XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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Phenotypes
Abnormality of chromosome stability

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ATM11q22.399.93%gene with protein product607585ATA, ATDC, ATC, ATDAbnormal spermatogenesis; Abnormality of bone marrow cell morphology; Abnormality of chromosome stability; Abnormality of the hair; Anorexia; Aplasia/Hypoplasia of the thymus; Ataxia; Autosomal recessive inheritance; B-cell lymphoma; Bronchiectasis; Cafe-au-lait spot; Cellular immunodeficiency; Choreoathetosis; Conjunctival telangiectasia; Decreased antibody level in blood; Decreased proportion of CD4-positive T cells; Defective B cell differentiation; Delayed puberty; Diabetes mellitus; Dysarthria; Dystonia; Elevated alpha-fetoprotein; Elevated hepatic transaminases; Fatigue; Female hypogonadism; Fever; Gait disturbance; Glucose intolerance; Hodgkin lymphoma; Hypopigmentation of hair; Hypoplasia of the thymus; IgA deficiency; Immunoglobulin IgG2 deficiency; Leukemia; Lymphadenopathy; Lymphopenia; Mucosal telangiectasiae; Myoclonus; Neoplasm; Non-Hodgkin lymphoma; Nystagmus; Polycystic ovaries; Premature graying of hair; Recurrent bronchitis; Recurrent respiratory infections; Reduced tendon reflexes; Seizures; Short stature; Sinusitis; Skeletal muscle atrophy; Spasticity; Splenomegaly; Strabismus; Telangiectasia of the skin; Tremor; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
BLM15q26.199.99%gene with protein product604610Abnormality of chromosome stability; Agenesis of maxillary lateral incisor; Autosomal recessive inheritance; Azoospermia; Bronchiectasis; Cafe-au-lait spot; Chromosome breakage; Chronic lung disease; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Decreased fertility in females; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Erythema; Facial telangiectasia in butterfly midface distribution; Hand polydactyly; High pitched voice; Hypertrichosis; Hypoplasia of the zygomatic bone; IgA deficiency; IgG deficiency; IgM deficiency; Intrauterine growth retardation; Leukemia; Lymphoma; Malar flattening; Microcephaly; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Recurrent respiratory infections; Short nose; Short stature; Sinusitis; Specific learning disability; Spotty hyperpigmentation; Spotty hypopigmentation; Squamous cell carcinoma; Syndactyly; Type II diabetes mellitusBone Marrow Failure Syndromes ; Primary Immunodeficiency
BRCA213q13.199.99%gene with protein product600185FANCD1, FACD, FANCDAbdominal pain; Abnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anorexia; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Bone marrow hypocellularity; Breast carcinoma; Chromosomal breakage induced by crosslinking agents; Chronic fatigue; Esophageal atresia; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Global developmental delay; Heterogeneous; Hypopigmented skin patches; Intellectual disability; Intestinal pseudo-obstruction; Irregular hyperpigmentation; Jaundice; Leukopenia; Lymphadenopathy; Microcephaly; Nephroblastoma; Ovarian neoplasm; Pancreatic adenocarcinoma; Poor appetite; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Somatic mutation; Thrombocytopenia; Tracheoesophageal fistula; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
BRIP117q23.2100%gene with protein product605882FANCJAbnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Breast carcinoma; Chromosomal breakage induced by crosslinking agents; Esophageal atresia; Global developmental delay; Heterogeneous; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Ovarian neoplasm; Postnatal growth retardation; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
CDCA72q31.1100%gene with protein product609937Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Autosomal recessive inheritance; Cellular immunodeficiency; Communicating hydrocephalus; Conductive hearing impairment; Cryptorchidism; Decreased antibody level in blood; Depressed nasal bridge; Flat face; Global developmental delay; Hypertelorism; Hypoplastic ischia; Hypospadias; Intellectual disability; Intrauterine growth retardation; Low-set ears; Lymphopenia; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Polydactyly; Recurrent respiratory infections; Short nose; Short stature; Strabismus
DNMT3B20q11.21100%gene with protein product602900Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Anteverted nares; Autosomal recessive inheritance; Bronchiectasis; Cellular immunodeficiency; Chronic bronchitis; Communicating hydrocephalus; Decrease in T cell count; Decreased antibody level in blood; Depressed nasal bridge; Diarrhea; Epicanthus; Failure to thrive; Flat face; Global developmental delay; Hypertelorism; Immunodeficiency; Intellectual disability; Low-set ears; Lymphopenia; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Micrognathia; Pneumonia; Protruding tongue; Recurrent respiratory infections; Short nose; Short stature; Sinusitis
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCA16q24.3100%gene with protein product607139FACA, FANCHAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCBXp22.299.65%gene with protein product300515Abnormal vertebral morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome stability; Abnormality of the optic nerve; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anal atresia; Anemia; Aplasia/Hypoplasia of the radius; Aqueductal stenosis; Atrioventricular canal defect; Enlarged kidney; Esophageal atresia; Global developmental delay; Growth delay; Hand polydactyly; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypopigmented skin patches; Hypoplasia of the radius; Intellectual disability; Intrauterine growth retardation; Irregular hyperpigmentation; Leukopenia; Low-set ears; Microcephaly; Microcornea; Phenotypic variability; Polyhydramnios; Proximal placement of thumb; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Scoliosis; Short humerus; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistula; Transposition of the great arteries; Urethral atresia; Ventriculomegaly; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
FANCBXp22.299.65%gene with protein product300515Abnormal vertebral morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome stability; Abnormality of the optic nerve; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anal atresia; Anemia; Aplasia/Hypoplasia of the radius; Aqueductal stenosis; Atrioventricular canal defect; Enlarged kidney; Esophageal atresia; Global developmental delay; Growth delay; Hand polydactyly; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypopigmented skin patches; Hypoplasia of the radius; Intellectual disability; Intrauterine growth retardation; Irregular hyperpigmentation; Leukopenia; Low-set ears; Microcephaly; Microcornea; Phenotypic variability; Polyhydramnios; Proximal placement of thumb; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Scoliosis; Short humerus; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistula; Transposition of the great arteries; Urethral atresia; Ventriculomegaly; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
FANCC9q22.32100%gene with protein product613899FACCAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCD23p25.399.99%gene with protein product613984FACD, FANCDAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCE6p21.31100%gene with protein product613976FACEAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCF11p14.3100%gene with protein product613897Abnormality of chromosome stability; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bone marrow hypocellularity; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCF11p14.3100%gene with protein product613897Abnormality of chromosome stability; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bone marrow hypocellularity; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCG9p13.3100%gene with protein product602956XRCC9Abnormality of chromosome stability; Abnormality of the thumb; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Multiple cafe-au-lait spots; Myelodysplasia; Neutropenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCG9p13.3100%gene with protein product602956XRCC9Abnormality of chromosome stability; Abnormality of the thumb; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Multiple cafe-au-lait spots; Myelodysplasia; Neutropenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCI15q26.1100%gene with protein product611360KIAA1794Abnormality of chromosome stability; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
FANCL2p16.1100%gene with protein product608111PHF9Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Cafe-au-lait spot; Chromosome breakage; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Phenotypic variability; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCL2p16.1100%gene with protein product608111PHF9Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Cafe-au-lait spot; Chromosome breakage; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Phenotypic variability; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCM14q21.299.42%gene with protein product609644KIAA1596Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Esophageal atresia; Global developmental delay; Growth delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCM14q21.299.42%gene with protein product609644KIAA1596Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Esophageal atresia; Global developmental delay; Growth delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
HELLS10q23.3397.82%gene with protein product603946Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Autosomal recessive inheritance; Cellular immunodeficiency; Communicating hydrocephalus; Congenital onset; Decreased antibody level in blood; Depressed nasal bridge; Epicanthus; Global developmental delay; Hypertelorism; Intellectual disability; Lymphopenia; Macrocephaly; Malabsorption; Micrognathia; Recurrent infections; Recurrent respiratory infections; Short stature
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
MAD2L21p36.22100%gene with protein product604094Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bone marrow hypocellularity; Elevated alpha-fetoprotein; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Neutropenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
NBN8q21.399.42%gene with protein product602667NBS, NBS1Abnormal hair quantity; Abnormality of chromosome stability; Abnormality of the fallopian tube; Acute lymphoblastic leukemia; Anal atresia; Anal stenosis; Aplastic anemia; Attention deficit hyperactivity disorder; Autoimmune hemolytic anemia; Autosomal recessive inheritance; B lymphocytopenia; Bone marrow hypocellularity; Breast carcinoma; Bronchiectasis; Cachexia; Cafe-au-lait spot; Choanal atresia; Chronic diarrhea; Cleft palate; Cleft upper lip; Convex nasal ridge; Decrease in T cell count; Deep philtrum; Depressed nasal bridge; Diarrhea; Dysgammaglobulinemia; Glioma; Hearing abnormality; Hydronephrosis; Hyperactivity; Intellectual disability; Intrauterine growth retardation; Long nose; Low anterior hairline; Lymphoma; Macrotia; Malar prominence; Mastoiditis; Medulloblastoma; Mental deterioration; Microcephaly; Micrognathia; Neurodegeneration; Otitis media; Ovarian neoplasm; Pollakisuria; Polygenic inheritance; Premature ovarian insufficiency; Primary peritoneal carcinoma; Progressive vitiligo; Prominent nasal bridge; Prominent nose; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent urinary tract infections; Retrognathia; Rhabdomyosarcoma; Short neck; Short stature; Sinusitis; Sloping forehead; Thrombocytopenia; Upslanted palpebral fissureAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
PALB216p12.299.95%gene with protein product610355FANCNAbdominal pain; Abnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anorexia; Aplasia/Hypoplasia of the radius; Aplastic anemia; Autosomal recessive inheritance; Back pain; Breast carcinoma; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Chronic fatigue; Epicanthus; Esophageal atresia; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Global developmental delay; Hypertelorism; Hypopigmented skin patches; Intellectual disability; Intestinal pseudo-obstruction; Irregular hyperpigmentation; Jaundice; Leukopenia; Lymphadenopathy; Medulloblastoma; Microcephaly; Ovarian neoplasm; Pancreatic adenocarcinoma; Poor appetite; Postnatal growth retardation; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short neck; Short palpebral fissure; Short stature; Short thumb; Thrombocytopenia; Tracheoesophageal fistula; Ventricular septal defect; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
PMVK1q21.3100%gene with protein product607622Abnormality of chromosome stability; Aplasia/Hypoplasia of the skin; Autosomal dominant inheritance; Cutaneous photosensitivity; Hyperkeratosis; Middle age onset; Neoplasm of the skin; Porokeratosis; Pruritus
POLA1Xp22.11-p21.98.96%gene with protein product312040POLA, NSXAbnormality of chromosome stability; Abnormality of metabolism/homeostasis; Amyloidosis; Broad eyebrow; Colitis; Corneal scarring; Cryptorchidism; Diarrhea; Failure to thrive in infancy; Generalized reticulate brown pigmentation; Global developmental delay; Hearing impairment; Hemiplegia; Hyperkeratosis; Hypohidrosis; Hypospadias; Inguinal hernia; Intellectual disability; Leukemia; Neoplasm; Opacification of the corneal stroma; Photophobia; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Seizures; Spasticity; Urethral stricture; Visual impairment; Visual loss; X-linked inheritance; X-linked recessive inheritance
RAD5115q15.199.9%gene with protein product179617RAD51A, RECA, FANCRAbnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anal atresia; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Bimanual synkinesia; Breast carcinoma; Global developmental delay; Growth delay; Hydrocephalus; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Ovarian neoplasm; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
RAD51C17q2299.79%gene with protein product602774FANCOAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of the fallopian tube; Absent thumb; Almond-shaped palpebral fissure; Anal atresia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Breast carcinoma; Cryptorchidism; Esophageal atresia; External genital hypoplasia; Global developmental delay; Hydronephrosis; Hypopigmented skin patches; Hypoplasia of the radius; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Ovarian neoplasm; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Rectal atresia; Renal cyst; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Stage 5 chronic kidney disease; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
RFWD316q23.1100%gene with protein product614151Abnormality of chromosome stability; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
SLX416p13.3100%gene with protein product613278BTBD12, FANCPAbnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Cafe-au-lait spot; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pancytopenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistula; Variable expressivityAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
TCN222q12.2100%gene with protein product613441Abnormality of chromosome stability; Abnormality of the mouth; Acute kidney injury; Ataxia; Autosomal recessive inheritance; Diarrhea; Failure to thrive; IgA deficiency; IgG deficiency; IgM deficiency; Intellectual disability; Irritability; Lethargy; Lymphopenia; Macrocytic anemia; Megaloblastic bone marrow; Methylmalonic aciduria; Muscle weakness; Neutropenia; Pancytopenia; Reticulocytopenia; Thrombocytopenia; Vomiting
UBE2T1q32.1100%gene with protein product610538FANCTAbnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bone marrow hypocellularity; Duplication of thumb phalanx; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pancytopenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; ThrombocytopeniaBone Marrow Failure Syndromes
XRCC27q36.1100%gene with protein product600375Abnormality of chromosome stability; Absent scaphoid; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Global developmental delay; Growth delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Patent ductus arteriosus; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
XRCC45q14.2100%gene with protein product194363Abnormality of chromosome stability; Abnormality of lipid metabolism; Acanthosis nigricans; Acute leukemia; Autosomal recessive inheritance; Biparietal narrowing; Bird-like facies; Brachycephaly; Broad nasal tip; Broad-based gait; Cerebellar vermis atrophy; Cognitive impairment; Convex nasal ridge; Cortical gyral simplification; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Delayed speech and language development; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysmetria; Ectopic kidney; Epicanthus; Erythema; Global developmental delay; Growth delay; Hepatic steatosis; High forehead; High pitched voice; Hypertriglyceridemia; Hypotelorism; Hypothyroidism; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Limb undergrowth; Long face; Long nose; Low anterior hairline; Lymphoma; Lymphopenia; Malar prominence; Microcephaly; Micrognathia; Micropenis; Misalignment of teeth; Nystagmus; Pancytopenia; Primary gonadal insufficiency; Prominent nasal bridge; Renal hypoplasia; Sensory neuropathy; Severe combined immunodeficiency; Severe short-limb dwarfism; Short chin; Short stature; Sloping forehead; Telecanthus; Thin vermilion border; Triangular face; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridgeObesity
ZBTB246q21100%gene with protein product614064ZNF450Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Anteverted nares; Autosomal recessive inheritance; Cellular immunodeficiency; Chronic bronchitis; Communicating hydrocephalus; Congenital onset; Decreased antibody level in blood; Depressed nasal bridge; Epicanthus; Global developmental delay; Growth delay; High palate; Hypertelorism; Immunodeficiency; Intellectual disability; Low-set ears; Lymphopenia; Macrocephaly; Malabsorption; Micrognathia; Motor delay; Pneumonia; Recurrent respiratory infections; Retrognathia; Round face; Short chin; Short nose; Short stature


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome