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| Prepair 1000+ v1.9 | AGL | Marta Cifuentes Ochoa commented on gene: AGL: Current Treatment high-fat, high-protein and low-carbohydrate diet with cornstarch supplementation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.9 | ATRX | Andrew Coventry reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16813605, 16955409, 15350606, 23681356; Phenotypes: Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.9 | IL2RG | Lauren Rogers reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.7 | AFF2 | Lauren Rogers reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35431806, 8334699, 21739600, 22773736; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.7 | ABCB7 | Andrew Coventry reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.7 | ABCB7 | Andrew Coventry reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.7 | AIFM1 | Karina Sandoval reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362274, 22019070, 26173962, 31523922, 31783324, 28299359, 25934856, 28842795, 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.4 | PIEZO1 |
Crystle Lee gene: PIEZO1 was added gene: PIEZO1 was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO1 were set to PMID: 26333996 Phenotypes for gene: PIEZO1 were set to Lymphatic malformation 6, MIM#616843 Review for gene: PIEZO1 was set to GREEN Added comment: Biallelic mutations in PIEZO1 reported in 10 patients from 6 families with generalized lymphatic dysplasia (GLD) This is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. Sources: Literature |
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| Prepair 1000+ v1.3 | UBE2T | Seb Lunke Added phenotypes Fanconi anemia, complementation group T, 616435 (3) for gene: UBE2T | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | TAT | Seb Lunke Added phenotypes Tyrosinemia, type II (MIM#276600) for gene: TAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | PEX7 | Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) for gene: PEX7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | MTR | Seb Lunke Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) for gene: MTR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | MMAB | Seb Lunke Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) for gene: MMAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | GSS | Seb Lunke Added phenotypes Glutathione synthetase deficiency, 266130 (3) for gene: GSS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | GNPAT | Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) for gene: GNPAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCL | Seb Lunke Added phenotypes Fanconi anemia, complementation group L, 614083 (3) for gene: FANCL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCI | Seb Lunke Added phenotypes Fanconi anemia, complementation group I, 609053 (3) for gene: FANCI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCG | Seb Lunke Added phenotypes Fanconi anemia, complementation group G, 614082 (3) for gene: FANCG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCF | Seb Lunke Added phenotypes Fanconi anemia, complementation group F, 603467 (3) for gene: FANCF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCE | Seb Lunke Added phenotypes Fanconi anemia, complementation group E, 600901 (3) for gene: FANCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCD2 | Seb Lunke Added phenotypes Fanconi anemia, complementation group D2, 227646 (3) for gene: FANCD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCC | Seb Lunke Added phenotypes Fanconi anemia, complementation group C, 227645 (3) for gene: FANCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCB | Seb Lunke Added phenotypes Fanconi anemia, complementation group B, 300514 (3) for gene: FANCB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FANCA | Seb Lunke Added phenotypes Fanconi anemia, complementation group A, 227650 (3) for gene: FANCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | ERCC4 | Seb Lunke Added phenotypes Fanconi anemia, complementation group Q, 615272 (3) for gene: ERCC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | CIITA | Seb Lunke Added phenotypes Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) for gene: CIITA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | AGPS | Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) for gene: AGPS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.0 | AIRE | Zornitza Stark changed review comment from: Highly variable phenotype in terms of severity and age of onset. Manifestations of the condition are generally treatable.; to: Highly variable phenotype in terms of severity and age of onset. Manifestations of the condition are generally treatable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.0 | NLGN4X | Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.200 | TAT | Zornitza Stark Marked gene: TAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.200 | TAT | Zornitza Stark Gene: tat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.200 | TAT | Zornitza Stark Classified gene: TAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.200 | TAT | Zornitza Stark Gene: tat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.197 | Zornitza Stark Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.195 | PCDH19 | Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | PCDH19 | Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 9 (MIM#300088); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | TAT | Zornitza Stark Tag for review was removed from gene: TAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | TAT | Zornitza Stark edited their review of gene: TAT: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | GJB1 | Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.185 | GJB1 | Zornitza Stark edited their review of gene: GJB1: Added comment: Childhood onset, motor disability can be severe.; Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F9 | Zornitza Stark reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | TAT | Zornitza Stark reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | RS1 | Zornitza Stark reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis (MIM#312700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | RPGR | Crystle Lee reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: None; Publications: 12657579, 30193314; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | MEFV | Zornitza Stark Mode of inheritance for gene: MEFV was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.149 | G6PD | Zornitza Stark Mode of inheritance for gene: G6PD was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | G6PD | Zornitza Stark reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemolytic anaemia, G6PD deficient (favism) (MIM#300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.136 | RPL10 | Zornitza Stark reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.133 | PGK1 | Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.131 | PDHA1 | Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.121 | GK | Zornitza Stark edited their review of gene: GK: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.119 | PCDH19 |
Crystle Lee gene: PCDH19 was added gene: PCDH19 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: PCDH19 was set to Other Publications for gene: PCDH19 were set to 18469813; 30287595 Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088) Review for gene: PCDH19 was set to AMBER Added comment: XLD. Affects heterozygous females, hemizygous males are mainly unaffected > 3 unrelated families with phenotype, > 3 de novo mutation carriers with phenotype Evidence of mosaicism and incomplete penetrance Sources: Literature |
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| Prepair 1000+ v0.116 | EFNB1 | Zornitza Stark reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.110 | CHM | Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.97 | BGN | Zornitza Stark reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.93 | TAT | Zornitza Stark Tag for review tag was added to gene: TAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | WNT10A |
Crystle Lee gene: WNT10A was added gene: WNT10A was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: WNT10A were set to 19559398; 30426266 Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia 257980 AR; Schopf-Schulz-Passarge syndrome 224750 AR; Tooth agenesis, selective, 4 150400 AR, AD Penetrance for gene: WNT10A were set to Incomplete Review for gene: WNT10A was set to RED Added comment: Well established gene disease association. Genotype-phenotype correlation is unclear. The same variant has been associated with all 3 phenotypes and both AR and AD inheritance. Variable expressivity, however milder phenotypes seem to be associated with AD (PMID: 19559398; 30426266) Sources: Literature |
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| Prepair 1000+ v0.85 | TAT |
Crystle Lee gene: TAT was added gene: TAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 16574453 Phenotypes for gene: TAT were set to Tyrosinemia, type II (MIM#276600) Review for gene: TAT was set to AMBER Added comment: Well established gene-disease association. Also known as Richner-Hanhart syndrome, the clinical hallmarks consist of a triad of painful palmoplantar keratoderma, keratitis with photophobia and variable mental impairment. RHS shows inter and intrafamilial phenotypic variability. Phenotype variability observed even among individuals sharing the same pathogenic variant. Sources: Literature |
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| Prepair 1000+ v0.85 | SLC26A4 |
Crystle Lee gene: SLC26A4 was added gene: SLC26A4 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A4 were set to 24599119 Phenotypes for gene: SLC26A4 were set to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791); Pendred syndrome (MIM#274600) Review for gene: SLC26A4 was set to AMBER Added comment: PDS and NSEVA are considered a disease spectrum and are distinguishable based on the presence of thyroid dysfunction in PDS (GeneReviews). In relation to severity of hearing, there's no correlation between missense vs PTCs. There was great variation in hearing loss severity with the same mutations. Phenotype cannot be predicted from the genotype (PMID: 24599119) Sources: Literature |
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| Prepair 1000+ v0.85 | RS1 |
Crystle Lee gene: RS1 was added gene: RS1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RS1 were set to 15932525; 23453514; 23847049 Phenotypes for gene: RS1 were set to Retinoschisis (MIM#312700) Review for gene: RS1 was set to AMBER Added comment: - This gene is known to be associated with X-linked recessive disease, however, some affected females have been reported (OMIM). - May not clinically manifest until middle life (OMIM) - Many PTCs and missense reported. All result in same XLRS phenotype (although expression can be variable). Also a knockout mouse with similar phenotype. - PTCs and missense involving cysteines tend to result in a more severe phenotype, whereas other missense can vary widely in severity (PMID: 23847049). Sources: Literature |
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| Prepair 1000+ v0.85 | PYGM |
Crystle Lee gene: PYGM was added gene: PYGM was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McArdle disease (MIM#232600) Review for gene: PYGM was set to AMBER Added comment: Gene-disease association for bi-allelic variants is well established. McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria Clinical heterogeneity exists; about 10% of all affected individuals have mild manifestations (e.g., fatigue or poor stamina without contractures) and remain virtually asymptomatic during daily activities of living(Gene Reviews) Sources: Literature |
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| Prepair 1000+ v0.85 | MEFV |
Crystle Lee gene: MEFV was added gene: MEFV was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MEFV were set to Familial Mediterranean fever, AR (MIM#249100) Penetrance for gene: MEFV were set to Incomplete Review for gene: MEFV was set to AMBER Added comment: Well established association. Predominantly bi-allelic, though a limited range of heterozygous variants have been associated with disease. Sources: Literature |
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| Prepair 1000+ v0.61 | HYAL1 |
Crystle Lee gene: HYAL1 was added gene: HYAL1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 10339581; 18344557; 21559944 Phenotypes for gene: HYAL1 were set to Mucopolysaccharidosis type IX (MIM#601492) Review for gene: HYAL1 was set to RED Added comment: Two families reported: in one, multiple soft tissue masses were the predominant clinical manifestation, and in the second, juvenile arthritis. Mouse model. >15 pLoF variants reported as pathogenic in ClinVar. All submitted by a single lab and evidence suggests that the variant has not been previously reported. Insufficient gene disease association. Not suitable for inclusion in a carrier screening panel Sources: Literature |
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| Prepair 1000+ v0.61 | GJB2 |
Crystle Lee gene: GJB2 was added gene: GJB2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: GJB2 were set to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500 Review for gene: GJB2 was set to AMBER Added comment: Well established gene disease association. AR deafness MIM#220290 is associated with biallelic variants or digenic dominant with large deletion in GJB6 Sources: Literature |
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| Prepair 1000+ v0.61 | GJB1 |
Crystle Lee gene: GJB1 was added gene: GJB1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800) Review for gene: GJB1 was set to AMBER Added comment: CMTX has both demyelinating and axonal features. Well established gene-disease association, over 100 families reported. Variable phenotype with incomplete penetrance (OMIM) PMID 31842800: Three unrelated males with GJB1 variants and recurrent episodes of reversible posterior leukoencephalopathy reported. Sources: Literature |
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| Prepair 1000+ v0.61 | G6PD |
Crystle Lee gene: G6PD was added gene: G6PD was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism) (MIM#300908) Review for gene: G6PD was set to AMBER Added comment: Well established gene disease association. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening Note: OMIM states this is XLD, however it is males that a repeatedly reported affected and just carrier females; females are affected when HOMOZYGOUS, meaning this is primarily an XLR condition Sources: Literature |
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| Prepair 1000+ v0.61 | F11 |
Crystle Lee gene: F11 was added gene: F11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: F11 were set to 18446632; 15026311; 27723456 Phenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416) Review for gene: F11 was set to AMBER Added comment: Recessive cases are more severe than heterozygous carriers, who may be asymptomatic despite having FXI deficiency (PMID:18446632). Dominant negative missense tend to have dominant inheritance patterns (PMID:15026311), while PTCs are generally recessive, though symptomatic carriers have been reported (OMIM). PMID: 27723456 - "Bleeding due to FXI deficiency is variable and does not correlate with the plasma FXI level or FXI coagulant activity1" Sources: Literature |
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| Prepair 1000+ v0.61 | CYP19A1 |
Crystle Lee gene: CYP19A1 was added gene: CYP19A1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP19A1 were set to 29553041; 17164303; 25264451 Phenotypes for gene: CYP19A1 were set to Aromatase deficiency (MIM#613546) Review for gene: CYP19A1 was set to AMBER Added comment: Aromatase deficiency is a rare disease characterized by a decrease in estrogen synthesis. Clinical characteristics of patients with aromatase deficiency vary depending on gender, age and enzymatic activity CYP19A1 loss-of-function because of biallelic mutations leads to aromatase deficiency, whereas CYP19A1 overexpression because of genomic rearrangements results in aromatase excess syndrome (https://doi.org/10.1016/j.coemr.2020.03.002) Sources: Literature |
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| Prepair 1000+ v0.61 | LMNA | Crystle Lee reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18551513, 15148145, 17377071; Phenotypes: Emery-Dreifuss muscular dystrophy 3, autosomal recessive (MIM#616516), Mandibuloacral dysplasia (MIM#248370); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | GLA | Crystle Lee reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29649853, 20301469; Phenotypes: Fabry disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.58 | BGN | Crystle Lee reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27632686, 17502576, 27236923; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.58 | PGK1 | Crystle Lee reviewed gene: PGK1: Rating: ; Mode of pathogenicity: None; Publications: 16567715, 30887539, 22348148, 28580215; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | IKBKG | Zornitza Stark reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | PLG |
Crystle Lee changed review comment from: 2 AR conditions associated with PLG; Type I plasminogen deficiency and type II plasminogen deficiency, also known as 'dysplasminogenemia'. Patients with type II deficiency are usually asymptomatic (OMIM). The most common clinical manifestation is ligneous conjunctivitis. Other neurological manifestations such as hydrocephalus and Dandy Walker malformation can also be present in some patients PMID: 21174000: Phenotype shows inter- and intra- familial variability. Residual PLG activity does not always correlate with clinical severity AR condition can be associated with severe, early onset presentation; to: 2 AR conditions associated with PLG; Type I plasminogen deficiency and type II plasminogen deficiency, also known as 'dysplasminogenemia'. Patients with type II deficiency are usually asymptomatic (OMIM). The most common clinical manifestation is ligneous conjunctivitis. Other neurological manifestations such as hydrocephalus and Dandy Walker malformation can also be present in some patients PMID: 21174000: Phenotype shows inter- and intra- familial variability. Residual PLG activity does not always correlate with clinical severity AR condition can be associated with severe, early onset presentation |
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| Prepair 1000+ v0.50 | MPZ | Crystle Lee reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 30239779, 8816708, 12845552, 16488608, 26310628, 8630052; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate D (MIM#607791), Charcot-Marie-Tooth disease, type 1B (MIM#118200), Charcot-Marie-Tooth disease, type 2I (MIM#607677), Charcot-Marie-Tooth disease, type 2J (MIM#607736), Dejerine-Sottas disease (MIM#145900), Hypomyelinating neuropathy, congenital, 2 (MIM#618184), Roussy-Levy syndrome (MIM#180800); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | UBA1 | Crystle Lee reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 23518311, 26028276; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile (MIM#301830); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | CHM | Crystle Lee reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 33110609, 27820636; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | PROC | Crystle Lee reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | PROC |
Crystle Lee changed review comment from: Gene is associated AD and AR thrombophilia 3 due to protein C deficiency AR form of condition is associated with variable severity and occasional late-onset of symptoms with homozygosity Heterozygous 'carriers' of pathogenic variants in the PROC gene are said to have mild protein C deficiency which is often asymptomatic, but may involve recurrent venous thrombosis. Difficult to define penetrance as represents risk factor for thrombophilia. Challenge in interpretation and reporting in a carrier screening context; to: Gene is associated AD and AR thrombophilia 3 due to protein C deficiency AR form of condition is associated with variable severity and occasional late-onset of symptoms with homozygosity Heterozygous 'carriers' of pathogenic variants in the PROC gene are said to have mild protein C deficiency which is often asymptomatic, but may involve recurrent venous thrombosis. Difficult to define penetrance as represents risk factor for thrombophilia. Challenge in interpretation and reporting in a carrier screening context |
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| Prepair 1000+ v0.50 | PROC | Crystle Lee reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | IKBKG | Crystle Lee reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.49 | RYR1 | Crystle Lee reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Central core disease (MIM#117000), Minicore myopathy with external ophthalmoplegia (MIM#255320), Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.49 | F5 | Crystle Lee reviewed gene: F5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.49 | F9 | Crystle Lee reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.49 | PDHA1 | Crystle Lee reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28584645, 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.40 | TTN | Crystle Lee reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1G (MIM#604145), Cardiomyopathy, familial hypertrophic, 9 (MIM#613765), Muscular dystrophy, limb-girdle, autosomal recessive 10 (MIM#608807), Myopathy, myofibrillar, 9, with early respiratory failure (MIM#603689), Salih myopathy (MIM#611705), Tibial muscular dystrophy, tardive (MIM#600334); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.40 | VWF | Crystle Lee reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1 (MIM#193400), von Willebrand disease, type 3 (MIM#277480), von Willebrand disease, types 2A, 2B, 2M, and 2N (MIM#613554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.40 | SHOX | Crystle Lee reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Langer mesomelic dysplasia (MIM#249700), Leri-Weill dyschondrosteosis (MIM#127300), Short stature, idiopathic familial (MIM#300582); Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.40 | EFNB1 | Crystle Lee reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.40 | TNFRSF13B | Crystle Lee reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 31681265; Phenotypes: Immunodeficiency, common variable, 2 (MIM#240500); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.40 | RPL10 | Crystle Lee reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 25316788, 26290468, 25846674, 29066376; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.40 | F8 | Crystle Lee reviewed gene: F8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia A (MIM#306700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.32 | TSPAN7 | Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | NLGN4X | Crystle Lee reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Intellectual developmental disorder, X-linked (MIM#300495); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | LDHB | Crystle Lee reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase-B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | TBX22 |
Zornitza Stark gene: TBX22 was added gene: TBX22 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400 |
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| Prepair 1000+ v0.0 | PUS7 |
Zornitza Stark gene: PUS7 was added gene: PUS7 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862; 31583274; 30778726 Phenotypes for gene: PUS7 were set to OMIM #618342; Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
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| Prepair 1000+ v0.0 | OPN1LW |
Zornitza Stark gene: OPN1LW was added gene: OPN1LW was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OPN1LW were set to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900 |
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| Prepair 1000+ v0.0 | KRT8 |
Zornitza Stark gene: KRT8 was added gene: KRT8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRT8 were set to 12724528; 11372009; 15235035 Phenotypes for gene: KRT8 were set to CIRRHOSIS, FAMILIAL, MIM #215600 |
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| Prepair 1000+ v0.0 | BCAP31 |
Zornitza Stark gene: BCAP31 was added gene: BCAP31 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCAP31 were set to 31330203; 24011989; 33603160 Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 |
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| Prepair 1000+ v0.0 | AFF2 |
Zornitza Stark gene: AFF2 was added gene: AFF2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548 |
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| Prepair 1000+ v0.0 | RPL10 |
Zornitza Stark gene: RPL10 was added gene: RPL10 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 (MIM#300998) |
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| Prepair 1000+ v0.0 | POLA1 |
Zornitza Stark gene: POLA1 was added gene: POLA1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030 |
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| Prepair 1000+ v0.0 | ZNF711 |
Zornitza Stark gene: ZNF711 was added gene: ZNF711 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3) |
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| Prepair 1000+ v0.0 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) |
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| Prepair 1000+ v0.0 | ZDHHC9 |
Zornitza Stark gene: ZDHHC9 was added gene: ZDHHC9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3) |
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| Prepair 1000+ v0.0 | ZC4H2 |
Zornitza Stark gene: ZC4H2 was added gene: ZC4H2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3) |
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| Prepair 1000+ v0.0 | XRCC4 |
Zornitza Stark gene: XRCC4 was added gene: XRCC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive |
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| Prepair 1000+ v0.0 | XIAP |
Zornitza Stark gene: XIAP was added gene: XIAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3) |
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| Prepair 1000+ v0.0 | WAS |
Zornitza Stark gene: WAS was added gene: WAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3) |
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| Prepair 1000+ v0.0 | VMA21 |
Zornitza Stark gene: VMA21 was added gene: VMA21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive |
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| Prepair 1000+ v0.0 | USP9X |
Zornitza Stark gene: USP9X was added gene: USP9X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3) |
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| Prepair 1000+ v0.0 | UPF3B |
Zornitza Stark gene: UPF3B was added gene: UPF3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3) |
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| Prepair 1000+ v0.0 | UBE2T |
Zornitza Stark gene: UBE2T was added gene: UBE2T was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3) |
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| Prepair 1000+ v0.0 | UBE2A |
Zornitza Stark gene: UBE2A was added gene: UBE2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) |
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| Prepair 1000+ v0.0 | UBA1 |
Zornitza Stark gene: UBA1 was added gene: UBA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3) |
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| Prepair 1000+ v0.0 | TSPAN7 |
Zornitza Stark gene: TSPAN7 was added gene: TSPAN7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSPAN7 were set to Mental retardation, X-linked 58, 300210 (3) |
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| Prepair 1000+ v0.0 | TRMT10A |
Zornitza Stark gene: TRMT10A was added gene: TRMT10A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism, 616033 (3) |
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| Prepair 1000+ v0.0 | TIMM8A |
Zornitza Stark gene: TIMM8A was added gene: TIMM8A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (3) |
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| Prepair 1000+ v0.0 | THOC2 |
Zornitza Stark gene: THOC2 was added gene: THOC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive |
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| Prepair 1000+ v0.0 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3) |
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| Prepair 1000+ v0.0 | SYP |
Zornitza Stark gene: SYP was added gene: SYP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYP were set to Mental retardation, X-linked 96, 300802 (3) |
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| Prepair 1000+ v0.0 | SYN1 |
Zornitza Stark gene: SYN1 was added gene: SYN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) |
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| Prepair 1000+ v0.0 | STAT1 |
Zornitza Stark gene: STAT1 was added gene: STAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: STAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3) |
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| Prepair 1000+ v0.0 | SSR4 |
Zornitza Stark gene: SSR4 was added gene: SSR4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive |
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| Prepair 1000+ v0.0 | SMS |
Zornitza Stark gene: SMS was added gene: SMS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, 309583 (3) |
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| Prepair 1000+ v0.0 | SLC9A6 |
Zornitza Stark gene: SLC9A6 was added gene: SLC9A6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type |
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| Prepair 1000+ v0.0 | SLC6A8 |
Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3) |
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| Prepair 1000+ v0.0 | SLC16A2 |
Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome |
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| Prepair 1000+ v0.0 | SH2D1A |
Zornitza Stark gene: SH2D1A was added gene: SH2D1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3) |
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| Prepair 1000+ v0.0 | RPS6KA3 |
Zornitza Stark gene: RPS6KA3 was added gene: RPS6KA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome |
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| Prepair 1000+ v0.0 | RPGR |
Zornitza Stark gene: RPGR was added gene: RPGR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3) |
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| Prepair 1000+ v0.0 | RP2 |
Zornitza Stark gene: RP2 was added gene: RP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3) |
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| Prepair 1000+ v0.0 | RLIM |
Zornitza Stark gene: RLIM was added gene: RLIM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive |
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| Prepair 1000+ v0.0 | RFXAP |
Zornitza Stark gene: RFXAP was added gene: RFXAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) |
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| Prepair 1000+ v0.0 | RFXANK |
Zornitza Stark gene: RFXANK was added gene: RFXANK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3) |
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| Prepair 1000+ v0.0 | RBM10 |
Zornitza Stark gene: RBM10 was added gene: RBM10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3) |
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| Prepair 1000+ v0.0 | RAB39B |
Zornitza Stark gene: RAB39B was added gene: RAB39B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3) |
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| Prepair 1000+ v0.0 | PRPS1 |
Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3) |
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| Prepair 1000+ v0.0 | PQBP1 |
Zornitza Stark gene: PQBP1 was added gene: PQBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3) |
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| Prepair 1000+ v0.0 | POC1A |
Zornitza Stark gene: POC1A was added gene: POC1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3) |
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| Prepair 1000+ v0.0 | PLP1 |
Zornitza Stark gene: PLP1 was added gene: PLP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3) |
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| Prepair 1000+ v0.0 | PIH1D3 |
Zornitza Stark gene: PIH1D3 was added gene: PIH1D3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive |
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| Prepair 1000+ v0.0 | PIGA |
Zornitza Stark gene: PIGA was added gene: PIGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) |
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| Prepair 1000+ v0.0 | PHF8 |
Zornitza Stark gene: PHF8 was added gene: PHF8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3) |
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| Prepair 1000+ v0.0 | PHF6 |
Zornitza Stark gene: PHF6 was added gene: PHF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3) |
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| Prepair 1000+ v0.0 | PGK1 |
Zornitza Stark gene: PGK1 was added gene: PGK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3) |
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| Prepair 1000+ v0.0 | PEX7 |
Zornitza Stark gene: PEX7 was added gene: PEX7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) |
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| Prepair 1000+ v0.0 | PDHA1 |
Zornitza Stark gene: PDHA1 was added gene: PDHA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency |
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| Prepair 1000+ v0.0 | PAK3 |
Zornitza Stark gene: PAK3 was added gene: PAK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3) |
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| Prepair 1000+ v0.0 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3) |
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| Prepair 1000+ v0.0 | OPHN1 |
Zornitza Stark gene: OPHN1 was added gene: OPHN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) |
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| Prepair 1000+ v0.0 | OFD1 |
Zornitza Stark gene: OFD1 was added gene: OFD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3) |
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| Prepair 1000+ v0.0 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3) |
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| Prepair 1000+ v0.0 | NYX |
Zornitza Stark gene: NYX was added gene: NYX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500 |
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| Prepair 1000+ v0.0 | NSDHL |
Zornitza Stark gene: NSDHL was added gene: NSDHL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NSDHL were set to CK syndrome, 300831 (3) |
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| Prepair 1000+ v0.0 | NR0B1 |
Zornitza Stark gene: NR0B1 was added gene: NR0B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3) |
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| Prepair 1000+ v0.0 | NLGN4X |
Zornitza Stark gene: NLGN4X was added gene: NLGN4X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3) |
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| Prepair 1000+ v0.0 | NHS |
Zornitza Stark gene: NHS was added gene: NHS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3) |
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| Prepair 1000+ v0.0 | NEXMIF |
Zornitza Stark gene: NEXMIF was added gene: NEXMIF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, MIM #300912 |
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| Prepair 1000+ v0.0 | NDUFA1 |
Zornitza Stark gene: NDUFA1 was added gene: NDUFA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Prepair 1000+ v0.0 | NDP |
Zornitza Stark gene: NDP was added gene: NDP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDP were set to Norrie disease, 310600 (3) |
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| Prepair 1000+ v0.0 | NBAS |
Zornitza Stark gene: NBAS was added gene: NBAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3) |
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| Prepair 1000+ v0.0 | NAA10 |
Zornitza Stark gene: NAA10 was added gene: NAA10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (3) |
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| Prepair 1000+ v0.0 | MTR |
Zornitza Stark gene: MTR was added gene: MTR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) |
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| Prepair 1000+ v0.0 | MTM1 |
Zornitza Stark gene: MTM1 was added gene: MTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3) |
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| Prepair 1000+ v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) |
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| Prepair 1000+ v0.0 | MID1 |
Zornitza Stark gene: MID1 was added gene: MID1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3) |
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| Prepair 1000+ v0.0 | MED12 |
Zornitza Stark gene: MED12 was added gene: MED12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3) |
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| Prepair 1000+ v0.0 | MECP2 |
Zornitza Stark gene: MECP2 was added gene: MECP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3) |
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| Prepair 1000+ v0.0 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome, 308205 (3) |
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| Prepair 1000+ v0.0 | MAOA |
Zornitza Stark gene: MAOA was added gene: MAOA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3) |
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| Prepair 1000+ v0.0 | LDHB |
Zornitza Stark gene: LDHB was added gene: LDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHB were set to 6383647 Phenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, MIM# 614128 |
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| Prepair 1000+ v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3) |
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| Prepair 1000+ v0.0 | KDM5C |
Zornitza Stark gene: KDM5C was added gene: KDM5C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) |
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| Prepair 1000+ v0.0 | IQSEC2 |
Zornitza Stark gene: IQSEC2 was added gene: IQSEC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3) |
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| Prepair 1000+ v0.0 | IL2RG |
Zornitza Stark gene: IL2RG was added gene: IL2RG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3) |
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| Prepair 1000+ v0.0 | IL1RAPL1 |
Zornitza Stark gene: IL1RAPL1 was added gene: IL1RAPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3) |
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| Prepair 1000+ v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3) |
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| Prepair 1000+ v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3) |
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| Prepair 1000+ v0.0 | HUWE1 |
Zornitza Stark gene: HUWE1 was added gene: HUWE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3) |
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| Prepair 1000+ v0.0 | HSD17B10 |
Zornitza Stark gene: HSD17B10 was added gene: HSD17B10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease |
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| Prepair 1000+ v0.0 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3) |
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| Prepair 1000+ v0.0 | HCFC1 |
Zornitza Stark gene: HCFC1 was added gene: HCFC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) |
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| Prepair 1000+ v0.0 | GSS |
Zornitza Stark gene: GSS was added gene: GSS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3) |
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| Prepair 1000+ v0.0 | GPR179 |
Zornitza Stark gene: GPR179 was added gene: GPR179 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3) |
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| Prepair 1000+ v0.0 | GPR143 |
Zornitza Stark gene: GPR143 was added gene: GPR143 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3) |
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| Prepair 1000+ v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) |
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| Prepair 1000+ v0.0 | GNPAT |
Zornitza Stark gene: GNPAT was added gene: GNPAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) |
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| Prepair 1000+ v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease, 301500 (3) |
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| Prepair 1000+ v0.0 | GK |
Zornitza Stark gene: GK was added gene: GK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3) |
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| Prepair 1000+ v0.0 | GDI1 |
Zornitza Stark gene: GDI1 was added gene: GDI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to Mental retardation, X-linked 41, 300849 (3) |
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| Prepair 1000+ v0.0 | FTSJ1 |
Zornitza Stark gene: FTSJ1 was added gene: FTSJ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3) |
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| Prepair 1000+ v0.0 | FOXP3 |
Zornitza Stark gene: FOXP3 was added gene: FOXP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3) |
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| Prepair 1000+ v0.0 | FMR1 |
Zornitza Stark gene: FMR1 was added gene: FMR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FMR1 were set to Fragile X syndrome |
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| Prepair 1000+ v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3) |
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| Prepair 1000+ v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) |
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| Prepair 1000+ v0.0 | FANCL |
Zornitza Stark gene: FANCL was added gene: FANCL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3) |
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| Prepair 1000+ v0.0 | FANCI |
Zornitza Stark gene: FANCI was added gene: FANCI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3) |
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| Prepair 1000+ v0.0 | FANCG |
Zornitza Stark gene: FANCG was added gene: FANCG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3) |
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| Prepair 1000+ v0.0 | FANCF |
Zornitza Stark gene: FANCF was added gene: FANCF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3) |
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| Prepair 1000+ v0.0 | FANCE |
Zornitza Stark gene: FANCE was added gene: FANCE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3) |
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| Prepair 1000+ v0.0 | FANCD2 |
Zornitza Stark gene: FANCD2 was added gene: FANCD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3) |
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| Prepair 1000+ v0.0 | FANCC |
Zornitza Stark gene: FANCC was added gene: FANCC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3) |
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| Prepair 1000+ v0.0 | FANCB |
Zornitza Stark gene: FANCB was added gene: FANCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3) |
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| Prepair 1000+ v0.0 | FANCA |
Zornitza Stark gene: FANCA was added gene: FANCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3) |
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| Prepair 1000+ v0.0 | F9 |
Zornitza Stark gene: F9 was added gene: F9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F9 were set to Hemophilia B, 306900 (3) |
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| Prepair 1000+ v0.0 | F8 |
Zornitza Stark gene: F8 was added gene: F8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F8 were set to Hemophilia A, 306700 (3) |
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| Prepair 1000+ v0.0 | ERCC4 |
Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3) |
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| Prepair 1000+ v0.0 | EMD |
Zornitza Stark gene: EMD was added gene: EMD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) |
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| Prepair 1000+ v0.0 | EIF2S3 |
Zornitza Stark gene: EIF2S3 was added gene: EIF2S3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive |
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| Prepair 1000+ v0.0 | EFNB1 |
Zornitza Stark gene: EFNB1 was added gene: EFNB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3) |
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| Prepair 1000+ v0.0 | EDA |
Zornitza Stark gene: EDA was added gene: EDA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) |
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| Prepair 1000+ v0.0 | DPH1 |
Zornitza Stark gene: DPH1 was added gene: DPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive |
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| Prepair 1000+ v0.0 | DONSON |
Zornitza Stark gene: DONSON was added gene: DONSON was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive |
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| Prepair 1000+ v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3) |
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| Prepair 1000+ v0.0 | DLG3 |
Zornitza Stark gene: DLG3 was added gene: DLG3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3) |
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| Prepair 1000+ v0.0 | DKC1 |
Zornitza Stark gene: DKC1 was added gene: DKC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3) |
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| Prepair 1000+ v0.0 | DCX |
Zornitza Stark gene: DCX was added gene: DCX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3) |
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| Prepair 1000+ v0.0 | DARS2 |
Zornitza Stark gene: DARS2 was added gene: DARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3) |
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| Prepair 1000+ v0.0 | CYBB |
Zornitza Stark gene: CYBB was added gene: CYBB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3) |
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| Prepair 1000+ v0.0 | CUL4B |
Zornitza Stark gene: CUL4B was added gene: CUL4B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) |
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| Prepair 1000+ v0.0 | COL4A5 |
Zornitza Stark gene: COL4A5 was added gene: COL4A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked |
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| Prepair 1000+ v0.0 | CLCN5 |
Zornitza Stark gene: CLCN5 was added gene: CLCN5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN5 were set to Dent disease, 300009 (3) |
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| Prepair 1000+ v0.0 | CLCN4 |
Zornitza Stark gene: CLCN4 was added gene: CLCN4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CLCN4 were set to 27550844 Phenotypes for gene: CLCN4 were set to Raynaud-Claes syndrome, MIM #300114 |
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| Prepair 1000+ v0.0 | CIITA |
Zornitza Stark gene: CIITA was added gene: CIITA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) |
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| Prepair 1000+ v0.0 | CHM |
Zornitza Stark gene: CHM was added gene: CHM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHM were set to Choroideremia |
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| Prepair 1000+ v0.0 | CFP |
Zornitza Stark gene: CFP was added gene: CFP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, 312060 (3) |
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| Prepair 1000+ v0.0 | CD40LG |
Zornitza Stark gene: CD40LG was added gene: CD40LG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) |
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| Prepair 1000+ v0.0 | CASK |
Zornitza Stark gene: CASK was added gene: CASK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus |
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| Prepair 1000+ v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3) |
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| Prepair 1000+ v0.0 | BRWD3 |
Zornitza Stark gene: BRWD3 was added gene: BRWD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3) |
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| Prepair 1000+ v0.0 | BGN |
Zornitza Stark gene: BGN was added gene: BGN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked |
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| Prepair 1000+ v0.0 | B3GAT3 |
Zornitza Stark gene: B3GAT3 was added gene: B3GAT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3) |
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| Prepair 1000+ v0.0 | ATRX |
Zornitza Stark gene: ATRX was added gene: ATRX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) |
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| Prepair 1000+ v0.0 | ATP7A |
Zornitza Stark gene: ATP7A was added gene: ATP7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Menkes disease, 309400 (3) |
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| Prepair 1000+ v0.0 | ATP6AP1 |
Zornitza Stark gene: ATP6AP1 was added gene: ATP6AP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive |
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| Prepair 1000+ v0.0 | ARX |
Zornitza Stark gene: ARX was added gene: ARX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3) |
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| Prepair 1000+ v0.0 | ARHGEF9 |
Zornitza Stark gene: ARHGEF9 was added gene: ARHGEF9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARHGEF9 were set to Epileptic encephalopathy, early infantile, 8, 300607 (3) |
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| Prepair 1000+ v0.0 | AP1S2 |
Zornitza Stark gene: AP1S2 was added gene: AP1S2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3) |
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| Prepair 1000+ v0.0 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3) |
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| Prepair 1000+ v0.0 | AGPS |
Zornitza Stark gene: AGPS was added gene: AGPS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) |
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| Prepair 1000+ v0.0 | ABCD1 |
Zornitza Stark gene: ABCD1 was added gene: ABCD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3) |
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| Prepair 1000+ v0.0 | ABCB7 |
Zornitza Stark gene: ABCB7 was added gene: ABCB7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310 (3) |
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