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| Prepair 1000+ v1.7 | ABCB7 |
Andrew Coventry changed review comment from: HGNC approved symbol/name: ABCB7 Reported cases of ataxia are typically childhood onset and progressive, anaemia reported to be mostly mild.; to: HGNC approved symbol/name: ABCB7 Reported cases of ataxia are typically childhood onset and progressive, anaemia reported to be mostly mild. |
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| Prepair 1000+ v1.5 | ADPRHL2 |
Zornitza Stark changed review comment from: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy. New HGNC approved name is ADPRS.; to: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy. New HGNC approved name is ADPRS. To be upgraded to GREEN in next version of panel. |
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| 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 | POR | Seb Lunke Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) for gene: POR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | COL4A5 | Seb Lunke Added phenotypes Alport syndrome 1, X-linked for gene: COL4A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | COL4A4 | Seb Lunke Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | COL4A3 | Seb Lunke Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.168 | HERC2 |
Crystle Lee edited their review of gene: HERC2: Added comment: Mapping issues reviewed: Majority of exons in this gene are well covered and there is no evidence of any recurrent variants. Insufficient mapping issues to exclude gene. Note: most SNVs reported as VUS. Lots of multigenic CNVs reported.; Changed rating: GREEN |
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| Prepair 1000+ v0.164 | RYR1 | Zornitza Stark commented on gene: RYR1: Hard to predict outcome in a screening context. However, multiple reports of severe perinatal outcomes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PRKRA |
Zornitza Stark changed review comment from: Founder variant but multiple other families reported. Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection.; to: Founder variant but multiple other families reported. Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection. Risk of false negatives is low. |
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| Prepair 1000+ v0.126 | MPZ | Zornitza Stark changed review comment from: More than 3 families reported with biallelic variants.; to: More than 3 families reported with biallelic variants. Childhood/congenital onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | TECPR2 |
Crystle Lee gene: TECPR2 was added gene: TECPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 23176824; 26542466; 35130874 Phenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 Review for gene: TECPR2 was set to GREEN Added comment: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent 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 | MCCC2 |
Crystle Lee gene: MCCC2 was added gene: MCCC2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210) Review for gene: MCCC2 was set to RED Added comment: Variants in this gene cause a biochemical defect. Relationship to clinical features is less certain. Variants in this gene have been reported in multiple individuals with ID/regression/neurological phenotypes. However, ascertainment through NBS programs indicates most individuals remain asymptomatic and therefore caution should be applied in interpreting the clinical significance of variants in this gene (though they undoubtedly cause a biochemical phenotype). 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 | GRHPR |
Crystle Lee gene: GRHPR was added gene: GRHPR was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921 Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II (MIM#260000) Review for gene: GRHPR was set to AMBER Added comment: Well established gene-disease association, more than 10 families reported. Onset usually in infancy or early childhood, variable severity and some patients may be asymptomatic (OMIM; Gene Reviews) Sources: Literature |
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| Prepair 1000+ v0.61 | GP9 |
Crystle Lee gene: GP9 was added gene: GP9 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GP9 were set to 8049428; 33553065; 32030720; 31484196 Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C (MIM#231200) Review for gene: GP9 was set to AMBER Added comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5. At least 3 unrelated families reported, animal model. 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 | CERKL |
Crystle Lee changed review comment from: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease. Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype. Sources: Literature; to: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease. Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype. Sources: Literature |
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| Prepair 1000+ v0.61 | CERKL |
Crystle Lee gene: CERKL was added gene: CERKL was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERKL were set to 33322828 Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26 (MIM#608380) Review for gene: CERKL was set to RED Added comment: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease. Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype. Sources: Literature |
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| Prepair 1000+ v0.61 | AIRE |
Crystle Lee gene: AIRE was added gene: AIRE was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIRE were set to 35521792; 28323927 Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300) Review for gene: AIRE was set to AMBER Added comment: Well established gene disease association. Onset in childhood however phenotype can vary even between siblings with the same genotype. Therefore, it may be difficult (?impossible) to predict the severity/age of onset from the genotype Most reported individuals have bi-allelic variants. AD inheritance has been reported in a single family (OMIM) p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM) Sources: Literature |
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| 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+ v0.31 | ALG2 |
Crystle Lee commented on gene: ALG2: One additional variant reported in association with CDG on top of the previously reviewed patients reported with CDG/congenital myasthenia PMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276) |
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| Prepair 1000+ v0.0 | SEC23A |
Crystle Lee changed review comment from: Amber in Mendeliome. Insufficient evidence for inclusion. There is only one family reported with convincing evidence for gene-disease association, and we have downgraded this gene on other panels.; to: Amber in Mendeliome. Insufficient evidence for inclusion. There is only one family reported with convincing evidence for gene-disease association, and we have downgraded this gene on other panels. |
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| Prepair 1000+ v0.0 | PIBF1 |
Crystle Lee gene: PIBF1 was added gene: PIBF1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797; 33004012 Phenotypes for gene: PIBF1 were set to Joubert syndrome 33 (MIM#617767) Review for gene: PIBF1 was set to AMBER Added comment: Green gene to be considered for inclusion Three unrelated families plus three Hutterite families reported with bi-allelic variants in this gene. Sources: Literature |
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| Prepair 1000+ v0.0 | UROS |
Zornitza Stark gene: UROS was added gene: UROS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3) |
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| Prepair 1000+ v0.0 | SLC16A1 |
Zornitza Stark gene: SLC16A1 was added gene: SLC16A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC16A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, 616095 (3) |
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| Prepair 1000+ v0.0 | POR |
Zornitza Stark gene: POR was added gene: POR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) |
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| Prepair 1000+ v0.0 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome, 259770 (3) |
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| Prepair 1000+ v0.0 | LAMA1 |
Zornitza Stark gene: LAMA1 was added gene: LAMA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, 615960 (3) |
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| Prepair 1000+ v0.0 | FOLR1 |
Zornitza Stark gene: FOLR1 was added gene: FOLR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068 (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 | COL4A4 |
Zornitza Stark gene: COL4A4 was added gene: COL4A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3) |
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| Prepair 1000+ v0.0 | COL4A3 |
Zornitza Stark gene: COL4A3 was added gene: COL4A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3) |
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| Prepair 1000+ v0.0 | ALAD |
Zornitza Stark gene: ALAD was added gene: ALAD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALAD were set to Porphyria, acute hepatic, 612740 (3) |
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| Prepair 1000+ v0.0 | ACTA1 |
Zornitza Stark gene: ACTA1 was added gene: ACTA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACTA1 were set to Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) |
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