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| Congenital Heart Defect v0.418 | ALDH1A2 | Gina Ravenscroft commented on gene: ALDH1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.262 | ALDH1A2 | Zornitza Stark Phenotypes for gene: ALDH1A2 were changed from Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features to Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.261 | ALDH1A2 | Zornitza Stark reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.100 | ALDH1A2 | Bryony Thompson Marked gene: ALDH1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.100 | ALDH1A2 | Bryony Thompson Gene: aldh1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.100 | ALDH1A2 | Bryony Thompson Classified gene: ALDH1A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.100 | ALDH1A2 | Bryony Thompson Gene: aldh1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.99 | ALDH1A2 |
Bryony Thompson gene: ALDH1A2 was added gene: ALDH1A2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183; 10192400 Phenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features Review for gene: ALDH1A2 was set to GREEN Added comment: Two families, an Australian family with segregation of biallelic variants and an unrelated Italian proband with biallelic variants with similar phenotypes. Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due utero defects in early heart morphogenesis. Sources: Literature |
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