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| Prepair 1000+ v1.86 | AKR1D1 | Lilian Downie Marked gene: AKR1D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.86 | AKR1D1 | Lilian Downie Gene: akr1d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.86 | AKR1D1 | Lilian Downie Publications for gene: AKR1D1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.82 | AKR1D1 |
Ee Ming Wong changed review comment from: Well established gene-disease association. Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported. Severe condition with congenital onset, leads to liver failure.; to: Well established gene-disease association. Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported. Severe condition with congenital onset, leads to liver failure. |
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| Prepair 1000+ v1.82 | AKR1D1 | Ee Ming Wong reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12970144, 20522910, 30373615; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, 235555 (3) |
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