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Prepair 1000+ v1.298 | LCAT | Zornitza Stark Marked gene: LCAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.298 | LCAT | Zornitza Stark Gene: lcat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.298 | LCAT | Zornitza Stark Phenotypes for gene: LCAT were changed from Norum disease, 245900 (3) to Norum disease, MIM#245900; Fish-eye disease, MIM# 136120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.297 | LCAT | Zornitza Stark Publications for gene: LCAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.296 | LCAT | Zornitza Stark Tag for review tag was added to gene: LCAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.296 | LCAT | Zornitza Stark reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fish-eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.287 | LCAT |
Lauren Rogers changed review comment from: Well established gene-disease association. A disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. Onset is generally in adulthood; to: Well established gene-disease association. A disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. Onset/diagnosis is generally in adulthood |
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Prepair 1000+ v1.287 | LCAT | Lauren Rogers reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 30720493, 6624548, 34256778; Phenotypes: Norum disease (MIM#245900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.287 | LCAT | Lauren Rogers Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.287 | LCAT | Lauren Rogers reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Norum disease (MIM#245900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | LCAT |
Zornitza Stark gene: LCAT was added gene: LCAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCAT were set to Norum disease, 245900 (3) |