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| Prepair 1000+ v0.161 | SLC4A11 | Zornitza Stark Marked gene: SLC4A11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.161 | SLC4A11 | Zornitza Stark Gene: slc4a11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.161 | SLC4A11 | Zornitza Stark Classified gene: SLC4A11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.161 | SLC4A11 | Zornitza Stark Gene: slc4a11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | SLC4A11 | Zornitza Stark Tag for review was removed from gene: SLC4A11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | SLC4A11 | Zornitza Stark reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.93 | SLC4A11 | Zornitza Stark Tag for review tag was added to gene: SLC4A11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | SLC4A11 |
Crystle Lee gene: SLC4A11 was added gene: SLC4A11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A11 were set to 26451371; 20118786; 21203343 Phenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700 Review for gene: SLC4A11 was set to AMBER Added comment: Well established gene-disease association. Inter- and intra-familial variability and no genotype-phenotype correlation Sources: Literature |
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| Prepair 1000+ v0.0 | SLC4A1 |
Zornitza Stark gene: SLC4A1 was added gene: SLC4A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3) |
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