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| Mendeliome v0.9476 | KCNJ13 | Zornitza Stark Marked gene: KCNJ13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9476 | KCNJ13 | Zornitza Stark Gene: kcnj13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9476 | KCNJ13 | Zornitza Stark Phenotypes for gene: KCNJ13 were changed from to Leber congenital amaurosis 16 MIM#614186; Snowflake vitreoretinal degeneration, MIM# 193230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9475 | KCNJ13 | Zornitza Stark Publications for gene: KCNJ13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9474 | KCNJ13 | Zornitza Stark Mode of inheritance for gene: KCNJ13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9473 | KCNJ13 |
Zornitza Stark changed review comment from: LCA and bi-allelic variants: at least 4 individuals reported. Green. Single family reported with snowflake vitreoretinal degeneration and mono-allelic variant, supportive functional data. Amber/Red.; to: Variants in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD), though individuals with bi-allelic variants and LCA with subsequent fibrovascular proliferation described (PMID 31647904). LCA and bi-allelic variants: at least 4 individuals reported. Green. Single family reported with snowflake vitreoretinal degeneration and mono-allelic variant, supportive functional data. Amber/Red. |
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| Mendeliome v0.9473 | KCNJ13 | Zornitza Stark reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: None; Publications: 27203561, 25475713, 21763485, 18179896, 23255580, 31647904; Phenotypes: Leber congenital amaurosis 16 MIM#614186, Snowflake vitreoretinal degeneration, MIM# 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | KCNJ13 |
Zornitza Stark gene: KCNJ13 was added gene: KCNJ13 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ13 was set to Unknown |
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