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| Structural eye disease v0.76 | KCNJ13 | Nicola Ragge reviewed gene: KCNJ13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 16, Snowflake vitreoretinal degeneration, 614186, 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | KCNJ13 | Ivone Leong reviewed gene: KCNJ13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 16, 614186, Snowflake vitreoretinal degeneration, 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | KCNJ13 |
Ivone Leong Source NHS GMS was added to KCNJ13. Mode of inheritance for gene KCNJ13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230 for gene: KCNJ13 |
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| Structural eye disease v0.2 | KCNJ13 |
Ellen McDonagh gene: KCNJ13 was added gene: KCNJ13 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: KCNJ13 was set to Phenotypes for gene: KCNJ13 were set to Eye Disorders |
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