| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 | KCNJ13 | Bryony Thompson Marked gene: KCNJ13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 | KCNJ13 | Bryony Thompson Gene: kcnj13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 | KCNJ13 | Bryony Thompson Classified gene: KCNJ13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.45 | KCNJ13 | Bryony Thompson Gene: kcnj13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.44 | KCNJ13 |
Bryony Thompson gene: KCNJ13 was added gene: KCNJ13 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: KCNJ13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ13 were set to 25921210; 21763485 Phenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16 MIM#614186 Review for gene: KCNJ13 was set to GREEN Added comment: At least 3 families reported with homozygous variants and shRNA lentiviral mouse assays that recapitulate LCA phenotype. Sources: Expert list |
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