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| Congenital Stationary Night Blindness v0.2 | ITM2B | Bryony Thompson Marked gene: ITM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.2 | ITM2B | Bryony Thompson Gene: itm2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.2 | ITM2B |
Bryony Thompson gene: ITM2B was added gene: ITM2B was added to Congenital Stationary Night Blindness. Sources: Expert list Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITM2B were set to 24026677 Phenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 Review for gene: ITM2B was set to RED Added comment: Single family reported with an unusual retinal dystrophy phenotype (most similar to CSNB), segregating a heterozygous missense variant. Minimal functional evidence assessing protein expression and localisation in different tissues. Sources: Expert list |
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