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| Mendeliome v0.3367 | CLCC1 | Zornitza Stark Phenotypes for gene: CLCC1 were changed from Retinitis pigmentosa 32 to Retinitis pigmentosa 32, MIM# 609913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2848 | CLCC1 | Zornitza Stark Marked gene: CLCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2848 | CLCC1 | Zornitza Stark Gene: clcc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2848 | CLCC1 | Bryony Thompson Classified gene: CLCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2848 | CLCC1 | Bryony Thompson Gene: clcc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2847 | CLCC1 |
Bryony Thompson gene: CLCC1 was added gene: CLCC1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: CLCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCC1 were set to 30157172 Phenotypes for gene: CLCC1 were set to Retinitis pigmentosa 32 Review for gene: CLCC1 was set to AMBER Added comment: A presumptive Pakastani founder mutation (c.75C>A, p.D25E) was identified in 8 consanguineous arRP families. A knockout zebrafish model and a Clcc1 +/- mouse model had a supporting retinal phenotype. Sources: Expert list |
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