| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Syndromic Retinopathy v0.198 | CLCN2 | Zornitza Stark Marked gene: CLCN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.198 | CLCN2 | Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.198 | CLCN2 | Zornitza Stark Classified gene: CLCN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.198 | CLCN2 | Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.197 | CLCN2 |
Michelle Torres gene: CLCN2 was added gene: CLCN2 was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN2 were set to 36964785 Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia MIM# 615651 Review for gene: CLCN2 was set to GREEN Added comment: The homozygous R753X was detected in a Chinese individual from a consanguineous family with leukodystrophy with ataxia (LKPAT) (described in a previous paper) as well as severe bilateral retinal degeneration with loss of photoreceptor and RPE. Four additional patients with LKPAT (described elsewhere) have been reported with homozygous variants and ocular features (Table 1). Transfection to HEK293T cells showed that R753X reduced channel activity compared to wild-type. Additionally, patient iPSC-derived RPE cells carrying the R753X exhibited dysfunctional ClC-2 chloride channels and outer segment phagocytosis. These functions were rescued following the repair of the CLCN2 mutation using the CRISPR-Cas9 system. NB: No significant difference was observed in the R753X mRNA expression levels between the control and patient hiPSC-RPE cells (suggesting NMD escape). Sources: Literature |
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