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| Albinism or congenital nystagmus v4.11 | CLCN7 | Ida Ertmanska Phenotypes for gene: CLCN7 were changed from Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; hypopigmentation, organomegaly, and delayed myelination and development, MONDO:0032805 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.10 | CLCN7 | Ida Ertmanska Publications for gene: CLCN7 were set to 31155284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.9 | CLCN7 | Ida Ertmanska Mode of inheritance for gene: CLCN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.8 | CLCN7 |
Ida Ertmanska Tag watchlist was removed from gene: CLCN7. Tag Q2_26_promote_green tag was added to gene: CLCN7. |
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| Albinism or congenital nystagmus v4.8 | CLCN7 | Ida Ertmanska commented on gene: CLCN7: Comment on list classification: There are now 5 unrelated individuals (4 male, 1 female) with Hypopigmentation, organomegaly, and delayed myelination and development, harbouring heterozygous CLCN7 variants. 4/5 patients had confirmed de novo status. 2 different variants were reported, with p.Tyr715Cys recurring in 4 unrelated patients. Based on available evidence, CLCN7 should be promoted to Green on Albinism or congenital nystagmus. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.8 | CLCN7 | Ida Ertmanska reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38838776, 39056574; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.19 | CLCN7 | Arina Puzriakova Classified gene: CLCN7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.19 | CLCN7 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber as two individuals have been reported and with the same variant. Although there is some functional support, an additional independent case would help corroborate this association and indicate whether this is a variant specific phenotype. Different heterozygous CLCN7 variants have been linked to AD osteopetrosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.19 | CLCN7 | Arina Puzriakova Gene: clcn7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.18 | CLCN7 |
Arina Puzriakova gene: CLCN7 was added gene: CLCN7 was added to Albinism or congenital nystagmus. Sources: Literature watchlist tags were added to gene: CLCN7. Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN7 were set to 31155284 Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CLCN7 was set to AMBER Added comment: Nicoli et al., 2019 (PMID: 31155284) reported on two unrelated individuals from different ethnic backgrounds with the same de novo gain-of-function missense variant (c.2144A>G, p.Tyr715Cys) in the CLCN7 gene. Both children had generalised cutaneous hypopigmentation without ocular involvement, delayed myelination and motor development, and organomegaly. Biopsies showed that both probands had cytoplasmic inclusions, characteristic of those seen in lysosomal-storage disorders. Human phenotypes were recapitulated by a mouse model harbouring the knock-in Clcn7 variant. This gene-disease relationship is listed in OMIM (MIM# 618541) but is not yet in G2P. Sources: Literature |
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