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| Likely inborn error of metabolism v9.7 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.6 | CLCN7 |
Ida Ertmanska changed review comment from: PMID: 38838776 Polovitskaya et al., 2024 Report of unrelated male 2 individuals with hypopigmentation, muscular hypotonia, failure to thrive, organomegaly, delayed myelination, and psychomotor developmental disorder (no osteopetrosis), habrouring CLCN7 variants: p.Tyr715Cys (inheritance not confirmed) and p.Lys285Thr (de novo). PMID: 39056574 Lee et al., 2024 Report of a Taiwanese boy presenting with significant developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation (generalized hypopigmentation of the skin, hair, and ocular albinism that had been present since birth) without osteopetrosis. WES revealed a de novo GOF variant, p.Tyr715Cys in CLCN7.; to: PMID: 38838776 Polovitskaya et al., 2024 Report of unrelated male 2 individuals with hypopigmentation, muscular hypotonia, failure to thrive, organomegaly, delayed myelination, and psychomotor developmental disorder (no osteopetrosis), habrouring CLCN7 variants: p.Tyr715Cys (inheritance not confirmed) and p.Lys285Thr (de novo). Patient fibroblast studies showed that both disease-associated mutations affect the inhibition of ClC-7 by PI(3,5)P2 and shift its voltage-dependent gating to more physiological lysosomal voltages. PMID: 39056574 Lee et al., 2024 Report of a Taiwanese boy presenting with significant developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation (generalized hypopigmentation of the skin, hair, and ocular albinism that had been present since birth) without osteopetrosis. WES revealed a de novo GOF variant, p.Tyr715Cys in CLCN7. |
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| Likely inborn error of metabolism v9.6 | 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 Likely inborn error of metabolism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.6 | CLCN7 | Ida Ertmanska Publications for gene: CLCN7 were set to 31155284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.5 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.4 | 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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| Likely inborn error of metabolism v9.4 | CLCN7 |
Ida Ertmanska changed review comment from: PMID: 38838776 Polovitskaya et al., 2024 Report of 2 individuals with hypopigmentation, organomegaly, and delayed myelination and development (no osteopetrosis), habrouring CLCN7 variants: p.Tyr715Cys and novel p.Lys285Thr. PMID: 39056574 Lee et al., 2024 Report of a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation (generalized hypopigmentation of the skin, hair, and ocular albinism that had been present since birth) without osteopetrosis. WES revealed a de novo GOF variant, p.Tyr715Cys in CLCN7.; to: PMID: 38838776 Polovitskaya et al., 2024 Report of unrelated male 2 individuals with hypopigmentation, muscular hypotonia, failure to thrive, organomegaly, delayed myelination, and psychomotor developmental disorder (no osteopetrosis), habrouring CLCN7 variants: p.Tyr715Cys (inheritance not confirmed) and p.Lys285Thr (de novo). PMID: 39056574 Lee et al., 2024 Report of a Taiwanese boy presenting with significant developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation (generalized hypopigmentation of the skin, hair, and ocular albinism that had been present since birth) without osteopetrosis. WES revealed a de novo GOF variant, p.Tyr715Cys in CLCN7. |
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| Likely inborn error of metabolism v9.4 | CLCN7 |
Ida Ertmanska changed review comment from: PMID: 38838776 Polovitskaya et al., 2024 Report of 2 individuals with hypopigmentation, organomegaly, and delayed myelination and development (no osteopetrosis), habrouring CLCN7 variants: p.Tyr715Cys and novel p.Lys285Thr. PMID: 39056574 Lee et al., 2024 Report of a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. WES revealed a de novo GOF variant, p.Tyr715Cys in CLCN7.; to: PMID: 38838776 Polovitskaya et al., 2024 Report of 2 individuals with hypopigmentation, organomegaly, and delayed myelination and development (no osteopetrosis), habrouring CLCN7 variants: p.Tyr715Cys and novel p.Lys285Thr. PMID: 39056574 Lee et al., 2024 Report of a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation (generalized hypopigmentation of the skin, hair, and ocular albinism that had been present since birth) without osteopetrosis. WES revealed a de novo GOF variant, p.Tyr715Cys in CLCN7. |
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| Likely inborn error of metabolism v9.4 | CLCN7 | Ida Ertmanska reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 38838776, 39056574; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v4.113 | CLCN7 | Sarah Leigh Entity copied from Lysosomal storage disorder v3.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v4.113 | CLCN7 |
Sarah Leigh gene: CLCN7 was added gene: CLCN7 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Amber,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 |
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