Activity
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| 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 v9.4 | 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 v1.47 | NAGLU |
Ivone Leong Source NHS GMS was added to NAGLU. Source London North GLH was added to NAGLU. |
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| Likely inborn error of metabolism v1.47 | AGL |
Ivone Leong Source NHS GMS was added to AGL. Source London North GLH was added to AGL. |
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| Likely inborn error of metabolism v0.4 | TCN2 |
Ellen McDonagh gene: TCN2 was added gene: TCN2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 27604308 Phenotypes for gene: TCN2 were set to Congenital neutropaenia; Intellectual disability; A- or hypo-gammaglobulinaemia; Agranulocytosis; Combined B and T cell defect; SCID; Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) |
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| Likely inborn error of metabolism v0.4 | NAGLU |
Ellen McDonagh gene: NAGLU was added gene: NAGLU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 27604308 Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis Type IIIB |
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| Likely inborn error of metabolism v0.4 | AGL |
Ellen McDonagh gene: AGL was added gene: AGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 27604308 Phenotypes for gene: AGL were set to Glycogen storage disease type III, Cori (Glycogen storage disorders); Glycogen storage disease IIIb, 232400; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Glycogen Storage Disease Type III; Glycogen Storage Disorders- Muscle; Glycogen storage disease IIIa, 232400 |
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