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| Skeletal dysplasia v1.70 | VCP |
chirag patel changed review comment from: Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). PMID 41979051 reports 7 families with Adams-Oliver syndrome and rare heterozygous missense VCP variants (4 de novo, 2 inherited from affected parent, 1 presumed inherited). Variant‑specific functional assays support pathogenicity as they were hypermorphic for ATPase activity. Pulmonary hypertension seen in 5/7 families. 3 families had features of multisystem proteinopathy 1 (MSP1) - progressive myopathy (2 families), neuropathy (1 family), lytic bone lesions (1 family), and frontotemporal dementia (1 family) - and had offspring with AOS and severe or fatal PH, suggesting these conditions form a spectrum of VCP-related disease. Sources: Literature; to: Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). PMID 41979051 reports 7 families with Adams-Oliver syndrome and rare heterozygous missense VCP variants (4 de novo, 2 inherited from affected parent, 1 presumed inherited). Variant‑specific functional assays support pathogenicity as they were hypermorphic for ATPase activity. Congenital heart defects seen in 6/7 and pulmonary hypertension seen in 5/7 families. 3 families had features of multisystem proteinopathy 1 (MSP1) - progressive myopathy (2 families), neuropathy (1 family), lytic bone lesions (1 family), and frontotemporal dementia (1 family) - and had offspring with AOS and severe or fatal PH, suggesting these conditions form a spectrum of VCP-related disease. Sources: Literature |
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| Skeletal dysplasia v1.70 | VCP | chirag patel Marked gene: VCP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.70 | VCP | chirag patel Gene: vcp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.70 | VCP | chirag patel Classified gene: VCP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.70 | VCP | chirag patel Gene: vcp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.69 | VCP |
chirag patel gene: VCP was added gene: VCP was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VCP were set to 41979051 Phenotypes for gene: VCP were set to Adams-Oliver syndrome MONDO:0007034, VCP-related Review for gene: VCP was set to GREEN Added comment: Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). PMID 41979051 reports 7 families with Adams-Oliver syndrome and rare heterozygous missense VCP variants (4 de novo, 2 inherited from affected parent, 1 presumed inherited). Variant‑specific functional assays support pathogenicity as they were hypermorphic for ATPase activity. Pulmonary hypertension seen in 5/7 families. 3 families had features of multisystem proteinopathy 1 (MSP1) - progressive myopathy (2 families), neuropathy (1 family), lytic bone lesions (1 family), and frontotemporal dementia (1 family) - and had offspring with AOS and severe or fatal PH, suggesting these conditions form a spectrum of VCP-related disease. Sources: Literature |
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