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Congenital myopathy v7.61 HNRNPA1 Achchuthan Shanmugasundram Classified gene: HNRNPA1 as Red List (low evidence)
Congenital myopathy v7.61 HNRNPA1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one patient reported so far with early-onset myopathy and monoallelic HNRNPA1 variants. Hence, this gene should remain red with the current evidence.
Congenital myopathy v7.61 HNRNPA1 Achchuthan Shanmugasundram Gene: hnrnpa1 has been classified as Red List (Low Evidence).
Congenital myopathy v7.60 HNRNPA1 Achchuthan Shanmugasundram Phenotypes for gene: HNRNPA1 were changed from ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 to ?Myopathy, distal, 3, OMIM:610099; ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Congenital myopathy v7.59 HNRNPA1 Achchuthan Shanmugasundram Publications for gene: HNRNPA1 were set to
Congenital myopathy v7.58 HNRNPA1 Achchuthan Shanmugasundram edited their review of gene: HNRNPA1: Added comment: PMID:39121134 (2024) reported a female patient with early childhood onset, rapidly progressive generalized myopathy including ultrastructural findings in line with a proteinopathy. Between 3 and 5 years, she developed progressive generalised muscle weakness and atrophy affecting her extremities, limb girdle and trunk muscles accompanied by worsening of gait instability, myopathic facies and difficulties chewing and swallowing. She was identified with a 85-bp deletion in HNRNPA1 gene (c.684_751 + 17del).; Changed rating: RED; Changed phenotypes to: ?Myopathy, distal, 3, OMIM:610099, ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Congenital myopathy v7.58 HNRNPA1 Achchuthan Shanmugasundram reviewed gene: HNRNPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39121134; Phenotypes: ?Myopathy, distal, 3 , ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v7.14 HNRNPA1 Anna Sarkozy edited their review of gene: HNRNPA1: Added comment: amber in distal myopathy , green in ALS panel, now reported in families with childhood onset myopathy; Changed rating: GREEN; Changed publications to: 39121134; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v6.38 HNRNPA1 Ida Ertmanska reviewed gene: HNRNPA1: Rating: RED; Mode of pathogenicity: None; Publications: 34291734, 34722876, 35550112, 39072769; Phenotypes: Myopathy, distal, 3 , OMIM:610099, distal myopathy, MONDO:0018949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v3.46 HNRNPA1 Arina Puzriakova Phenotypes for gene: HNRNPA1 were changed from ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal to ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Congenital myopathy HNRNPA1 Anna Sarkozy reviewed HNRNPA1
Congenital myopathy HNRNPA1 Helen Brittain marked HNRNPA1 as ready
Congenital myopathy HNRNPA1 Helen Brittain reviewed HNRNPA1