HNRNPA1

heterogeneous nuclear ribonucleoprotein A1
OMIM: 164017, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber HNRNPA1 in Distal myopathies Level 2: Neurology Version 6.16 Latest signed off version: v6.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Myopathy, distal, 3 , OMIM:610099 distal myopathy, MONDO:0018949 Tags Q4_25_promote_green
Red HNRNPA1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.84	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Red HNRNPA1 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Red HNRNPA1 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Amber HNRNPA1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Myopathy, distal, 3 , OMIM:610099 distal myopathy, MONDO:0018949 Tags Q4_25_promote_green
Green HNRNPA1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3, OMIM:615424, Amyotrophic lateral sclerosis 20, OMIM:615426
Green HNRNPA1 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal