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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. HNRNPA1
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: HNRNPA1

Green List (high evidence)
HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000135486
EnsemblGeneIds (GRCh37): ENSG00000135486
OMIM: 164017, Gene2Phenotype
HNRNPA1 is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Protein aggregation is expected to be the mechanism of disease. Most individuals with IBMPFD have limb-girdle weakness
Sources: Literature
Created: 14 Apr 2023, 6:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179

Publications

Mode of pathogenicity
Other

Created: 14 Apr 2023, 6:04 a.m.

Panel version: 0.90

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 34722876: single multigenerational family reported with slowly progressive distal myopathy and 160bp deletion involving exon 10.
Created: 16 Aug 2023, 6:26 a.m. | Last Modified: 16 Aug 2023, 6:27 a.m.
Panel Version: 1.24
At least 5 families reported.
Created: 4 May 2022, 5:41 a.m. | Last Modified: 4 May 2022, 5:41 a.m.
Panel Version: 0.13696

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 20 MIM#615426; Myopathy, distal, 3, MIM# 610099

Publications

Created: 4 May 2022, 5:41 a.m.
Last Modified: 16 Aug 2023, 6:27 a.m.
Panel version: 1.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, distal, 3, MIM# 610099
  • inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179
OMIM
164017
Clinvar variants
Variants in HNRNPA1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HNRNPA1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 to Myopathy, distal, 3, MIM# 610099; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179

16 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HNRNPA1 were set to 23455423; 27066560

17 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hnrnpa1 has been classified as Green List (High Evidence).

17 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hnrnpa1 has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: HNRNPA1 was added gene: HNRNPA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA1 were set to 23455423; 27066560 Phenotypes for gene: HNRNPA1 were set to inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 Mode of pathogenicity for gene: HNRNPA1 was set to Other