Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: HNRNPA2B1EnsemblGeneIds (GRCh38): ENSG00000122566
EnsemblGeneIds (GRCh37): ENSG00000122566
OMIM: 600124, Gene2Phenotype
HNRNPA2B1 is in 5 panels
3 reviews
Naomi Baker (Victorian Clinical Genetics Services)
PMID:35484142 reports 11 individuals in 10 families with heterozygous frameshift variants that result in the identical protein extension. Phenotype presents as an early-onset oculopharyngeal muscular dystrophy-like phenotype, and includes ptosis, ophthalmoplegia, symmetric proximal and distal weakness, moderate progression, dysphagia, respiratory insufficiency.Created: 5 May 2022, 1:59 a.m. | Last Modified: 5 May 2022, 1:59 a.m.
Panel Version: 0.13797
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
oculopharyngeal muscular dystrophy, MONDO:0008116
Publications
- PMID:35484142
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model.
Sources: LiteratureCreated: 20 Aug 2020, 2:53 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 2 MIM#615422
Publications
Bryony Thompson (Royal Melbourne Hospital)
One family reported and extensive functional analysis of protein, including a drosophila model.Created: 10 Feb 2020, 5:15 a.m. | Last Modified: 10 Feb 2020, 5:15 a.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Literature
- Royal Melbourne Hospital
- Phenotypes
-
- oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
- OMIM
- 600124
- Clinvar variants
- Variants in HNRNPA2B1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HNRNPA2B1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0014178; oculopharyngeal muscular dystrophy, MONDO:0008116 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hnrnpa2b1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hnrnpa2b1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965; 35484142 Phenotypes for gene: HNRNPA2B1 were set to inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0014178; oculopharyngeal muscular dystrophy, MONDO:0008116