Congenital myopathy
Gene: HNRNPA1EnsemblGeneIds (GRCh38): ENSG00000135486
EnsemblGeneIds (GRCh37): ENSG00000135486
OMIM: 164017, Gene2Phenotype
HNRNPA1 is in 7 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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.Created: 10 Jun 2026, 8:49 p.m. | Last Modified: 10 Jun 2026, 8:49 p.m.
Panel Version: 7.61
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).Created: 10 Jun 2026, 8:46 p.m. | Last Modified: 10 Jun 2026, 8:46 p.m.
Panel Version: 7.58
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Myopathy, distal, 3, OMIM:610099; ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Publications
Ida Ertmanska (Genomics England Curator)
Comment on list classification: There are at least 7 unrelated individuals reported in literature with monoallelic variants in HNRNPA1 that presented with distal myopathy (PMIDs 34291734;34722876;35550112;39072769). As disease onset is either juvenile or in early adulthood, this gene is not in scope for Congenital myopathy and should remain Red.Created: 30 Oct 2025, 4:22 p.m. | Last Modified: 30 Oct 2025, 4:22 p.m.
Panel Version: 6.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, distal, 3 , OMIM:610099; distal myopathy, MONDO:0018949
Publications
Anna Sarkozy (Great Ormond Street Hospital)
amber in distal myopathy , green in ALS panel, now reported in families with childhood onset myopathyCreated: 22 May 2026, 1:49 p.m. | Last Modified: 22 May 2026, 1:49 p.m.
Panel Version: 7.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Adult onset myopathy described in single family. Also reported in small number of cases in relation to ALS. Not appropriate for congenital myopathy panel.Created: 3 Feb 2017, 12:02 p.m.
Adult onset myopathy described in single family. Also reported in small number of cases in relation to ALS. Not appropriate for congenital myopathy panel.Created: 30 Jan 2017, 4:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia; Amyotrophic lateral sclerosis 20 615426
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Myopathy, distal, 3, OMIM:610099
- ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
- OMIM
- 164017
- Clinvar variants
- Variants in HNRNPA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Distal myopathies
- Arthrogryposis
- Congenital myopathy
- Amyotrophic lateral sclerosis/motor neuron disease
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: hnrnpa1 has been classified as Red List (Low Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: HNRNPA1 were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for HNRNPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
GEL ()HNRNPA1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen