Congenital muscular dystrophy and congenital myopathy
Gene: HNRNPA1EnsemblGeneIds (GRCh38): ENSG00000135486
EnsemblGeneIds (GRCh37): ENSG00000135486
OMIM: 164017, Gene2Phenotype
HNRNPA1 is in 7 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
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
-
- ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
- OMIM
- 164017
- Clinvar variants
- Variants in HNRNPA1
- Penetrance
- Complete
- Panels with this gene
-
- Congenital myopathy
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset neurodegenerative disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Amyotrophic lateral sclerosis/motor neuron disease
- Distal myopathies
- Arthrogryposis
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: HNRNPA1 was added gene: HNRNPA1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNRNPA1 were set to ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 Penetrance for gene: HNRNPA1 were set to Complete