Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: HNRNPA1
HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000135486
EnsemblGeneIds (GRCh37): ENSG00000135486
OMIM: 164017, Gene2Phenotype
HNRNPA1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000135486
EnsemblGeneIds (GRCh37): ENSG00000135486
OMIM: 164017, Gene2Phenotype
HNRNPA1 is in 7 panels
1 review
simon mead (UCL)
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
- OMIM
- 164017
- Clinvar variants
- Variants in HNRNPA1
- Penetrance
- Complete
- Panels with this gene
-
- Distal myopathies
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Arthrogryposis
History Filter Activity
27 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HNRNPA1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen