Amyotrophic lateral sclerosis/motor neuron disease
Gene: HNRNPA1EnsemblGeneIds (GRCh38): ENSG00000135486
EnsemblGeneIds (GRCh37): ENSG00000135486
OMIM: 164017, Gene2Phenotype
HNRNPA1 is in 7 panels
3 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert review greenCreated: 19 Dec 2016, 3:04 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
23455423 describes monoallelic mutations in HNRNPA1 in one familial ALS. A few subsequent studies failed to replicate the finding on other familial ALS cohorts (23827524, 24119545, 24612671), but a recent study (27694260) describes one mutation in one Chinese family with ALS. Hence, very rare.
Monoallelic mutations also cause a multisystem proteinopathy manifesting as as frontotemporal lobar degeneration and/or amyotrophic lateral sclerosis and/or Paget disease of bone, and/or inclusion body myositis (23455423, 27066560).
Mutations could present as ALS or complex ALS
Created: 18 Dec 2016, 9:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
Comment on list classification: One case report and one family report - need to carry out a literature search for further evidence.Created: 3 Nov 2016, 6:57 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- 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
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for HNRNPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HNRNPA1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)HNRNPA1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen