Arthrogryposis
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
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 5 Jan 2017, 9:06 a.m.
Details
- Sources
-
- Expert Review Red
- 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
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
5 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HNRNPA1 was created by ellenmcdonagh
21 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HNRNPA1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen