Hereditary neuropathy
Gene: HARSEnsemblGeneIds (GRCh38): ENSG00000170445
EnsemblGeneIds (GRCh37): ENSG00000170445
OMIM: 142810, Gene2Phenotype
HARS is in 9 panels
6 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1Created: 6 Sep 2019, 2:47 p.m. | Last Modified: 6 Sep 2019, 2:47 p.m.
Panel Version: 1.333
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Monoallelic for Charcot-Marie-Tooth disease, axonal, type 2W (Biallelic for Usher syndrome type 3B).Created: 4 May 2016, 11:40 a.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 4 May 2016, 11:39 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Tags
- OMIM
- 142810
- Clinvar variants
- Variants in HARS
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: HARS.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HARS.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to HARS. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for HARS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list