Hereditary ataxia with onset in adulthood
Gene: DYNC1H1
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 19 Sep 2019, 1:21 p.m. | Last Modified: 19 Sep 2019, 1:21 p.m.
Panel Version: 1.209
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple case reports in literature. However, cerebellar abnormalities do not seem to be a particularly common feature. ?More suited to other panelsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal dominant MR 13, 614563 most relevant
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Gene: dync1h1 has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for gene: DYNC1H1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: DYNC1H1 were changed from Autosomal dominant MR 13, 614563 most relevant; Charcot Marie Tooth, SMA, Intellectual disability to Autosomal dominant MR 13, 614563; Charcot Marie Tooth, SMA, Intellectual disability
Gene: dync1h1 has been classified as Amber List (Moderate Evidence).
Added phenotypes Autosomal dominant MR 13, 614563 most relevant for gene: DYNC1H1
Source NHS GMS was added to DYNC1H1.
Source Wessex and West Midlands GLH was added to DYNC1H1.
Louise Daugherty: Comment on phenotypes: Implica
gene: DYNC1H1 was added gene: DYNC1H1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability