Hereditary ataxia with onset in adulthood
Gene: DYNC1H1

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Amber
Created: 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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple case reports in literature. However, cerebellar abnormalities do not seem to be a particularly common feature. ?More suited to other panels
Created: 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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
NHS GMS
Wessex and West Midlands GLH
Hereditary ataxia v1.148

Phenotypes

Autosomal dominant MR 13, 614563
Charcot Marie Tooth, SMA, Intellectual disability

OMIM

600112

Clinvar variants

Variants in DYNC1H1

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene