Hereditary ataxia

Gene: DYNC1H1

Red List (low evidence)

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 16 panels

1 review

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Not sure about this - ataxia seems a very rare part of phenotype
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

History Filter Activity

29 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jun 2016, Gel status: 1

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC1H1 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services