Childhood onset dystonia, chorea or related movement disorder
Gene: DHDDS

DHDDS (dehydrodolichyl diphosphate synthase subunit)
EnsemblGeneIds (GRCh38): ENSG00000117682
EnsemblGeneIds (GRCh37): ENSG00000117682
OMIM: 608172, Gene2Phenotype
DHDDS is in 12 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.

Panel Version: 1.217

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.

Panel Version: 1.212

Created: 3 Mar 2022, 4:45 p.m.
Last Modified: 3 Mar 2022, 4:45 p.m.
Panel version: 1.217

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 28 Oct 2021, 2:27 p.m. | Last Modified: 28 Oct 2021, 2:27 p.m.

Panel Version: 1.166

Monoallelic variants are associated with a neurodevelopmental disorder comprising infantile or childhood-onset DD/ID, epilepsy and a variable movement phenotype which typically initially manifests as action myoclonus/cortical tremor and in some cases ataxia, later progressing to hyperkinetic and/or hypokinetic movement disorder. Motor defects can be a presenting sign indicated at onset. An informative description of the movement phenotype is provided by Galosi et al. 2021 (PMID: 34382076). >3 unrelated individuals reported in literature.
Created: 28 Oct 2021, 2:26 p.m. | Last Modified: 28 Oct 2021, 2:26 p.m.

Panel Version: 1.162

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

Phenotypes
Developmental delay and seizures with or without movement abnormalities, OMIM:617836

Publications

Created: 28 Oct 2021, 2:26 p.m.
Last Modified: 28 Oct 2021, 2:26 p.m.
Panel version: 1.162

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
London North GLH

Phenotypes

Developmental delay and seizures with or without movement abnormalities, OMIM:617836

OMIM

608172

Clinvar variants

Variants in DHDDS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_rating was removed from gene: DHDDS.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to DHDDS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Oct 2021, Gel status: 2