Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: DHDDS

Amber List (moderate evidence)

DHDDS (dehydrodolichyl diphosphate synthase subunit)
EnsemblGeneIds (GRCh38): ENSG00000117682
EnsemblGeneIds (GRCh37): ENSG00000117682
OMIM: 608172, Gene2Phenotype
DHDDS is in 13 panels

1 review

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, 2:43 p.m. | Last Modified: 28 Oct 2021, 2:43 p.m.
Panel Version: 2.243
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 - at least 11 unrelated cases of ataxia reported in literature.
Sources: Literature
Created: 28 Oct 2021, 2:43 p.m.

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

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Tags
Q4_21_rating
OMIM
608172
Clinvar variants
Variants in DHDDS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: dhdds has been classified as Amber List (Moderate Evidence).

28 Oct 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: DHDDS was added gene: DHDDS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Q4_21_rating tags were added to gene: DHDDS. Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHDDS were set to 29100083; 33798445; 34182312; 34382076 Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Review for gene: DHDDS was set to GREEN