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Inborn errors of metabolism

Gene: DHDDS

Amber List (moderate evidence)

DHDDS (dehydrodolichyl diphosphate synthase subunit)
EnsemblGeneIds (GRCh38): ENSG00000117682
EnsemblGeneIds (GRCh37): ENSG00000117682
OMIM: 608172, Gene2Phenotype
DHDDS is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Retinitis pigmentosa 59 613861. One variant was reported in at least 15 families with retinitis pigmentosa, but only one compound individual with glycosylation defects was identifed so far (PMID 27343064).
Created: 13 Aug 2019, 1:17 p.m. | Last Modified: 13 Aug 2019, 1:17 p.m.
Panel Version: 1.115
Comment on phenotypes: Posterior segment abnormalities;Retinitis pigmentosa (other congenital disorders of glycosylation)
Created: 13 Aug 2019, 1:08 p.m. | Last Modified: 13 Aug 2019, 1:08 p.m.
Panel Version: 1.114

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 59 613861
  • ?Congenital disorder of glycosylation, type 1bb 613861
OMIM
608172
Clinvar variants
Variants in DHDDS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DHDDS were changed from ?Congenital disorder of glycosylation, type 1bb 613861; Developmental delay and seizures with or without movement abnormalities 617836; Retinitis pigmentosa 59 613861 to Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861; Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation) to ?Congenital disorder of glycosylation, type 1bb 613861; Developmental delay and seizures with or without movement abnormalities 617836; Retinitis pigmentosa 59 613861

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DHDDS. Source London North GLH was added to DHDDS.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Retinitis pigmentosa 59 613861 for gene: DHDDS Publications for gene DHDDS were changed from 27604308 to 21295282; 21295283; 27343064

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: DHDDS was added gene: DHDDS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHDDS were set to 27604308 Phenotypes for gene: DHDDS were set to Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation)