Congenital Disorders of Glycosylation

Gene: DHDDS

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ClinGen have lumped the CDG together with the RP -- likely represent a continuum of severity rather than distinct disorders.
Created: 29 Nov 2024, 4:37 a.m. | Last Modified: 29 Nov 2024, 4:37 a.m.
Panel Version: 1.56
Single family reported with evidence of CDG. Bi-allelic variants in this gene have an established association with retinitis pigmentosa, and mono-allelic variants with a neurodevelopmental disorder.
Created: 22 Jul 2020, 8:49 a.m. | Last Modified: 22 Jul 2020, 8:49 a.m.
Panel Version: 0.139

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type 1bb, MIM# 613861

Publications

History Filter Activity

29 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHDDS were set to 27343064

29 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhdds has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhdds has been classified as Red List (Low Evidence).

22 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHDDS were changed from to Congenital disorder of glycosylation, type 1bb, MIM# 613861

22 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHDDS were set to

22 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DHDDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhdds has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DHDDS was added gene: DHDDS was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DHDDS was set to Unknown