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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established for RP.
PMID: 27343064: Report of a patient with CDG.
PMID: 21295283: AF family with 3 sibs diagnosed with RP in teenage years.
K42E founder variant

Note: ClinGen has lumped both conditions together, and OMIM has given these two disorders the same MIM#; likely represent a continuum of severity rather than distinct disorders.
Created: 21 Jan 2025, 3:06 a.m. | Last Modified: 21 Jan 2025, 3:06 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 59, MIM#613861; Congenital disorder of glycosylation, type 1bb, MIM# 613861

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 59, MIM#613861
  • Congenital disorder of glycosylation, type 1bb, MIM# 613861
OMIM
608172
Clinvar variants
Variants in DHDDS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861 (3) to Retinitis pigmentosa 59, MIM#613861; Congenital disorder of glycosylation, type 1bb, MIM# 613861

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHDDS were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Retinitis pigmentosa 59, 613861 (3) for gene: DHDDS

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DHDDS was added gene: DHDDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)