Retinitis pigmentosa_Autosomal Recessive/X-linked

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

2 reviews

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, 4:41 a.m. | Last Modified: 29 Nov 2024, 4:41 a.m.
Panel Version: 0.152
Comment when marking as ready: Gene is associated with multiple phenotypes, RP only reported in association with this founder Jewish Ashkenazi variant.
Created: 24 Feb 2021, 10:52 a.m. | Last Modified: 24 Feb 2021, 10:52 a.m.
Panel Version: 0.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Founder missense within Ashkenazi Jew populations (p.K42E). Mild LOF proven (Bar-El ML, (2020), OMIM).

Mouse model did not show a strong replication of the human phenotype (Rao, 2020)
Created: 24 Feb 2021, 3:03 a.m. | Last Modified: 24 Feb 2021, 3:03 a.m.
Panel Version: 0.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 59 MIM#613861

Publications

History Filter Activity

29 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHDDS were set to

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).

24 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DHDDS was added gene: DHDDS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,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