Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: DHDDS

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

Created: 24 Feb 2021, 10:52 a.m.
Last Modified: 24 Feb 2021, 10:52 a.m.
Panel version: 0.152

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

PMID: 32272552
33077723

Created: 24 Feb 2021, 3:03 a.m.
Last Modified: 24 Feb 2021, 3:03 a.m.
Panel version: 0.81

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

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

OMIM

608172

Clinvar variants

Variants in DHDDS

Penetrance

None

Publications

Panels with this gene