Congenital Disorders of Glycosylation
Gene: DHDDS
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
Publications for gene: DHDDS were set to 27343064
Gene: dhdds has been classified as Green List (High Evidence).
Gene: dhdds has been classified as Red List (Low Evidence).
Phenotypes for gene: DHDDS were changed from to Congenital disorder of glycosylation, type 1bb, MIM# 613861
Publications for gene: DHDDS were set to
Mode of inheritance for gene: DHDDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: dhdds has been classified as Red List (Low Evidence).
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