Retinitis pigmentosa_Autosomal Recessive/X-linked
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, 4:41 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
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
Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861 to Congenital disorder of glycosylation, type 1bb, MIM# 613861
Publications for gene: DHDDS were set to
Gene: dhdds has been classified as Green List (High Evidence).
Gene: dhdds has been classified as Amber List (Moderate Evidence).
Gene: dhdds has been classified as Amber List (Moderate Evidence).
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