Congenital disorders of glycosylation
Gene: SRD5A3
Comment on rating: At least 38 genetically confirmed patients (from 26 families) have been reported. The frequency and prevalence of the disease are not known. Most patients have been reported from Afghanistan, the Czech Republic, Iran, Pakistan, Poland, Puerto Rico, and Turkey.
Comment on the mode of pathogenicity: Loss-of-function; At least 15 variants have been reported: 11 nonsense variants, 3 missense variants, and a large deletion (www.lovd.nl/SRD5A3).
Comment on the mode of inheritance: AR (homozygous or compound heterozygous)Created: 29 Aug 2020, 6:11 a.m. | Last Modified: 29 Aug 2020, 6:11 a.m.
Panel Version: 2.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Disorder of Glycosylation, Type Iq (OMIM: 612379); Kahrizi Syndrome (OMIM: 612713)
Publications
Mode of pathogenicity
Other
Comment on phenotypes: Also associated with Kahrizi syndrome 612713Created: 19 Dec 2016, 12:07 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported in 5 unrelated cases.Created: 19 Dec 2016, 12:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: SRD5A3 were changed from Congenital disorder of glycosylation, type Iq 612379; SRD5A3-CDG (Disorders of protein N-glycosylation) to Congenital Disorder of Glycosylation, Type Iq OMIM:612379; Kahrizi Syndrome OMIM:612713
Publications for gene: SRD5A3 were set to 27480077
Promoted to V1 19th December 2016
Phenotypes for SRD5A3 were set to Congenital disorder of glycosylation, type Iq 612379;SRD5A3-CDG (Disorders of protein N-glycosylation)
Phenotypes for SRD5A3 were set to ; Congenital disorder of glycosylation, type Iq 612379; ; SRD5A3-CDG (Disorders of protein N-glycosylation)
This gene has been classified as Green List (High Evidence).
Publications for SRD5A3 were set to 27480077
SRD5A3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
SRD5A3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
SRD5A3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
SRD5A3 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
SRD5A3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
SRD5A3 was created by sleigh