Congenital disorders of glycosylation
Gene: DDOSTComment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 2 variants reported as compound heterozygotes in one patient.Created: 15 Dec 2016, 4:13 p.m.
A single patient has been reported. The biochemical function of this protein suggests that this gene should be included in the list, but there are no more confirmed patients thus far.Created: 12 Dec 2016, 1:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
Publications for DDOST were set to 22305527
This gene has been classified as Red List (Low Evidence).
DDOST was added to Congenital disorders of glycosylationpanel. Source: UKGTN
DDOST was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
DDOST was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
DDOST was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
DDOST was created by sleigh