Congenital disorders of glycosylation
Gene: SLC35D1Comment on phenotypes: 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)Created: 11 Mar 2021, 5:24 p.m. | Last Modified: 11 Mar 2021, 5:24 p.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.Created: 19 Dec 2016, 12:05 p.m.
Phenotypes for gene: SLC35D1 were changed from 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia OMIM:269250; schneckenbecken dysplasia MONDO:0010013
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for SLC35D1 were set to 17952091; 19508970
SLC35D1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
SLC35D1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
SLC35D1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
SLC35D1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
SLC35D1 was created by sleigh