Congenital disorders of glycosylation
Gene: CHST3GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q7LGC8-1Created: 9 Jan 2020, 11:16 a.m. | Last Modified: 9 Jan 2020, 11:16 a.m.
Panel Version: 2.0
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 13 variants reported.Created: 15 Dec 2016, 2:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for CHST3 were set to 20830804
CHST3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
CHST3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
CHST3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
CHST3 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
CHST3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
CHST3 was created by sleigh