Congenital disorders of glycosylation
Gene: GALNT3GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q14435-1Created: 9 Jan 2020, 2:35 p.m. | Last Modified: 9 Jan 2020, 2:35 p.m.
Panel Version: 2.0
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 13 variants reportedCreated: 19 Dec 2016, 9:48 a.m.
familial tumoral calcinosisCreated: 12 Dec 2016, 4:11 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).
Phenotypes for GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial 211900; Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Publications for GALNT3 were set to 15133511
GALNT3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
GALNT3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
GALNT3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
GALNT3 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
GALNT3 was created by sleigh
GALNT3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory