Congenital Disorders of Glycosylation
Gene: GALNT3

GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000115339
EnsemblGeneIds (GRCh37): ENSG00000115339
OMIM: 601756, Gene2Phenotype
GALNT3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

GALNT3 is one of several enzymes that catalyze the reaction UDP-GalNAc + polypeptide-(Ser/Thr)-OH to GalNAc-alpha-O-Ser/Thr-polypeptide + UDP, thereby initiating O-glycosylation of serine and threonine residues on an array of glycoproteins.

Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterised by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. More than 5 unrelated families reported.
Created: 21 Dec 2020, 7:32 a.m. | Last Modified: 21 Dec 2020, 7:32 a.m.

Panel Version: 0.343

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900

Publications

Created: 21 Dec 2020, 7:32 a.m.
Last Modified: 21 Dec 2020, 7:32 a.m.
Panel version: 0.343

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900

OMIM

601756

Clinvar variants

Variants in GALNT3

Penetrance

None

Publications

Panels with this gene