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  3. GALNT3
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Renal Tubulopathies and related disorders

Gene: GALNT3

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

1 review

Chirag Patel (Genetic Health Queensland)

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: 19 May 2022, 5:06 a.m. | Last Modified: 19 May 2022, 5:06 a.m.
Panel Version: 0.14579

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 19 May 2022, 5:06 a.m.
Last Modified: 19 May 2022, 5:06 a.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Mendeliome panel version 0.14579

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
OMIM
601756
Clinvar variants
Variants in GALNT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GALNT3 was added gene: GALNT3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT3 were set to 20358599; 32125652; 15133511 Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900