GALNT3

polypeptide N-acetylgalactosaminyltransferase 3
OMIM: 601756
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial 211900, Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
R-numbers: R162
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies), Tumoral calcinosis, hyperphosphatemic, familial 211900
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HFTC1, Familial tumoural calcinosis, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial I 211900, Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900