This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GALNT3
GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000115339
EnsemblGeneIds (GRCh37): ENSG00000115339
OMIM: 601756, Gene2Phenotype
GALNT3 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000115339
EnsemblGeneIds (GRCh37): ENSG00000115339
OMIM: 601756, Gene2Phenotype
GALNT3 is in 10 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
211900 - Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial I 211900
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Tumoral calcinosis, hyperphosphatemic, familial I 211900
- OMIM
- 601756
- Clinvar variants
- Variants in GALNT3
- Penetrance
- None
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Multiple monogenic benign skin tumours
- Familial tumoral calcinosis
- Pigmentary skin disorders
- Undiagnosed metabolic disorders
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GALNT3 was added gene: GALNT3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial I 211900