Pigmentary skin disorders

Gene: GALNT3

Green List (high evidence)

GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000115339
EnsemblGeneIds (GRCh37): ENSG00000115339
OMIM: 601756, Gene2Phenotype
GALNT3 is in 10 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: GALNT3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • HFTC1
  • Familial tumoural calcinosis
  • TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
OMIM
601756
Clinvar variants
Variants in GALNT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes HFTC1; TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 for gene: GALNT3 Publications for gene GALNT3 were changed from to 15133511

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to GALNT3.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GALNT3 was added gene: GALNT3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT3 were set to Familial tumoural calcinosis