Skeletal dysplasia
Gene: GALNT3

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

211900 - Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial I 211900

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GALNT3; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in this phenotype
Created: 12 Jul 2016, 7:40 a.m.

Created: 12 Jul 2016, 7:40 a.m.

Panel version: 0.483

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:04 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Emory Genetics Laboratory
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Tumoral calcinosis, hyperphosphatemic, familial I 211900
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900

OMIM

601756

Clinvar variants

Variants in GALNT3

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial I 211900 for gene: GALNT3

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GALNT3. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4