1. Panels
  2. Congenital disorders of glycosylation
  3. GALNT3
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital disorders of glycosylation

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

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q14435-1
Created: 9 Jan 2020, 2:35 p.m. | Last Modified: 9 Jan 2020, 2:35 p.m.
Panel Version: 2.0
Created: 9 Jan 2020, 2:35 p.m.
Last Modified: 9 Jan 2020, 2:35 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 13 variants reported
Created: 19 Dec 2016, 9:48 a.m.
Created: 19 Dec 2016, 9:48 a.m.

Panel version: 0.74

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

familial tumoral calcinosis
Created: 12 Dec 2016, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 4:11 p.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial 211900
  • Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
OMIM
601756
Clinvar variants
Variants in GALNT3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial 211900; Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)

19 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GALNT3 were set to 15133511

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GALNT3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

GALNT3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

GALNT3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

GALNT3 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GALNT3 was created by sleigh

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GALNT3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory