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This Panel is marked as Internal

Newborns main panel
Gene: GALNT3

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

https://pubmed.ncbi.nlm.nih.gov/27867679/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Tumoral calcinosis, hyperphosphatemic, familial, 1

OMIM

Clinvar variants

Variants in GALNT3

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1 for gene: GALNT3

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GALNT3. Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1 for gene: GALNT3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GALNT3. Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1 for gene: GALNT3 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to GALNT3. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1 for gene: GALNT3

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GALNT3 was added gene: GALNT3 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal