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  3. GALNT2
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Fetal anomalies

Gene: GALNT2

Green List (high evidence)
GALNT2 (polypeptide N-acetylgalactosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000143641
EnsemblGeneIds (GRCh37): ENSG00000143641
OMIM: 602274, Gene2Phenotype
GALNT2 is in 6 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Created: 3 Mar 2022, 11:19 a.m.
Last Modified: 3 Mar 2022, 11:19 a.m.
Panel version: 1.836

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 1 Feb 2021, 12:29 p.m. | Last Modified: 1 Feb 2021, 12:29 p.m.
Panel Version: 1.396
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671).
Created: 1 Feb 2021, 12:27 p.m. | Last Modified: 1 Feb 2021, 12:27 p.m.
Panel Version: 1.393
Created: 1 Feb 2021, 12:27 p.m.
Last Modified: 1 Feb 2021, 12:27 p.m.
Panel version: 1.393

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Created: 29 Jan 2021, 9:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIt

Created: 29 Jan 2021, 9:46 a.m.

Panel version: 1.215

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIt OMIM:618885
OMIM
602274
Clinvar variants
Variants in GALNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: GALNT2.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GALNT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: galnt2 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation, type IIt to Congenital disorder of glycosylation, type IIt OMIM:618885

1 Feb 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GALNT2 were set to

1 Feb 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: GALNT2.

29 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: GALNT2 was added gene: GALNT2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt Review for gene: GALNT2 was set to GREEN