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  3. POMGNT2
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Arthrogryposis

Gene: POMGNT2

Green List (high evidence)
POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-))
EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 17 panels

3 reviews

Alice Gardham (Genomics England)

Created: 4 Jan 2017, 12:12 p.m.

Panel version: 1.154

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review, and further curation. It is a confirmed DD gene for Walker-Warburg syndrome, and 3 reports in OMIM.
Created: 19 Dec 2016, 1:14 p.m.
Created: 19 Dec 2016, 1:14 p.m.

Panel version: Imported from "Congenital muscular dystrophy" panel version 0.9

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type

Created: 19 Dec 2016, 11:47 a.m.

Panel version: Imported from "Congenital muscular dystrophy" panel version 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, MONDO:0013904
  • Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, OMIM:618135
  • muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8, MONDO:0029135
OMIM
614828
Clinvar variants
Variants in POMGNT2
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Jun 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, MONDO:0013904; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, OMIM:618135; muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8, MONDO:0029135

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

9 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POMGNT2 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,,Expert Review Green

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POMGNT2 was created by ellenmcdonagh