1. Panels
  2. Structural eye disease
  3. POMGNT2
Genes in panel
Prev Next
STRs in panel
Prev Next

Structural eye disease

Gene: POMGNT2

Amber List (moderate 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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Manzini reported homozygous nonsense variant in one family with Walker-Warburg syndrome and microphthalmia
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

History Filter Activity

1 Oct 2019, Gel status: 2

Added New Source, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to POMGNT2. Publications for gene POMGNT2 were changed from to 22958903

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to POMGNT2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: POMGNT2 was added gene: POMGNT2 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT2 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8, 614830