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Retinal disorders

Gene: POMGNT1

Amber List (moderate evidence)

POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 21 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5

History Filter Activity

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: POMGNT1 was added gene: POMGNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: POMGNT1 was set to