Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: POMGNT1

Green List (high 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

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four families reported with isolated RP and bi-allelic variants in this gene.
Created: 13 Oct 2020, 7:44 a.m. | Last Modified: 13 Oct 2020, 7:44 a.m.
Panel Version: 2.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 76, MIM#617123

Publications

Ivone Leong (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Created: 27 Jan 2021, 10:30 a.m. | Last Modified: 27 Jan 2021, 10:30 a.m.
Panel Version: 2.133
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

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: POMGNT1.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to POMGNT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

27 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: POMGNT1.

27 Jan 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: POMGNT1 were set to

27 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: POMGNT1 were changed from to Retinitis pigmentosa 76, OMIM:617123, MONDO:0014929

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