Cataracts

Gene: POMGNT1

Red List (low evidence)

POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.
Created: 27 Jun 2016, 4:28 p.m.

History Filter Activity

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

27 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POMGNT1 was added to Cataractspanel. Sources: Other

27 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POMGNT1 was created by ellenmcdonagh