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Cataracts

Gene: POMK

Red List (low evidence)

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 13 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, 4:30 p.m.

Details

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

Created

Ellen McDonagh (Genomics England Curator)

POMK was created by ellenmcdonagh

27 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POMK was added to Cataractspanel. Sources: Other