Eye Anterior Segment Abnormalities

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

3 individuals with anterior segment dysgenesis and mono allelic variants in POMK identified. However, note variants are inherited with insufficient segregation evidence and/or present in gnomAD. Although there is supportive animal model evidence, note that biallelic POMK disease does comprise eye phenotypes.
Sources: Literature
Created: 3 Mar 2025, 5:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anterior segment dysgenesis, MONDO:0019503, POMK-related

Publications

History Filter Activity

3 Mar 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomk has been classified as Red List (Low Evidence).

3 Mar 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POMK was added gene: POMK was added to Eye Anterior Segment Abnormalities. Sources: Literature Mode of inheritance for gene: POMK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMK were set to 40011789 Phenotypes for gene: POMK were set to Anterior segment dysgenesis, MONDO:0019503, POMK-related Review for gene: POMK was set to RED