Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: POMK

No list

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 13 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

ID is part of the phenotype.
Sources: Expert list
Created: 13 Feb 2020, 7:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

13 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: POMK was added gene: POMK was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249 Review for gene: POMK was set to GREEN gene: POMK was marked as current diagnostic