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Intellectual disability

Gene: POMK

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Sufficient cases to support causation; however, ID is unlikely to be the main presenting feature of this phenotype - therefore, rating Amber on this panel.

POMK is rated Green on other relevant panels including Congenital muscular dystrophy, Hydrocephalus, and Arthrogryposis.
Created: 19 Aug 2020, 4:06 p.m. | Last Modified: 19 Aug 2020, 4:06 p.m.
Panel Version: 3.258

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: POMK were set to

19 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pomk has been classified as Amber List (Moderate Evidence).

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