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Intellectual disability syndromic and non-syndromic

Gene: POMK

Green List (high evidence)

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID is part of the phenotype.
Created: 8 Dec 2019, 11:32 p.m. | Last Modified: 8 Dec 2019, 11:32 p.m.
Panel Version: 0.983
ID is part of the phenotype.
Created: 8 Dec 2019, 11:29 p.m. | Last Modified: 8 Dec 2019, 11:29 p.m.
Panel Version: 0.981

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

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

History Filter Activity

8 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomk has been classified as Green List (High Evidence).

8 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249

8 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POMK was added gene: POMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMK was set to Unknown