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Intellectual disability syndromic and non-syndromic

Gene: PHKA2

Red List (low evidence)

PHKA2 (phosphorylase kinase regulatory subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000044446
EnsemblGeneIds (GRCh37): ENSG00000044446
OMIM: 300798, Gene2Phenotype
PHKA2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype.
Created: 8 Dec 2019, 8:49 p.m. | Last Modified: 8 Dec 2019, 8:49 p.m.
Panel Version: 0.954

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Glycogen storage disease, type IXa1, MIM#306000

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Glycogen storage disease, type IXa1, MIM#306000
OMIM
300798
Clinvar variants
Variants in PHKA2
Penetrance
None
Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phka2 has been classified as Red List (Low Evidence).

8 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHKA2 were changed from to Glycogen storage disease, type IXa1, MIM#306000

8 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PHKA2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phka2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHKA2 was added gene: PHKA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHKA2 was set to Unknown