Cerebral Palsy
Gene: PHKA2EnsemblGeneIds (GRCh38): ENSG00000044446
EnsemblGeneIds (GRCh37): ENSG00000044446
OMIM: 300798, Gene2Phenotype
PHKA2 is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo hemizygous variant described in WGS study of clinically confirmed CP (PMID: 38553553). Variant has multiple entries in ClinVar - pathogenic/likely pathogenic. GSD9A is primarily associated with liver dysfunction, however dysregulation of glucose metabolism can cause damage to the CNS.
Sources: LiteratureCreated: 27 Jun 2024, 4:23 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Glycogen storage disease, type IXa, 306000
Publications
- PMID: 38553553
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Glycogen storage disease, type IXa, 306000
- OMIM
- 300798
- Clinvar variants
- Variants in PHKA2
- Penetrance
- None
- Publications
-
- PMID: 38553553
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: phka2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: phka2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PHKA2 was added gene: PHKA2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA2 were set to PMID: 38553553 Phenotypes for gene: PHKA2 were set to Glycogen storage disease, type IXa, 306000 Review for gene: PHKA2 was set to RED