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Genetic Epilepsy

Gene: PPP2R5D

Green List (high evidence)

PPP2R5D (protein phosphatase 2 regulatory subunit B'delta)
EnsemblGeneIds (GRCh38): ENSG00000112640
EnsemblGeneIds (GRCh37): ENSG00000112640
OMIM: 601646, Gene2Phenotype
PPP2R5D is in 10 panels

1 review

Chris Ciotta (Victorian Clinical Genetics Services)

Green List (high evidence)

- PMID: 26168268, 3/11 individuals presented with epilepsy, 2 individuals had the well reported pathogenic Glu198Lys variant while the third also had a well reported pathogenic Glu200Lys variant.

- PMID: 29296277, epilepsy in 2/2 individuals in this paper with variants in PPP2R5D, they both had the Glu198Lys variant.

- PMID:26576547, 1/7 individuals with variants in PPP2R5D presented with complex partial seizures, the variant was the Glu198Lys.
Created: 5 Jan 2024, 4:22 a.m. | Last Modified: 5 Jan 2024, 4:22 a.m.
Panel Version: 0.2149

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Houge-Janssens syndrome 1 MIM#616355

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Houge-Janssens syndrome 1 MIM#616355
OMIM
601646
Clinvar variants
Variants in PPP2R5D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5d has been classified as Green List (High Evidence).

13 Feb 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPP2R5D were set to

13 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5d has been classified as Green List (High Evidence).

5 Jan 2024, Gel status: 0

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

Chris Ciotta (Victorian Clinical Genetics Services)

gene: PPP2R5D was added gene: PPP2R5D was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPP2R5D were set to Houge-Janssens syndrome 1 MIM#616355 Review for gene: PPP2R5D was set to GREEN