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  2. Genetic Epilepsy
  3. PRDM8
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Genetic Epilepsy

Gene: PRDM8

Red List (low evidence)
PRDM8 (PR/SET domain 8)
EnsemblGeneIds (GRCh38): ENSG00000152784
EnsemblGeneIds (GRCh37): ENSG00000152784
OMIM: 616639, Gene2Phenotype
PRDM8 is in 3 panels

1 review

Chris Ciotta (Victorian Clinical Genetics Services)

Red List (low evidence)

- PMID:22961547, 3 individuals from one family, all with myoclonic epilepsy, all had the Phe261Leu variant. This variant is absent from gnomAD V4.

- PMID: 35034233, Two individuals from one family, no clinical seizures but presented with myoclonus and abnormal EEG (generalised epileptiform charges), these individuals had the Ala230Gly missense change, which has currently been reported as a VUS.
Sources: Literature
Created: 5 Jan 2024, 4:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Epilepsy, progressive myoclonic, 10 MIM#616640

Publications

Created: 5 Jan 2024, 4:50 a.m.

Panel version: 0.2149

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Epilepsy, progressive myoclonic, 10 MIM#616640
OMIM
616639
Clinvar variants
Variants in PRDM8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm8 has been classified as Red List (Low Evidence).

13 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm8 has been classified as Red List (Low Evidence).

13 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm8 has been classified as Red List (Low Evidence).

5 Jan 2024, Gel status: 0

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

Chris Ciotta (Victorian Clinical Genetics Services)

gene: PRDM8 was added gene: PRDM8 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PRDM8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM8 were set to PMID: 2296154; 35034233 Phenotypes for gene: PRDM8 were set to ?Epilepsy, progressive myoclonic, 10 MIM#616640 Review for gene: PRDM8 was set to RED