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Genetic epilepsy syndromes

Gene: PRDM8

Red List (low evidence)

PRDM8 (PR/SET domain 8)
EnsemblGeneIds (GRCh38): ENSG00000152784
EnsemblGeneIds (GRCh37): ENSG00000152784
OMIM: 616639, Gene2Phenotype
PRDM8 is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

AR progressive myoclonic epilepsy 10. Turnbull et al 2012 - 3 sibs born to consanguineous parents - hom missense variant - segregated with disease in the family. In vitro cellular expression stidues suggest the mutation results in greater nuclear localisation ?GOF. No other reported variants.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Epilepsy, progressive myoclonic, 10, 616640

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epilepsy, progressive myoclonic, 10, 616640
OMIM
616639
Clinvar variants
Variants in PRDM8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PRDM8 was added gene: PRDM8 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: PRDM8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM8 were set to 22961547 Phenotypes for gene: PRDM8 were set to ?Epilepsy, progressive myoclonic, 10, 616640