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Genetic Epilepsy

Gene: USP25

Green List (high evidence)

USP25 (ubiquitin specific peptidase 25)
EnsemblGeneIds (GRCh38): ENSG00000155313
EnsemblGeneIds (GRCh37): ENSG00000155313
OMIM: 604736, Gene2Phenotype
USP25 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 38875478 5 heterozygous variants were identified in 8 individuals from 5 unrelated families all with clinical phenotypes associated with generalised epilepsy. Knock-out mouse model showed increased seizure susceptibility compared to the WT. Both loss of function and gain of function variants can be a mechanism of disease in individuals with USP25-related epilepsy.
Sources: Literature
Created: 3 Jul 2024, 11:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064
OMIM
604736
Clinvar variants
Variants in USP25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USP25 were changed from Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related to {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usp25 has been classified as Green List (High Evidence).

3 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usp25 has been classified as Green List (High Evidence).

3 Jul 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USP25 was added gene: USP25 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: USP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: USP25 were set to 38875478 Phenotypes for gene: USP25 were set to Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related Review for gene: USP25 was set to GREEN