Genetic Epilepsy
Gene: ETHE1

ETHE1 (ETHE1, persulfide dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000105755
EnsemblGeneIds (GRCh37): ENSG00000105755
OMIM: 608451, Gene2Phenotype
ETHE1 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe metabolic disorder characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.

Multiple families reported.
Created: 27 Oct 2021, 4:42 a.m. | Last Modified: 27 Oct 2021, 4:42 a.m.

Panel Version: 0.1365

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ethylmalonic encephalopathy , MIM#602473

Publications

Created: 27 Oct 2021, 4:42 a.m.
Last Modified: 27 Oct 2021, 4:42 a.m.
Panel version: 0.1365

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic pathogenic variants in ETHE1 are an established cause of ethylmalonic encephalopathy. PTCs, missense and splice variants have all been reported as pathogenic/likely pathogenic in ClinVar. Fibroblasts from patients with missense variants had no detectable ETHE1 protein on western blot (PMID: 14732903).
Created: 27 Oct 2021, 12:02 a.m. | Last Modified: 27 Oct 2021, 12:02 a.m.

Panel Version: 0.9488

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ethylmalonic encephalopathy

Publications

Created: 27 Oct 2021, 12:02 a.m.
Last Modified: 27 Oct 2021, 12:02 a.m.
Panel version: Imported from Mendeliome panel version 0.9488

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Ethylmalonic encephalopathy , MIM#602473

Tags

treatable

OMIM

608451

Clinvar variants

Variants in ETHE1

Penetrance

None

Publications

Panels with this gene