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Mitochondrial disease

Gene: ETHE1

Green List (high evidence)

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.
Created: 27 Oct 2021, 4:40 a.m. | Last Modified: 27 Oct 2021, 4:40 a.m.
Panel Version: 0.9502

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ethylmalonic encephalopathy , MIM#602473

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
treatable
OMIM
608451
Clinvar variants
Variants in ETHE1
Penetrance
None
Panels with this gene

History Filter Activity

12 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ETHE1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETHE1 was added gene: ETHE1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: ETHE1 was set to Unknown