Mitochondrial disease
Gene: ETHE1
ETHE1 (ETHE1, persulfide dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000105755
EnsemblGeneIds (GRCh37): ENSG00000105755
OMIM: 608451, Gene2Phenotype
ETHE1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000105755
EnsemblGeneIds (GRCh37): ENSG00000105755
OMIM: 608451, Gene2Phenotype
ETHE1 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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
- OMIM
- 608451
- Clinvar variants
- Variants in ETHE1
- Penetrance
- None
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Fatty Acid Oxidation Defects
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