Mitochondrial disease
Gene: ETHE1
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
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
Tag treatable tag was added to gene: ETHE1.
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