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Prepair 1000+

Gene: ETHE1

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

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. Biallelic pathogenic variants in ETHE1 are an established cause of ethylmalonic encephalopathy.

Well established gene-disease association. Onset in infancy.
Created: 15 Oct 2024, 5:39 a.m. | Last Modified: 15 Oct 2024, 5:39 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ethylmalonic encephalopathy, MIM#602473

Publications

Created: 15 Oct 2024, 5:39 a.m.
Last Modified: 15 Oct 2024, 5:39 a.m.
Panel version: 1.420

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: ethe1 has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ETHE1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Ethylmalonic encephalopathy, 602473 (3) for gene: ETHE1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETHE1 was added gene: ETHE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)