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Fetal anomalies

Gene: ETHE1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Presentation is typically post-natal.
Created: 18 Nov 2021, 6:52 a.m. | Last Modified: 18 Nov 2021, 6:52 a.m.
Panel Version: 0.549

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ethylmalonic encephalopathy, MIM# 602473

History Filter Activity

18 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ethe1 has been classified as Red List (Low Evidence).

18 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ETHE1 were changed from ETHYLMALONIC ENCEPHALOPATHY to Ethylmalonic encephalopathy, MIM# 602473

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY