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  3. ETHE1
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Callosome

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)

Structural brain abnormalities are not typically seen in this condition.
Created: 27 Oct 2021, 4:48 a.m. | Last Modified: 27 Oct 2021, 4:48 a.m.
Panel Version: 0.330

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ethylmalonic encephalopathy , MIM#602473

Publications

Created: 27 Oct 2021, 4:48 a.m.
Last Modified: 27 Oct 2021, 4:48 a.m.
Panel version: 0.330

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ethylmalonic encephalopathy , MIM#602473
OMIM
608451
Clinvar variants
Variants in ETHE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 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).

27 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ETHE1 were set to

27 Oct 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Oct 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).

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 Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ETHE1 was set to Unknown