Structural basal ganglia disorders
Gene: ETHE1
ETHE1 (ETHE1, persulfide dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000105755
EnsemblGeneIds (GRCh37): ENSG00000105755
OMIM: 608451, Gene2Phenotype
ETHE1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000105755
EnsemblGeneIds (GRCh37): ENSG00000105755
OMIM: 608451, Gene2Phenotype
ETHE1 is in 11 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At 8 least variants reported.Created: 2 Mar 2017, 1:33 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 2 Mar 2016, 11:52 a.m.
Comment on list classification: Promoted from red to green, as it has a green rating from an expert and is a confirmed DD gene for ethylmalonic encephalopathy.Created: 2 Mar 2016, 11:52 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ethylmalonic encephalopathy 602473
- OMIM
- 608451
- Clinvar variants
- Variants in ETHE1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
2 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 Mar 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ETHE1 were set to Ethylmalonic encephalopathy 602473
2 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)ETHE1 was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)ETHE1 was created by Manju