Hyperammonaemia
Gene: ETFDH
ETFDH (electron transfer flavoprotein dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric aciduria type II ETFDH deficiency
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least eight variants reported.Created: 21 Nov 2016, 3:59 p.m.
Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)Created: 21 Nov 2016, 3:38 p.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Glutaric acidemia IIC 231680
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Acute rhabdomyolysis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Intellectual disability
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Inherited white matter disorders
- Hyperammonaemia
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
History Filter Activity
22 Nov 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
21 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Nov 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ETFDH were set to Glutaric acidemia IIC 231680
21 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
3 Nov 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ETFDH were set to Glutaric acidemia IIC 231680
3 Nov 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ETFDH was changed to BIALLELIC, autosomal or pseudoautosomal
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ETFDH was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory