Possible mitochondrial disorder - nuclear genes
Gene: ETFB
ETFB (electron transfer flavoprotein beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000105379
EnsemblGeneIds (GRCh37): ENSG00000105379
OMIM: 130410, Gene2Phenotype
ETFB is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000105379
EnsemblGeneIds (GRCh37): ENSG00000105379
OMIM: 130410, Gene2Phenotype
ETFB is in 13 panels
1 review
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIB ,231680
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Glutaric acidemia IIB ,231680
- OMIM
- 130410
- Clinvar variants
- Variants in ETFB
- Penetrance
- None
- Panels with this gene
-
- Hyperammonaemia
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- DDG2P
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Acute rhabdomyolysis
- Rhabdomyolysis and metabolic muscle disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Arthrogryposis
History Filter Activity
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ETFB was added gene: ETFB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to Glutaric acidemia IIB ,231680