Arthrogryposis
Gene: ETFBEnsemblGeneIds (GRCh38): ENSG00000105379
EnsemblGeneIds (GRCh37): ENSG00000105379
OMIM: 130410, Gene2Phenotype
ETFB is in 13 panels
1 review
Alice Gardham (Genomics England)
No known association with arthrogryposisCreated: 4 Jan 2017, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIB 231680
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Glutaric acidemia IIB 231680
- OMIM
- 130410
- Clinvar variants
- Variants in ETFB
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Hyperammonaemia
- Arthrogryposis
- Acute rhabdomyolysis
- Mitochondrial disorders
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for ETFB were set to Glutaric acidemia IIB 231680
Added New Source
Ellen McDonagh (Genomics England Curator)ETFB was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)ETFB was created by ellenmcdonagh