Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ETFDHEnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:26 p.m. | Last Modified: 28 Nov 2019, 5:26 p.m.
Panel Version: 1.173
Chiara Marini Bettolo (NUTH)
Glutaric acidemia. Variable phenotype. Severe in infants. Early teens to adults present with proximal muscle weakness, cramps, rasied CK and vacuolar myopathy.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Ana Topf (John Walton Muscular Dystrophy Research Centre)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIC, 231680; Glutaric acidemia IIA, 231680; Glutaric acidemia IIB, 231680
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
- Phenotypes
-
- Glutaric acidemia IIC, 231680
- Glutaric acidemia IIA, 231680
- Glutaric acidemia IIB, 231680
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- Arthrogryposis
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Acute rhabdomyolysis
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: etfdh has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: etfdh has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ETFDH.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ETFDH.
Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glutaric acidemia IIC, 231680; Glutaric acidemia IIA, 231680; Glutaric acidemia IIB, 231680 for gene: ETFDH Publications for gene ETFDH were changed from to 17412732
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ETFDH was added gene: ETFDH was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ETFDH was set to