Rhabdomyolysis and metabolic muscle disorders

Gene: ETFA

Green List (high evidence)

ETFA (electron transfer flavoprotein alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000140374
EnsemblGeneIds (GRCh37): ENSG00000140374
OMIM: 608053, Gene2Phenotype
ETFA is in 14 panels

1 review

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 5 variants reported in more than six cases.
Created: 2 Dec 2016, 11:18 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glutaric acidemia IIA 231680
OMIM
608053
Clinvar variants
Variants in ETFA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA 231680 to Glutaric acidemia IIA 231680

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

2 Dec 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).

1 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ETFA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ETFA was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ETFA were set to Glutaric acidemia IIA 231680

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ETFA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ETFA was created by sleigh