Mitochondrial disorders
Gene: ETFA
The enzyme encoded by this gene is required for electron transfer to the main respiratory chain. >3 cases reported. Very similar phenotypes to ETFB and ETFDH, we note ETFDH is Green.Created: 19 Mar 2020, 10:14 a.m. | Last Modified: 19 Mar 2020, 10:14 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIA MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Publications
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.Created: 11 Oct 2023, 9:52 a.m. | Last Modified: 11 Oct 2023, 9:52 a.m.
Panel Version: 4.95
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 30 May 2023, 12:43 p.m. | Last Modified: 30 May 2023, 12:43 p.m.
Panel Version: 4.43
Associated with phenotype in OMIM and as a definitive Developmental Disorder Gene / G2P. At least five ETFA variants have been reported, two in homozygous and compound heterozygous cases and three as compound heterozygotes (at least eight unrelated cases).Created: 30 May 2023, 12:42 p.m. | Last Modified: 30 May 2023, 12:46 p.m.
Panel Version: 4.43
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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q2_23_promote_green was removed from gene: ETFA.
Tag Q2_23_promote_green tag was added to gene: ETFA.
Gene: etfa has been classified as Amber List (Moderate Evidence).
Publications for gene: ETFA were set to 1882842; 12815589
Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA ,231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Publications for gene: ETFA were set to
gene: ETFA was added gene: ETFA was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFA were set to Glutaric acidemia IIA ,231680