Likely inborn error of metabolism - targeted testing not possible
Gene: ETFA
Comment on phenotypes: Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation);Glutaric acidemia IIACreated: 30 May 2023, 12:52 p.m. | Last Modified: 30 May 2023, 12:52 p.m.
Panel Version: 4.39
Comment on phenotypes: Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation)Created: 30 May 2023, 12:50 p.m. | Last Modified: 30 May 2023, 12:50 p.m.
Panel Version: 4.38
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, 12:49 p.m. | Last Modified: 30 May 2023, 12:49 p.m.
Panel Version: 4.37
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
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Publications
Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Phenotypes for gene: ETFA were changed from Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIA to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Publications for gene: ETFA were set to 27604308
Source: Expert Review Red was removed from gene: ETFA
Source NHS GMS was added to ETFA. Source London North GLH was added to ETFA.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: ETFA was added gene: ETFA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 27604308 Phenotypes for gene: ETFA were set to Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIA