Likely inborn error of metabolism - targeted testing not possible
Gene: ETFB
Comment on phenotypes: Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)Created: 30 May 2023, 2:33 p.m. | Last Modified: 30 May 2023, 2:33 p.m.
Panel Version: 4.40
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
Publications for gene: ETFB were set to 27604308
Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Source: Expert Review Red was removed from gene: ETFB
Source NHS GMS was added to ETFB. Source London North GLH was added to ETFB.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: ETFB was added gene: ETFB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 27604308 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)