Genomics England

ETFB

electron transfer flavoprotein beta subunit

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIB, OMIM:231680, multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIB, OMIM:231680, multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIB, OMIM:231680, multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIB, OMIM:231680, multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIB, OMIM:231680, multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.39	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIB, OMIM:231680, multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282