Genomics England

FLAD1

flavin adenine dinucleotide synthetase 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Green in Likely inborn error of metabolism 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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100