Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Acute rhabdomyolysisR-numbers: R419 Signed-off version 1.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Multiple acyl-CoA dehydrogenase deficiencies (MADDs) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Multiple acyl-CoA dehydrogenase deficiencies (MADDs) |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 |
Component of the following Super Panels:
Signed-off version 3.39 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 |