Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Acute rhabdomyolysisR-numbers: R419 Signed-off version 1.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450 |
R-numbers: R451 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rhabdomyolysis, Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 |