Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600, LEIGH SYNDROME 256000 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900, DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism), Leigh syndrome, Dihydrolipoamide dehydrogenase deficiency, 246900 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900, Leigh syndrome |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 |