| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ETHYLMALONIC ENCEPHALOPATHY 602473 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ethylmalonic encephalopathy, 602473 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ethylmalonic encephalopathy, 602473, ETHYLMALONIC ENCEPHALOPATHY |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ethylmalonic encephalopathy, 602473, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Isolated complex IV deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Ethylmalonic encephalopathy |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex IV deficiency, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Ethylmalonic encephalopathy, 602473, Ethylmalonic encephalopathy |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ethylmalonic encephalopathy, 602473 |