Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HMG-CoA lyase deficiency, 246450, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMGCLD |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HMG-CoA lyase deficiency, 246450, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMGCLD, Intellectual disability |
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 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias), 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMG-CoA lyase deficiency, 246450, HMGCLD |