Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HMG-CoA lyase deficiency, OMIM:246450, 3-hydroxy-3-methylglutaric aciduria, MONDO:0009520 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | 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 4.134 | 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 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HMG-CoA lyase deficiency, 246450, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMGCLD, Intellectual disability |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | 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 |