Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210, 3-METHYLCROTONYL-COA CARBOXYLASE 2 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 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 |