| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PYRUVATE CARBOXYLASE DEFICIENCY 266150 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate carboxylase deficiency (Disorders of gluconeogenesis), lactic acidosis, hypotonia, encephalopathy, Pyruvate carboxylase deficiency 266150, Pyruvate carboxylase deficiency |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate carboxylase deficiency, 266150, PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate carboxylase deficiency |
R-numbers: R63 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate carboxylase deficiency, 266150 |