Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
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 Pyruvate dehydrogenase phosphatase deficiency, 608782, Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 |