Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism), Pyruvate dehydrogenase E1-beta deficiency, 614111 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate dehydrogenase E1-beta deficiency, 614111 |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 |