PDP1

pyruvate dehyrogenase phosphatase catalytic subunit 1
OMIM: 605993
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase phosphatase deficiency, 608782, Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase phosphatase deficiency, 608782
R-numbers: R63
Signed-off version 1.17
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