Genomics England
GMS Panels
Panels
Genes and Entities

PDP1

pyruvate dehyrogenase phosphatase catalytic subunit 1
OMIM: 605993
PanelMode of inheritanceDetails
4 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase phosphatase deficiency, 608782, Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
Signed-off version 10.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase phosphatase deficiency, 608782
Green
in Possible mitochondrial disorder, nuclear genes
R-numbers: R63
Signed-off version 5.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Green
in Pyruvate dehydrogenase (PDH) deficiency
R-numbers: R316
Signed-off version 1.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782, pyruvate dehydrogenase phosphatase deficiency MONDO:0012120