Genomics England
GMS Panels
Panels
Genes and Entities

PTCD3

pentatricopeptide repeat domain 3
OMIM: 614918
PanelMode of inheritanceDetails
3 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 51, OMIM:619057, combined oxidative phosphorylation deficiency 51, MONDO:0033631
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 51, OMIM:619057, combined oxidative phosphorylation deficiency 51, MONDO:0033631
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 51, OMIM:619057, combined oxidative phosphorylation deficiency 51, MONDO:0033631