Genomics England
GMS Panels
Panels
Genes and Entities

PCCB

propionyl-CoA carboxylase beta subunit
OMIM: 232050
PanelMode of inheritanceDetails
6 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Propionicacidemia 606054
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PROPIONIC ACIDEMIA 606054
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
Propionicacidemia 606054
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PROPIONIC ACIDEMIA
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
as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections), Propionic acidemia, Propionicacidemia 606054, Propionicacidemia, Propionic aciduria (Organic acidurias)
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections), DCM, Hypertrophic-hypocontractile cardiomyopathy, Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap, Propionicacidemia, Propionic aciduria, Propionicacidemia 606054, Propionic acidemia, Propionic aciduria (Organic acidurias)