Genomics England

PCCB

propionyl-CoA carboxylase beta subunit

OMIM: 232050

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Cardiomyopathies - including childhood onset R-numbers: R135 Signed-off version 2.2	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)
Green in Childhood onset dystonia or chorea or related movement disorder R-numbers: R57 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Propionicacidemia 606054
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PROPIONIC ACIDEMIA 606054
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Propionicacidemia 606054
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	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 Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PROPIONIC ACIDEMIA