Genomics England

PCCB

propionyl-CoA carboxylase beta subunit

OMIM: 232050

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PROPIONIC ACIDEMIA 606054
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Propionicacidemia 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 Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Propionicacidemia 606054
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PROPIONIC ACIDEMIA
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 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 8.4	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)