Paediatric or syndromic cardiomyopathy
Gene: PCCBEnsemblGeneIds (GRCh38): ENSG00000114054
EnsemblGeneIds (GRCh37): ENSG00000114054
OMIM: 232050, Gene2Phenotype
PCCB is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Ellen McDonagh (Genomics England Curator)
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 18 Apr 2019, 11:53 a.m.
Phenotypes
Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Hypertrophic-hypocontractile cardiomyopathy
Publications
- National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Rebecca Whittington (South West GLH)
Propionicacidemia OMIM#606054Created: 25 Mar 2019, 4:30 p.m.
Cardiomyopathy is not a common feature of this disorder, but in one study 5/55 cases reported cardiomyopathy. Bowron & Olpin (2012). MetBioNet Best Practice Guidelines: Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net) Lee J Inherit Metab Dis. 2009 December ; 32(0 1): S97101: reported late onset isolated cardiomyopathy in a 14 year old with this condition.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- MetBioNet
- Expert Review Green
- MetBioNet
- South West GLH
- Expert Review Green
- 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)
- OMIM
- 232050
- Clinvar variants
- Variants in PCCB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Ketotic hypoglycaemia
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Hyperammonaemia
- Fetal anomalies
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PCCB.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PCCB was added gene: PCCB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 27604308 Phenotypes for gene: PCCB were set to 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)