Previous cardiomyopathies - including childhood onset
Gene: PCCB
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
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
Source MetBioNet was added to PCCB. Added phenotypes Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria; Hypertrophic-hypocontractile cardiomyopathy for gene: PCCB
Source South West GLH was added to PCCB.
Eleanor Williams: Comment on publications: Addin
gene: PCCB was added gene: PCCB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green 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); Propionic acidemia; Propionic aciduria (Organic acidurias); Propionicacidemia 606054; Propionicacidemia