Cardiomyopathies - including childhood onsetGene: SLC25A20
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
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.
Carnitine acylcarnitines translocase deficiency CAT; Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; HCM, DCM
Carnitine-acylcarnitine translocase deficiency OMIM#212138
Created: 25 Mar 2019, 4:30 p.m.
Recommended by MetBio BP guidelines to test in paediatric cases of cardiomyopathy. https://omim.org/clinicalSynopsis/212138. OMIM: He had recurrent premature ventricular contractions, ventricular tachycardia, and hypotension. Subsequently, fasting during intercurrent illnesses provoked several episodes of coma, which responded to intravenous administration of glucose. At 30 months of age, the child had generalized weakness of skeletal muscles. Electrocardiogram showed mild ventricular hypertrophy and echocardiogram showed reduced ejection fraction.
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 NHS GMS was added to SLC25A20.
gene: SLC25A20 was added gene: SLC25A20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 27604308 Phenotypes for gene: SLC25A20 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)