Paediatric or syndromic cardiomyopathy
Gene: SLC25A20EnsemblGeneIds (GRCh38): ENSG00000178537
EnsemblGeneIds (GRCh37): ENSG00000178537
OMIM: 613698, Gene2Phenotype
SLC25A20 is in 10 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
Carnitine acylcarnitines translocase deficiency CAT; Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; HCM, DCM
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)
Carnitine-acylcarnitine translocase deficiency OMIM#212138Created: 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
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
-
- 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)
- OMIM
- 613698
- Clinvar variants
- Variants in SLC25A20
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Hyperammonaemia
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SLC25A20.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)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)