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  3. SLC25A20
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Cardiomyopathy_Paediatric

Gene: SLC25A20

Green List (high evidence)
SLC25A20 (solute carrier family 25 member 20)
EnsemblGeneIds (GRCh38): ENSG00000178537
EnsemblGeneIds (GRCh37): ENSG00000178537
OMIM: 613698, Gene2Phenotype
SLC25A20 is in 10 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
  • NHS GMS
Phenotypes
  • Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia
  • Carnitine-acylcarnitine translocase deficiency 212138
  • Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
  • Carnitine acylcarnitines translocase deficiency CAT
  • HCM, DCM
Tags
treatable
OMIM
613698
Clinvar variants
Variants in SLC25A20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: SLC25A20.

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A20 was added gene: SLC25A20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green 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 acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM