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Cardiomyopathies - including childhood onset

Gene: SLC22A5

Green List (high evidence)

SLC22A5 (solute carrier family 22 member 5)
EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 16 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: MOI changed from monoallelic to both monoallelic and biallelic to reflect what is in the literature.
Created: 3 Dec 2019, 9:42 a.m. | Last Modified: 3 Dec 2019, 9:42 a.m.
Panel Version: 0.42
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)

Green List (high evidence)

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 transporter deficiency (primary carnitine deficiency); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; DCM; HCM, mixed

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)

Green List (high evidence)

Carnitine deficiency, systemic primary 212140
Created: 25 Mar 2019, 4:30 p.m.
Recommended by MetBio BP guidelines to test in paediatric cases of cardiomyopathy.https://omim.org/clinicalSynopsis/212140. Most cases on OMIM have some cardiac involvement including HCM: Chapoy et al. (1980) reported a 3.5-year-old boy who presented at age 3 months with an acute episode of lethargy, somnolence, hypoglycemia, hepatomegaly, and cardiomegaly. He had hypoketotic hypoglycemia associated with decreased carnitine in plasma, muscle, and liver (all less than 5% of normal values). Prolonged treatment with oral carnitine over a 6-month period resulted in increased muscle strength, a dramatic reduction in cardiac size, relief of cardiomyopathy, partial repletion of carnitine levels in plasma and muscle, and complete repletion in the liver.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • South West GLH
  • Expert Review Green
Phenotypes
  • DCM
  • Propionicacidemia
  • Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
  • Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia
  • HCM, mixed
  • Carnitine transporter deficiency (primary carnitine deficiency)
OMIM
603377
Clinvar variants
Variants in SLC22A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC22A5.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: SLC22A5 was added gene: SLC22A5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC22A5 were set to 24816252; 27604308 Phenotypes for gene: SLC22A5 were set to DCM; Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; HCM, mixed; Carnitine transporter deficiency (primary carnitine deficiency)