Paediatric or syndromic cardiomyopathy
Gene: SLC22A5Comment on mode of inheritance: Changing the mode of inheritance back to Both monoallelic and biallelic as this is what it is on the last signed off version of the panel (v3.0) and no change in mode of inheritance has been agreed. Also adding a tag to propose that the mode of inheritance should be changed to biallelic as proposed by Sarah Leigh.Created: 16 Oct 2023, 8:56 p.m. | Last Modified: 16 Oct 2023, 8:56 p.m.
Panel Version: 3.39
The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).Created: 1 Aug 2023, 2:09 p.m. | Last Modified: 8 Aug 2023, 9:40 a.m.
Panel Version: 3.23
Comment on mode of inheritance: The mode of inheritance should be change from monoallelic to biallelic at the next major review of the panel.Created: 1 Aug 2023, 12:48 p.m. | Last Modified: 1 Aug 2023, 12:48 p.m.
Panel Version: 3.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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
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
Carnitine deficiency, systemic primary 212140Created: 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
Tag Q4_23_MOI tag was added to gene: SLC22A5.
Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were changed from 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) to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Tag Q3_23_MOI was removed from gene: SLC22A5.
Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_23_MOI tag was added to gene: SLC22A5.
Publications for gene: SLC22A5 were set to 24816252; 27604308
Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to SLC22A5.
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)