Previous cardiomyopathies - including childhood onset
Gene: SLC22A5Comment on mode of inheritance: The mode of inheritance should be changed from Monoallelic to Biallelic, as there is no published evidence for monoallelic inheritance of conditions associated with variants in SLC22A5 (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen).Created: 1 Aug 2023, 12:45 p.m. | Last Modified: 1 Aug 2023, 12:58 p.m.
Panel Version: 1.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Source MetBioNet was added to SLC22A5. Added phenotypes Carnitine transporter deficiency (primary carnitine deficiency); HCM, mixed; DCM; Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia for gene: SLC22A5
Source South West GLH was added to SLC22A5. Mode of inheritance for gene SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eleanor Williams: Comment on publications: Addin
gene: SLC22A5 was added gene: SLC22A5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 27604308; 24816252 Phenotypes for gene: SLC22A5 were set to Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Propionicacidemia