Molecular autopsy
Gene: SLC22A5Comment on mode of inheritance: The mode of inheritance is being 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, 12:44 p.m. | Last Modified: 1 Aug 2023, 12:44 p.m.
Panel Version: 0.111
Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes arrhythmia; cardiomyopathy; short QT; Carnitine deficiency, systemic primary 212140; primary carnitine deficiency for gene: SLC22A5 Publications for gene SLC22A5 were changed from 27604308; 24816252 to 7254270; 29198778; 26190315; 7131143
Added phenotypes Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Propionicacidemia for gene: SLC22A5
gene: SLC22A5 was added gene: SLC22A5 was added to Molecular autopsy. 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 Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)