SLC22A5

solute carrier family 22 member 5
OMIM: 603377, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SLC22A5 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Red SLC22A5 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	Not set	Sources Other Phenotypes Crohn disease
Green SLC22A5 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Red SLC22A5 in Short QT syndrome Level 2: Cardiology Version 3.16 Latest signed off version: v3.14 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red West Midlands, Oxford and Wessex GLH South West GLH London South GLH Literature Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Red SLC22A5 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Expert list
Green SLC22A5 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Green SLC22A5 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Red SLC22A5 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Amber SLC22A5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Green SLC22A5 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140
Red SLC22A5 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Green SLC22A5 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Green SLC22A5 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH MetBioNet Expert Review Green MetBioNet South West GLH Expert Review Green Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919
Red SLC22A5 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green SLC22A5 in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919