SLC22A5

solute carrier family 22 member 5
OMIM: 603377, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green SLC22A5 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine deficiency, systemic primary, MIM# 212140 Tags treatable
Red SLC22A5 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Carnitine deficiency, systemic primary, MIM# 212140
Green SLC22A5 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 Tags treatable
Red SLC22A5 in Short QT syndrome Level 2: Cardiovascular disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Short QT syndrome Tags disputed
Red SLC22A5 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intractable epilepsy
Green SLC22A5 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Carnitine deficiency, systemic primary MIM#212140 Tags treatable
Green SLC22A5 in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Carnitine deficiency, systemic primary, MIM# 212140
Red SLC22A5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Carnitine deficiency, systemic primary, MIM#212140
Green SLC22A5 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Phenotypes Carnitine deficiency, systemic primary 212140 Tags treatable
Green SLC22A5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carnitine deficiency, systemic primary, 212140 (3)
Green SLC22A5 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet South West GLH NHS GMS Phenotypes Carnitine deficiency, systemic primary MIM#212140 Tags treatable
Green SLC22A5 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carnitine deficiency, systemic primary
Green SLC22A5 in Hyperammonaemia Level 2: Metabolic disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Propionicacidemia 606054
Red SLC22A5 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Carnitine deficiency, systemic primary, MIM#212140
Green SLC22A5 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Green SLC22A5 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 Tags treatable metabolic
Green SLC22A5 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919