SLC25A20

solute carrier family 25 member 20
OMIM: 613698, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SLC25A20 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM# 212138 Tags treatable
Green SLC25A20 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM# 212138 Tags treatable
Green SLC25A20 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags treatable
Red SLC25A20 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM#212138
Green SLC25A20 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138
Green SLC25A20 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet South West GLH NHS GMS Phenotypes Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia Carnitine-acylcarnitine translocase deficiency 212138 Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Carnitine acylcarnitines translocase deficiency CAT HCM, DCM Tags treatable
Green SLC25A20 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency
Green SLC25A20 in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency 212138 Tags treatable
Amber SLC25A20 in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM#212138
Green SLC25A20 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM#212138 Tags treatable metabolic