SLC25A20

solute carrier family 25 member 20
OMIM: 613698, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SLC25A20 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Carnitine-acylcarnitine translocase deficiency 212138
Green SLC25A20 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Carnitine-acylcarnitine translocase deficiency 212138
Green SLC25A20 in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 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-acylcarnitine translocase deficiency 212138 Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Red SLC25A20 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Carnitine-acylcarnitine translocase deficiency, 212138
Green SLC25A20 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Green SLC25A20 in DDG2P Version 6.426 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 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138
Red SLC25A20 in Intellectual disability Level 2: Developmental disorders Version 9.318 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-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Green SLC25A20 in Mitochondrial disorders Level 2: Mitochondrial Version 9.46 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-acylcarnitine translocase deficiency, OMIM:212138 carnitine-acylcarnitine translocase deficiency, MONDO:0008918
Green SLC25A20 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 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 Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia Carnitine-acylcarnitine translocase deficiency 212138 Carnitine acylcarnitines translocase deficiency CAT HCM, DCM Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Red SLC25A20 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH