SLC25A13

solute carrier family 25 member 13
OMIM: 603859, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SLC25A13 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Citrullinemia, adult-onset type II 603471
Green SLC25A13 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services UKGTN Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis Citrullinemia type 2, neonatal onset Citrullinemia type 2, adult onset Citrullinemia, adult-onset type II 603471 Citrullinemia, type II, neonatal-onset 605814 CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY NICCD
Green SLC25A13 in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY NICCD Citrullinemia type 2, neonatal onset Citrullinemia type 2, adult onset Citrullinemia, adult-onset type II 603471 Citrullinemia, type II, neonatal-onset 605814 Neonatal and Adult Cholestasis
Green SLC25A13 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) Citrullinemia, adult-onset type II 603471
Green SLC25A13 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 London North GLH NHS GMS Expert Review Green Phenotypes Citrullinemia, adult-onset type II 603471 Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias)
Red SLC25A13 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Citrullinemia, adult-onset type II, 603471 Citrullinemia, type II, neonatal-onset 605814
Red SLC25A13 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Red SLC25A13 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Citrullinemia, adult-onset type II, 603471 Citrullinemia, type II, neonatal-onset, 605814
Red SLC25A13 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green SLC25A13 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Citrullinemia, adult-onset type II, 603471 Citrullinemia, type II, neonatal-onset, 605814