SLC25A13

solute carrier family 25 member 13
OMIM: 603859, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SLC25A13 in Cholestasis Level 2: Gastroenterological disorders Version 1.5 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814
Green SLC25A13 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814 Citrullinemia, adult-onset type II, MIM# 603471
Green SLC25A13 in Additional findings_Adult Level 2: Screening Version 1.130	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Citrullinaemia, adult-onset type II, MIM# 603471
Red SLC25A13 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Citrullinemia, type II, neonatal-onset, MIM#605814
Red SLC25A13 in Familial hypercholesterolaemia Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Citrullinemia, adult-onset type II, MIM#603471 Citrullinemia, type II, neonatal-onset, MIM#605814
Green SLC25A13 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3)
Green SLC25A13 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 Citrullinemia
Green SLC25A13 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.30 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814
Green SLC25A13 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 Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Citrullinemia, adult-onset type II 603471
Green SLC25A13 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3)
Green SLC25A13 in Aminoacidopathy Level 2: Metabolic disorders Version 1.137 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes citrin deficiency MONDO:0016602
Green SLC25A13 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814 Tags treatable metabolic
Green SLC25A13 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinemia, type II, neonatal-onset, MIM#605814