SLC25A13:Ensemblv90

Panel	Reviews	Mode of inheritance	Details
Filter panels 25 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 1.3802	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 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Citrullinemia, type II, neonatal-onset, MIM#605814
Red SLC25A13 in TCGA_PANCAN_2018 Version 0.3	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes NA
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 0.111	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 2.15	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 1.138 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 1.141	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
Green SLC25A13 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814
Green SLC25A13 in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Citrullinaemia, adult-onset type II, MIM# 603471
Red SLC25A13 in Familial hypercholesterolaemia Level 2: Cardiovascular disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red 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 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3)
Green SLC25A13 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Citrullinemia
Green SLC25A13 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814
Green SLC25A13 in Hyperammonaemia Level 2: Metabolic disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Genomics England PanelApp Expert Review Green Expert Review Green Phenotypes Citrullinemia, adult-onset type II 603471
Green SLC25A13 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3)
Green SLC25A13 in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes citrin deficiency MONDO:0016602
Green SLC25A13 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS BabySeq Category A gene Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814 Tags treatable metabolic
Green SLC25A13 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset, MIM#605814

SLC25A13:Ensemblv90

25 panels

Green SLC25A13 in Cholestasis

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Phenotypes

Green SLC25A13 in Mendeliome

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Phenotypes

Green SLC25A13 in Additional findings_Adult

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Phenotypes

Red SLC25A13 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Red SLC25A13 in TCGA_PANCAN_2018

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Phenotypes

Red SLC25A13 in Familial hypercholesterolaemia

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Phenotypes

Green SLC25A13 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Green SLC25A13 in Additional findings_Paediatric

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Phenotypes

Green SLC25A13 in Liver Failure_Paediatric

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Phenotypes

Green SLC25A13 in Hyperammonaemia

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Phenotypes

Green SLC25A13 in Prepair 1000+

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Phenotypes

Green SLC25A13 in Aminoacidopathy

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Phenotypes

Green SLC25A13 in Genomic newborn screening: BabyScreen+

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Phenotypes

Tags

Green SLC25A13 in Prepair 500+

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Phenotypes

Green SLC25A13 in Cholestasis

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Phenotypes

Green SLC25A13 in Additional findings_Adult

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Phenotypes

Red SLC25A13 in Familial hypercholesterolaemia

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Phenotypes

Green SLC25A13 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Green SLC25A13 in Additional findings_Paediatric

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Phenotypes

Green SLC25A13 in Liver Failure_Paediatric

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Phenotypes

Green SLC25A13 in Hyperammonaemia

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Phenotypes

Green SLC25A13 in Prepair 1000+

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Phenotypes

Green SLC25A13 in Aminoacidopathy

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Phenotypes

Green SLC25A13 in Genomic newborn screening: BabyScreen+

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Phenotypes

Tags

Green SLC25A13 in Prepair 500+

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Phenotypes