SLC25A13

solute carrier family 25 member 13
OMIM: 603859, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC25A13 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

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 1.17

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 1.84
Latest signed off version: v1.21 (20 Aug 2020)

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 1.457

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 Inborn errors of metabolism


Version 2.134
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.42
    Latest signed off version: v1.17 (11 Nov 2020)

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1075
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services

    Red SLC25A13 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.35
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 or chorea or related movement disorder


    Version 1.103
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC25A13 in Severe Paediatric Disorders


    Version 1.77

    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