SLC25A15

solute carrier family 25 member 15
OMIM: 603861, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SLC25A15 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970

Green SLC25A15 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SLC25A15 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970

Green SLC25A15 in Hereditary Spastic Paraplegia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.11

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970

    Green SLC25A15 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)

    Green SLC25A15 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

    Green SLC25A15 in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970

    Green SLC25A15 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)

    Green SLC25A15 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • ornithine translocase deficiency MONDO:0009393 (HHH Syndrome)

    Green SLC25A15 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
    Tags
    • treatable
    • metabolic

    Green SLC25A15 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)