NDUFS7

NADH:ubiquinone oxidoreductase core subunit S7
OMIM: 601825, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green NDUFS7 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 3 MIM#618224

Amber NDUFS7 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Leigh syndrome, MIM#256000

    Green NDUFS7 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Green NDUFS7 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NDUFS7 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NDUFS7 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 Green
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224)

    Green NDUFS7 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Mitochondrial respiratory chain complex I deficiency
    • Leigh syndrome
    • Genetic leukoencephalopathies: mitochondrial disorders
    • Mitochondrial Leukoencephalopathy

    Green NDUFS7 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
    • Leigh syndrome, 256000 (3)

    Green NDUFS7 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 3, 618224

    Red NDUFS7 in Fetal anomalies


    Version 1.465

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 3, MIM#618224

    Green NDUFS7 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 3 MIM#618224

    Green NDUFS7 in Prepair 500+


    Level 2: Screening
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 3 MIM#618224