1. Genes and Genomic Entities
  2. NDUFB7

NDUFB7

NADH:ubiquinone oxidoreductase subunit B7
OMIM: 603842, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber NDUFB7 in Mitochondrial disorder with complex I deficiency


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Tags
  • watchlist
Amber NDUFB7 in Likely inborn error of metabolism - targeted testing not possible


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
    Tags
    • watchlist
    Amber NDUFB7 in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
    Amber NDUFB7 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
    Red NDUFB7 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy
    Amber NDUFB7 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
    Tags
    • watchlist