NUBPL

nucleotide binding protein like
OMIM: 613621, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green NUBPL in White matter disorders and cerebral calcification - narrow panel


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

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency
    • Mitochondrial Leukoencephalopathy
    Green NUBPL in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial Leukoencephalopathy
    • Mitochondrial complex I deficiency
    Tags
    • non-coding-known-pathogenic
    Green NUBPL 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 21, 618242
    Green NUBPL in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.620

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
    • Isolated complex I deficiency
    • Mitochondrial complex I deficiency, 252010
    • Mitochondrial Diseases
    • Mitochondrial Respiratory Chain Complex I Deficiency
    Green NUBPL in Likely inborn error of metabolism - targeted testing not possible


    Version 5.8
    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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, 252010
    • Mitochondrial Diseases
    • Isolated complex I deficiency
    • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
    • Mitochondrial Respiratory Chain Complex I Deficiency
    Green NUBPL in Possible mitochondrial disorder - nuclear genes


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 21, 618242
    Green NUBPL in Fetal anomalies


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    Green NUBPL in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
    Amber NUBPL in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.14
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency 252010
    Green NUBPL in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 21, OMIM:618242
    Green NUBPL in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Isolated complex I deficiency
    • Mitochondrial complex I deficiency, 252010
    • Mitochondrial Diseases
    • Mitochondrial Respiratory Chain Complex I Deficiency
    Amber NUBPL in Paediatric or syndromic cardiomyopathy


    Version 4.7
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 21, 618242
    Red NUBPL in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green NUBPL in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 21, 618242