NUS1

NUS1 dehydrodolichyl diphosphate synthase subunit
OMIM: 610463, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red NUS1 in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.6
Signed off v.2.4 on 4 Mar 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    Phenotypes
    • ?Congenital disorder of glycosylation, type 1aa 617082

    Red NUS1 in Inborn errors of metabolism


    Version 2.8
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • ?Congenital disorder of glycosylation, type 1aa 617082

    Amber NUS1 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Epilepsy and intellectual disability

    Amber NUS1 in DDG2P


    Version 2.5
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Epilepsy and intellectual disability

    Green NUS1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.56
    Signed off v.2.2 on 13 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • ?Congenital disorder of glycosylation, type 1aa, 617082
    • Mental retardation, autosomal dominant 55, with seizures, 617831
    • Abnormality of extrapyramidal motor function

    Red NUS1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.66
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • #617082 - ?Congenital disorder of glycosylation, type 1aa
    • #617831 - Mental retardation, autosomal dominant 55, with seizures
    • Abnormality of extrapyramidal motor function

    Green NUS1 in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Congenital disorder of glycosylation, type 1aa, 617082
    • Mental retardation, autosomal dominant 55, with seizures, 617831