NUP188

nucleoporin 188
OMIM: 615587, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green NUP188 in White matter disorders and cerebral calcification - narrow panel


Version 3.31
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Sandestig-Stefanova syndrome, 618804
    Green NUP188 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.8
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Sandestig-Stefanova syndrome, 618804
    Green NUP188 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.63
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Sandestig-Stefanova syndrome, OMIM:618804
    Amber NUP188 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Sandestig-Stefanova syndrome, 618804
    Amber NUP188 in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Sandestig-Stefanova syndrome, OMIM:618804, MONDO:0032926
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review