PanelApp
  1. Genes and Genomic Entities
  2. USP18

USP18

ubiquitin specific peptidase 18
OMIM: 607057, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green USP18 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.99

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pseudo-TORCH syndrome 2, MIM# 617397

    Green USP18 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pseudo-TORCH syndrome 2 MIM#617397

    Red USP18 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.357

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pseudo-TORCH syndrome 2 MIM#617397

    Green USP18 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Pseudo-TORCH syndrome 2, MIM#617397
    Tags
    • treatable

    Green USP18 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.28

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pseudo-TORCH syndrome 2, MIM# 617397

    Green USP18 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
    • Pseudo-TORCH syndrome 2
    • OMIM #617397

    Green USP18 in Fetal anomalies


    Version 1.465

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Pseudo-TORCH syndrome 2, MIM#617397

    Amber USP18 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Pseudo-TORCH syndrome 2 MIM#617397