SNORD118

small nucleolar RNA, C/D box 118
OMIM: 616663, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red SNORD118 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • 614561

    Green SNORD118 in White matter disorders - adult onset


    Version 1.8
    Latest signed off version: v1.6 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy, brain calcifications, and cysts, 614561

    Red SNORD118 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • 614561
    Tags
    • locus-type-small-nucleolar

    Green SNORD118 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • 614561
    • Leukoencephalopathy, brain calcifications and cysts, 614561
    Tags
    • locus-type-small-nucleolar

    Green SNORD118 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Leukoencephalopathy with cerebral calcification & cysts

    Green SNORD118 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Leukoencephalopathy with cerebral calcification & cysts 614561

    Green SNORD118 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukoencephalopathy, brain calcifications, and cysts 614561

    Red SNORD118 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Leukoencephalopathy, brain calcifications, and cysts 614561
    Tags
    • locus-type-small-nucleolar

    No list SNORD118 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Leukoencephalopathy, brain calcifications, and cysts MIM#614561

    Green SNORD118 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy, brain calcifications, and cysts, 614561