RNU7-1:Ensemblv90

RNA, U7 small nuclear 1
ClinGen, DECIPHER

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green RNU7-1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Amber RNU7-1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.405

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Aicardi-Goutières syndrome 9, MIM#619487
    Tags
    • non-coding gene

    Green RNU7-1 in Mendeliome


    Version 1.3802

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Green RNU7-1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Green RNU7-1 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.40

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Aicardi-Goutieres syndrome 9 (MIM#619487)
    Tags
    • non-coding gene

    Green RNU7-1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Green RNU7-1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Green RNU7-1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.130

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Green RNU7-1 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Amber RNU7-1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Aicardi-Goutières syndrome 9, MIM#619487
    Tags
    • non-coding gene

    Green RNU7-1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Green RNU7-1 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 9 (MIM#619487)
    Tags
    • non-coding gene

    Green RNU7-1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene

    Green RNU7-1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 9, MIM# 619487
    Tags
    • non-coding gene