RNU7-1

RNA, U7 small nuclear 1
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green RNU7-1 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi–Goutières syndrome-like
    • Type I interferonopathy
    Tags
    • locus-type-rna-small-nuclear
    • gene-checked
    Green RNU7-1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutières syndrome-like
    • Type 1 interferonopathy
    Tags
    • locus-type-rna-small-nuclear
    • gene-checked
    Green RNU7-1 in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Type I interferonopathy
    • Aicardi-Goutières syndrome
    Tags
    • gene-checked
    • locus-type-rna-small-nuclear
    Green RNU7-1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi–Goutières syndrome-like
    • Type I interferonopathy
    Tags
    • gene-checked
    • locus-type-rna-small-nuclear
    Green RNU7-1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi–Goutières syndrome-like
    • Type I interferonopathy
    Tags
    • gene-checked
    • locus-type-rna-small-nuclear