1. Genes and Genomic Entities
  2. RNF220

RNF220

ring finger protein 220
OMIM: 616136, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green RNF220 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Other
    Phenotypes
    • Leukodystrophy, MONDO:0019046
    • Abnormal corpus callosum morphology, HP:0001273
    Green RNF220 in Ataxia and cerebellar anomalies - narrow panel


    Level 2: Neurology
    Version 9.3
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    • Literature
    Phenotypes
    • Ataxia, HP:0001251
    Green RNF220 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.16
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Other
    • Literature
    Phenotypes
    • Sensorineural hearing impairment, HP:0000407
    Amber RNF220 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071
    Amber RNF220 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.2
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dilated cardiomyopathy,MONDO:0005021