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


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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


    Version 4.63
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    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