PanelApp
  1. Genes and Genomic Entities
  2. RNF216

RNF216

ring finger protein 216
OMIM: 609948, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green RNF216 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.43

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840

    Green RNF216 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.11

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840

    Green RNF216 in Mendeliome


    Version 1.2789

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840

    Green RNF216 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.582

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RNF216 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.49

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Cerebellar ataxia and hypogonadotrophic hypogonadism
    • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840

    Green RNF216 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.43

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840

    Amber RNF216 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.150

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840

    Green RNF216 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.348

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840

    Green RNF216 in Infertility and Recurrent Pregnancy Loss


    Version 1.7

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840