RERE:Ensemblv90

arginine-glutamic acid dipeptide repeats
OMIM: 605226, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green RERE in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.53

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

Green RERE in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.233

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

Green RERE in Blepharophimosis


Level 2: Ophthalmological disorders
Version 1.3

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

Green RERE in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (OMIM #616975)

Green RERE in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

Green RERE in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

    Green RERE in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

    Green RERE in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.6

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

    Green RERE in Fetal anomalies


    Version 1.482

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

    Green RERE in Anophthalmia_Microphthalmia_Coloboma


    Level 2: Ophthalmological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

    Green RERE in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

    Green RERE in Blepharophimosis


    Level 2: Ophthalmological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

    Green RERE in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • ClinGen
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (OMIM #616975)

    Green RERE in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

    Green RERE in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975