RERE

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green RERE in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.0

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 1.0

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 2.0

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 1.0

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 2.0

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 2.0

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 2.0

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 2.0

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 2.0

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