DIP2B_FRA12A_CGG

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DIP2B_FRA12A_CGG STR in Mendeliome


Version 1.2511

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Intellectual developmental disorder, autosomal dominant, FRA12A type MIM#136630
Tags
  • 5'UTR

Amber DIP2B_FRA12A_CGG STR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Mental retardation, FRA12A type MIM#136630
Tags
  • 5'UTR

Amber DIP2B_FRA12A_CGG STR in Repeat Disorders


Version 0.256

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mental retardation, FRA12A type MIM#136630
Tags
  • paediatric-onset