DIP2B

disco interacting protein 2 homolog B
OMIM: 611379, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red DIP2B in Mendeliome


Version 1.4851

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genetic Health Queensland
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • Mental retardation, FRA12A type, MIM# 136630
Tags
  • 5'UTR

Red DIP2B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, FRA12A type, MIM# 136630
Tags
  • 5'UTR

Amber DIP2B_FRA12A_CGG STR in Mendeliome


Version 1.4851

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 1.780

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 0.272

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • intellectual disability, FRA12A type MONDO:0007634
Tags
  • paediatric-onset