EP300

E1A binding protein p300
OMIM: 602700, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

No list EP300 in Osteogenesis Imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

3 reviews Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age

Red EP300 in Unexplained skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.100

0 reviews Not set
Sources
Phenotypes
  • Rubinstein Taybi syndrome

Green EP300 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.24

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Rubenstein Taybi

Green EP300 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.70

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • RUBINSTEIN-TAYBI SYNDROME TYPE 2 (RSTS2)