EP300

E1A binding protein p300
OMIM: 602700, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green EP300 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green EP300 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Rubinstein-Taybi syndrome 2, MIM# 613684
Amber EP300 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 2, MIM# 613684
Green EP300 in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rubinstein-Taybi syndrome 2, OMIM #613684
Green EP300 in Mendeliome


Version 1.2302

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 2 MIM#613684
  • Menke-Hennekam syndrome 2 MIM#618333
Green EP300 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green EP300 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Rubinstein-Taybi syndrome MONDO:0019188
Red EP300 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Rubinstein Taybi syndrome
  • Rubinstein-Taybi syndrome 180849
Green EP300 in Growth failure


Version 1.76

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Rubinstein-Taybi syndrome 2, MIM# 613684
  • Menke-Hennekam syndrome , MIM#2 618333
Green EP300 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.76

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rubinstein-Taybi syndrome 180849
    Green EP300 in Fetal anomalies


    Version 1.313

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Rubinstein-Taybi syndrome 2, MIM# 613684
    • Menke-Hennekam syndrome , MIM#2 618333