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 0.198

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green EP300 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

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 1.16

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

Green EP300 in Mendeliome


Version 1.1891

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 0.522

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 0.6063

review Unknown
Sources
  • Genetic Health Queensland
  • Expert Review Green

Red EP300 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

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 0.74

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 1.255

    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