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Severe Paediatric Disorders

Gene: EP300

Green List (high evidence)

EP300 (E1A binding protein p300)
EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: EP300; Recommended initial gene rating: Green List (high evidence); Phenotypes: Menke-Hennekam syndrome 2, 618333 (3) | Rubinstein-Taybi syndrome 2, 613684 (3); Mode of inheritance: ND | Autosomal dominant
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Rubinstein-Taybi syndrome 2, 613684
  • Menke-Hennekam syndrome 2, 618333
OMIM
602700
Clinvar variants
Variants in EP300
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugh