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Osteogenesis Imperfecta

Gene: EP300

No list

EP300 (E1A binding protein p300)
EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 5 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
27 Nov 2015, 3:04 p.m.

Details

Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
OMIM
602700
Clinvar variants
Variants in EP300
Penetrance
Complete
Panels with this gene

History Filter Activity

12 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

12 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EP300 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory