1. Panels
  2. Monogenic short stature
  3. EP300
STRs in panel
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Monogenic short stature

Gene: EP300

Red List (low evidence)
EP300 (E1A binding protein p300)
EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Rubenstein Taybi
OMIM
602700
Clinvar variants
Variants in EP300
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: EP300 was added gene: EP300 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EP300 were set to Rubenstein Taybi