Hyperinsulinism
Gene: EP300EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 11 panels
1 review
Chirag Patel (Genetic Health Queensland)
Established gene-disease association.
Hyperinsulinaemic hypoglycaemia reported in less than 5%.
Sources: LiteratureCreated: 14 May 2024, 5:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rubinstein-Taybi syndrome 2, OMIM #613684
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Rubinstein-Taybi syndrome 2, OMIM #613684
- OMIM
- 602700
- Clinvar variants
- Variants in EP300
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ep300 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EP300 were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ep300 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: EP300 was added gene: EP300 was added to Hyperinsulinism. Sources: Literature Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EP300 were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588 Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 2, OMIM #613684 Review for gene: EP300 was set to GREEN gene: EP300 was marked as current diagnostic