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  3. EP300
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Congenital Heart Defect

Gene: EP300

Green List (high evidence)
EP300 (E1A binding protein p300)
EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Panel includes both isolated and complex causes of CHD.
Created: 15 Jul 2022, 10:09 a.m. | Last Modified: 15 Jul 2022, 10:09 a.m.
Panel Version: 0.226

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rubinstein-Taybi syndrome 2, MIM# 613684

Created: 15 Jul 2022, 10:09 a.m.
Last Modified: 15 Jul 2022, 10:09 a.m.
Panel version: 0.226

Chloe Stutterd (Victorian Clinical Genetics Services)

I don't know

Included in Victor Chang CHD gene list. Mice homozygotes for targeted null mutations have CHD (MGI ID: 1276116). Five patients reported with with CHD (VSD, PFO, PDA, valve dysplasia), all with extra-cardiac features of Rubinstein–Taybi syndrome (24352918; 24476420).
Sources: Expert list, Literature
Created: 15 Jul 2022, 4:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ventricular septal defect; Patent foramen ovale; Patent ductus arteriosus; mild valve dysplasia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jul 2022, 4:03 a.m.

Panel version: 0.219

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rubinstein-Taybi syndrome 2, MIM# 613684
OMIM
602700
Clinvar variants
Variants in EP300
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ep300 has been classified as Green List (High Evidence).

15 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ep300 has been classified as Green List (High Evidence).

15 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EP300 were changed from Ventricular septal defect; Patent foramen ovale; Patent ductus arteriosus; mild valve dysplasia to Rubinstein-Taybi syndrome 2, MIM# 613684

15 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ep300 has been classified as Green List (High Evidence).

15 Jul 2022, Gel status: 0

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

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: EP300 was added gene: EP300 was added to Congenital Heart Defect. Sources: Expert list,Literature Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EP300 were set to 24352918; 24476420 Phenotypes for gene: EP300 were set to Ventricular septal defect; Patent foramen ovale; Patent ductus arteriosus; mild valve dysplasia Penetrance for gene: EP300 were set to unknown Review for gene: EP300 was set to AMBER gene: EP300 was marked as current diagnostic