Congenital Heart Defect
Gene: ESCO2EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 16 panels
1 review
Chloe Stutterd (Victorian Clinical Genetics Services)
CHD reported in 8/31 patients with molecularly-confirmed Roberts syndrome (PMID 19574259). Septal defect and tricuspid regurgitation reported in one patient with molecularly-confirmed Roberts syndrome (PMID:31976146).
Sources: Expert list, LiteratureCreated: 15 Jul 2022, 4:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Roberts-SC phocomelia syndrome, MIM# 268300
- Atrial septal defect
- Ventricular septal defect
- Pulmonic stenosis
- tricuspid regurgitation
- OMIM
- 609353
- Clinvar variants
- Variants in ESCO2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hand and foot malformations
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Cataract
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: esco2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ESCO2 were changed from Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation to Roberts-SC phocomelia syndrome, MIM# 268300; Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: esco2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Chloe Stutterd (Victorian Clinical Genetics Services)gene: ESCO2 was added gene: ESCO2 was added to Congenital Heart Defect. Sources: Expert list,Literature Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 19574259; 31976146 Phenotypes for gene: ESCO2 were set to Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation Penetrance for gene: ESCO2 were set to Complete Review for gene: ESCO2 was set to GREEN gene: ESCO2 was marked as current diagnostic