Craniosynostosis
Gene: ESCO2
ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 16 panels
1 review
Tiong Tan (Victorian Clinical Genetics Services)
Two unrelated individuals with Roberts syndrome and craniosynostosis
Sources: LiteratureCreated: 3 Jun 2020, 12:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
268300 ROBERTS SYNDROME
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- 268300 ROBERTS SYNDROME
- 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
3 Jun 2020, Gel status: 2
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: esco2 has been classified as Amber List (Moderate Evidence).
3 Jun 2020, Gel status: 2
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: esco2 has been classified as Amber List (Moderate Evidence).
3 Jun 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: ESCO2 was added gene: ESCO2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 31192177 Phenotypes for gene: ESCO2 were set to 268300 ROBERTS SYNDROME Penetrance for gene: ESCO2 were set to Complete Review for gene: ESCO2 was set to AMBER