Craniosynostosis

Gene: ESCO2

Amber List (moderate evidence)

ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Craniofacial anomalies - oxycephalic skull like Crouzon in one case (not genetically confirmed?). Genereviews: Craniofacial abnormalities listed don't include CSS: microbrachycephaly listed. CSS occasional, refs 27-30 in Twigg/Wilkie review ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome, SC phocomelia syndrome

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Changing the rating from red to amber. 2 published cases plus one seen in a clinic.
Created: 17 Sep 2019, 11 a.m. | Last Modified: 17 Sep 2019, 11 a.m.
Panel Version: 1.128
Review from Helen Lord:
PMID: 31192177 - Colombo et al 2019 - 2 unrelated children – one Turkish and one Iranian, both patients had craniosynostosis as part of their phenotype. WES on these two trios identified two different homozygous inactivating variants (one splicing and 1 frameshift) in the ESCO2 gene.

Personal communication from Professor Wilkie – seen a case personally (unpublished evidence)

Also
PMID: 19574259 - Vega et al 2010 - provide clinical data for 31 patients from 26 families with proven ESCO2 mutations and combine this series with previously reported clinical and mutation data on 18 cases. Craniosynostosis is NOT mentioned directly in this paper.
Created: 27 Aug 2019, 11:02 a.m. | Last Modified: 27 Aug 2019, 11:02 a.m.
Panel Version: 1.127
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ESCO2; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Publications

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Craniosynostosis is low frequency complication of Roberts syndrome; only diagnose when other features of Roberts syndrome present
Created: 14 Sep 2015, 3:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome

Publications

Details

History Filter Activity

17 Sep 2019, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ESCO2 were set to

17 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: esco2 has been classified as Amber List (Moderate Evidence).

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Roberts syndrome; SC phocomelia syndrome for gene: ESCO2

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ESCO2.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

ESCO2 was added to Craniosynostosis syndromespanel. Sources: Expert list