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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: SHOC2

Amber List (moderate evidence)

SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 16 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Single case described with CSS (Takenouchi et al 2014). Reported cases of Noonan due to recurrent variant. CSS case has the same variant, p.S2G. Other Noonan cases reported to have 'abnormal head shape', but CSS not specifically documented. AW aware of unpublished Oxford case. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Noonan-like syndrome with loose anagen hair- 607721

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to amber. Amber rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. A Noonan syndrome-related gene, but the group decided it should be Amber as there is a less well-evidenced association with craniosynostosis than other Noonan genes
Created: 21 May 2019, 1:02 p.m.
Comment on publications: PMID: 25123707 - Takenouchi et al 2014
Created: 14 May 2019, 11:53 a.m.
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: SHOC2; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

21 May 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: shoc2 has been classified as Amber List (Moderate Evidence).

14 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SHOC2 were set to

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Noonan-like syndrome with loose anagen hair 607721 for gene: SHOC2

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SHOC2 was added gene: SHOC2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SHOC2 was set to