Craniosynostosis

Gene: TWIST2

Red List (low evidence)

TWIST2 (twist family bHLH transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000233608
EnsemblGeneIds (GRCh37): ENSG00000233608
OMIM: 607556, Gene2Phenotype
TWIST2 is in 7 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Dysmorphism but no documented CSS? On Blueprint genetics CSS panel ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Ablepharon-macrostomia syndrome; Barber-Say syndrome; Focal facial dermal dysplasia 3, Setleis type

Eleanor Williams (Genomics England Curator)

I don't know

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: TWIST2; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
Phenotypes
  • Ablepharon-macrostomia syndrome
  • Barber-Say syndrome
  • Focal facial dermal dysplasia 3, Setleis type
OMIM
607556
Clinvar variants
Variants in TWIST2
Penetrance
None
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Focal facial dermal dysplasia 3, Setleis type; Barber-Say syndrome; Ablepharon-macrostomia syndrome for gene: TWIST2

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: TWIST2 was added gene: TWIST2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: TWIST2 was set to