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  3. TWIST2
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Rare syndromic craniosynostosis or isolated multisuture synostosis

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 8 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo variant (p.Arg64His) was identified within the Timberlake exome sequencing cohort of patients with lambdoid synostosis (PMID:31292255).
Created: 23 Jul 2023, 7:52 p.m. | Last Modified: 23 Jul 2023, 7:52 p.m.
Panel Version: 4.166

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 7:52 p.m.
Last Modified: 23 Jul 2023, 7:52 p.m.
Panel version: 4.166

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

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

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.
Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: TWIST2 were set to

23 Jul 2023, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: TWIST2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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