Craniosynostosis

Gene: TWIST1

Green List (high evidence)

TWIST1 (twist family bHLH transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000122691
EnsemblGeneIds (GRCh37): ENSG00000122691
OMIM: 601622, Gene2Phenotype
TWIST1 is in 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Prescreened in R99 ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Saethre-Chotzen syndrome, 101400; Saethre-Chotzen syndrome with eyelid anomalies, 101400; Craniosynostosis, type 1, 123100; Robinow-Sorauf syndrome, 180750

Publications

Variants in this GENE are reported as part of current diagnostic practice

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: TWIST1; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Saethre-Chotzen syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Comment on list classification: Current diagnostic
Created: 1 Feb 2016, 12:01 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Saethre-Chotzen syndrome, 101400
  • Saethre-Chotzen syndrome with eyelid anomalies, 101400
  • Craniosynostosis, type 1, 123100
  • Robinow-Sorauf syndrome, 180750
OMIM
601622
Clinvar variants
Variants in TWIST1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TWIST1. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for TWIST1 were set to 8988166; 8988167

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for TWIST1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TWIST1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TWIST1 was added to Craniosynostosis syndromespanel. Sources: Expert list

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TWIST1 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen