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Common craniosynostosis syndromes

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 9 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of a list taken from the National Genomics Test Directory entry for R99 Common craniosynostosis syndromes. Submitted Gene Symbol: TWIST1.
Created: 2 Apr 2019, 4:05 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Expert Review Green
Phenotypes
  • Craniosynostosis 1 OMIM:123100
  • Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400
OMIM
601622
Clinvar variants
Variants in TWIST1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TWIST1 were changed from Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400 to Craniosynostosis 1 OMIM:123100; Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400

3 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400

2 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: TWIST1 was added gene: TWIST1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown