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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. TWIST1
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GMS Musculoskeletal specialist test group Skeletal dysplasia

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Craniosynostosis syndrome gp of SD. cranio,digital abnormalities, short stature someimes, green - multiple mutations. Do you report variants in this gene as part of your current diagnostic practice? YES - for CSS; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Robinow-Sorauf syndrome 180750
  • Saethre-Chotzen syndrome 101400
  • Craniosynostosis, type 1 123100
  • Saethre-Chotzen syndrome with eyelid anomalies 101400
OMIM
601622
Clinvar variants
Variants in TWIST1
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TWIST1 was added gene: TWIST1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TWIST1 were set to Robinow-Sorauf syndrome 180750; Saethre-Chotzen syndrome 101400; Craniosynostosis, type 1 123100; Saethre-Chotzen syndrome with eyelid anomalies 101400