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Limb disorders

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Saethre-Chotzen syndrome (SCS) has a variable spectrum of manifestations and includes brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present. In 37 unrelated individuals with a clinical diagnosis of SCS, 46% had an identifiable pathogenic variants PMID: 9585583. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces, and known to be caused by pathogenic variants in TWIST1 and considered part of the mild end of the phenotypic spectrum of SCS (PMID:12791045;25565733).
Created: 7 Nov 2018, 1:26 p.m.

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

Phenotypes
Polydactyly; Robinow-Sorauf syndrome, 180750; Saethre-Chotzen syndrome, 101400

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow-Sorauf syndrome, 180750
  • Saethre-Chotzen syndrome, 101400
  • Polydactyly
OMIM
601622
Clinvar variants
Variants in TWIST1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Louise Daugherty: Saethre-Chotzen syndrome (SCS)

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: twist1 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to TWIST1. Mode of inheritance for gene TWIST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Robinow-Sorauf syndrome, 180750; Saethre-Chotzen syndrome, 101400; Polydactyly for gene: TWIST1 Publications for gene TWIST1 were changed from to 11754069; 12791045; 16251895; 10465122; 30152628; 9792856; 11977182; 25565733; 9585583 Rating Changed from Red List (low evidence) to Green List (high evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TWIST1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TWIST1 was created by Ellen McDonagh