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Mendeliome

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with syndromic and non-syndromic forms of craniosynostosis/craniofacial disorders.

Multiple families reported.
Created: 6 Jan 2022, 4:58 a.m. | Last Modified: 6 Jan 2022, 4:58 a.m.
Panel Version: 0.10530

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 1, MIM# 123100
  • Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400
  • Sweeny-Cox syndrome, MIM# 617746
  • Robinow-Sorauf syndrome, MIM# 180750
Tags
SV/CNV 5'UTR
OMIM
601622
Clinvar variants
Variants in TWIST1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750

6 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TWIST1 were set to

6 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TWIST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jan 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: TWIST1. Tag 5'UTR tag was added to gene: TWIST1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TWIST1 was added gene: TWIST1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TWIST1 was set to Unknown