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Differences in sex development

Gene: TWIST2

Red List (low evidence)
TWIST2 (twist family bHLH transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000233608
EnsemblGeneIds (GRCh37): ENSG00000233608
OMIM: 607556, Gene2Phenotype
TWIST2 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Variants also reported in Ablepharon-macrostomia syndrome 200110, not relevant for this panel
Created: 13 Jul 2016, 1:05 p.m.
Created: 13 Jul 2016, 1:05 p.m.

Panel version: 0.148

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Barber-Say syndrome 209885
  • Focal facial dermal dysplasia 3, Setleis type 227260
OMIM
607556
Clinvar variants
Variants in TWIST2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

13 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TWIST2 were set to Barber-Say syndrome 209885; Focal facial dermal dysplasia 3, Setleis type 227260

13 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TWIST2 were set to 26119818

13 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TWIST2 was created by sleigh

13 Jul 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TWIST2 was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen