Clefting
Gene: TWIST2

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

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Sufficient cases. However, only one mother had clefting. This does not seem to represent a clear association. Therefore exclude.
Created: 26 May 2017, 7:40 a.m.

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

Phenotypes
BARBER-SAY SYNDROME; BBRSAY

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

BARBER-SAY SYNDROME
BBRSAY

OMIM

607556

Clinvar variants

Variants in TWIST2

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TWIST2 was added to Cleftingpanel. Sources: Expert Review Red

26 May 2017, Gel status: 0

Created