Genomics England
GMS Panels
Panels
Genes and Entities

TWIST2

twist family bHLH transcription factor 2
OMIM: 607556
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SETLEIS SYNDROME, OMIM:227260, ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ablepharon-macrostomia syndrome, OMIM:200110 (AD), Barber-Say syndrome, OMIM:209885 (AD), Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ablepharon-macrostomia syndrome, 200110, Barber-Say syndrome, 209885