TWIST1

twist family bHLH transcription factor 1
OMIM: 601622
PanelMode of inheritanceDetails
8 panels
R-numbers: R99
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis 1 123100, Saethre-Chotzen syndrome with or without eyelid anomalies 101400
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Saethre-Chotzen syndrome, 101400, Saethre-Chotzen syndrome with eyelid anomalies, 101400, Craniosynostosis, type 1, 123100, Robinow-Sorauf syndrome, 180750
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CRANIOSYNOSTOSIS, TYPE 1 123100, SAETHRE-CHOTZEN SYNDROME 101400
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SAETHRE-CHOTZEN SYNDROME, CRANIOSYNOSTOSIS, TYPE 1
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Saethre-Chotzen syndrome 101400
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SAETHRE-CHOTZEN SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Robinow-Sorauf syndrome, 180750, Saethre-Chotzen syndrome, 101400, Polydactyly
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Robinow-Sorauf syndrome 180750, Saethre-Chotzen syndrome 101400, Craniosynostosis, type 1 123100, Saethre-Chotzen syndrome with eyelid anomalies 101400