Genomics England

TWIST1

twist family bHLH transcription factor 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Common craniosynostosis syndromes 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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CRANIOSYNOSTOSIS, TYPE 1 123100, SAETHRE-CHOTZEN SYNDROME 101400
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SAETHRE-CHOTZEN SYNDROME, CRANIOSYNOSTOSIS, TYPE 1
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes SAETHRE-CHOTZEN SYNDROME
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Robinow-Sorauf syndrome, 180750, Saethre-Chotzen syndrome, 101400, Polydactyly
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	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 Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	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