TWIST1

twist family bHLH transcription factor 1
OMIM: 601622, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TWIST1 in Hydrocephalus Version 4.6 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400
Green TWIST1 in Limb disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow-Sorauf syndrome, 180750 Saethre-Chotzen syndrome, 101400 Polydactyly
Green TWIST1 in Common craniosynostosis syndromes Version 1.15 Latest signed off version: v1.2 (13 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert list Expert Review Green Phenotypes Craniosynostosis 1 OMIM:123100 Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400
Green TWIST1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Robinow-Sorauf syndrome 180750 Saethre-Chotzen syndrome 101400 Craniosynostosis, type 1 123100 Saethre-Chotzen syndrome with eyelid anomalies 101400
Green TWIST1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SAETHRE-CHOTZEN SYNDROME CRANIOSYNOSTOSIS, TYPE 1
Green TWIST1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert list Radboud University Medical Center, Nijmegen Phenotypes Saethre-Chotzen syndrome, 101400 Saethre-Chotzen syndrome with eyelid anomalies, 101400 Craniosynostosis, type 1, 123100 Robinow-Sorauf syndrome, 180750
Green TWIST1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOSYNOSTOSIS, TYPE 1 123100 SAETHRE-CHOTZEN SYNDROME 101400
Green TWIST1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes SAETHRE-CHOTZEN SYNDROME
Green TWIST1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 Sweeney-Cox syndrome, 617746 Robinow-Sorauf syndrome, 180750 Craniosynostosis 1, 123100