TWIST1

twist family bHLH transcription factor 1
OMIM: 601622, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TWIST1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.72	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Tags SV/CNV 5'UTR
Green TWIST1 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.132	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TWIST1 in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Sweeny-Cox syndrome, MIM# 617746 Robinow-Sorauf syndrome, MIM# 180750 Tags SV/CNV 5'UTR
Green TWIST1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.296 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow-Sorauf syndrome, MIM# 180750
Green TWIST1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TWIST1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Saethre-Chotzen syndrome MONDO:0007042
Green TWIST1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Craniosynostosis, type 1 123100 Saethre-Chotzen syndrome with eyelid anomalies 101400 Saethre-Chotzen syndrome 101400 Robinow-Sorauf syndrome 180750
Green TWIST1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Saethre-Chotzen syndrome
Green TWIST1 in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Sweeny-Cox syndrome, MIM# 617746 Robinow-Sorauf syndrome, MIM# 180750 Tags SV/CNV 5'UTR
Red TWIST1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Sweeny-Cox syndrome, MIM# 617746 Robinow-Sorauf syndrome, MIM# 180750