TWIST2

twist family bHLH transcription factor 2
OMIM: 607556, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
No list TWIST2 in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Focal facial dermal dysplasia 3, Setleis type
Red TWIST2 in Differences in sex development Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 4.6 Latest signed off version: v4.5 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Barber-Say syndrome 209885 Focal facial dermal dysplasia 3, Setleis type 227260
No list TWIST2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.1 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 Expert Review Removed NHS GMS Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Ablepharon-macrostomia syndrome 200110 Barber-Say syndrome 209885 Tags curated_removed
Green TWIST2 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Ablepharon-macrostomia syndrome, 200110 Barber-Say syndrome, 209885 Tags watchlist
Red TWIST2 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, imprinted status unknown	Sources NHS GMS Phenotypes Ablepharon-macrostomia syndrome Barber-Say syndrome Focal facial dermal dysplasia 3, Setleis type
Green TWIST2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes SETLEIS SYNDROME, OMIM:227260 ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110
Red TWIST2 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes 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, imprinted status unknown	Sources Expert Review Red Phenotypes BARBER-SAY SYNDROME BBRSAY
Amber TWIST2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Barber-Say syndrome, 209885 (includes mental retardation in some patients) Focal facial dermal dysplasia 3, Setleis type, 227260 (can include intellectual disability and developmental delay)
Green TWIST2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ablepharon-macrostomia syndrome, 200110 Focal facial dermal dysplasia 3, Setleis type, 227260 Barber-Say syndrome, 209885