TWIST2

twist family bHLH transcription factor 2
OMIM: 607556, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TWIST2 in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Ablepharon-macrostomia syndrome, OMIM:200110 (AD) Barber-Say syndrome, OMIM:209885 (AD) Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR)
Red TWIST2 in Differences in sex development Level 2: Endocrinology Version 4.14 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 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) 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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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)