TWIST2

twist family bHLH transcription factor 2
OMIM: 607556, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TWIST2 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ablepharon-macrostomia syndrome, MIM# 200110
  • Barber-Say syndrome, MIM# 209885
  • Focal facial dermal dysplasia 3, Setleis type, MIM# 227260

Red TWIST2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • BARBER-SAY SYNDROME
  • BBRSAY

Green TWIST2 in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ablepharon-macrostomia syndrome, 200110
  • Barber-Say syndrome, 209885