PanelApp (stage)
  1. Genes and Genomic Entities
  2. MSX1

MSX1

msh homeobox 1
OMIM: 142983, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MSX1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia

Green MSX1 in Oligodontia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.29

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MSX1 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.86

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia 3, Witkop type, 189500

Green MSX1 in Clefting disorders

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Tooth agenesis, selective, 1, with or without orofacial cleft, 106600
  • Orofacial cleft 5, 608874
  • Cleft lip
  • CLP with dental anomalies

Green MSX1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Orofacial cleft 5 (MIM#608874)