ENAM

enamelin
OMIM: 606585, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ENAM in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amelogenesis imperfecta, type IB, MIM# 104500
  • Amelogenesis imperfecta, type IC, MIM# 204650

Red ENAM in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.86

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Amelogenesis imperfecta, type IB, MIM# 104500
  • Amelogenesis imperfecta, type IC, MIM# 204650

Green ENAM in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 1.10

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IB, MIM# 104500
  • Amelogenesis imperfecta, type IC, MIM# 204650