AMTN:Ensemblv90

amelotin
OMIM: 610912, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red AMTN in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Amelogenesis imperfecta, type IIIB

Red AMTN in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 1.12

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIIB

Red AMTN in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Red
Phenotypes
  • Amelogenesis imperfecta, type IIIB