FAM83H:Ensemblv90

family with sequence similarity 83 member H
OMIM: 611927, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FAM83H in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amelogenesis imperfecta, type IIIA MIM#130900

Green FAM83H in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 1.12

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIIA MIM#130900

Green FAM83H in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Amelogenesis imperfecta, type IIIA MIM#130900