FAM46A

family with sequence similarity 46 member A
OMIM: 611357, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FAM46A in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVIII MIM#617952
Tags
  • new gene name

Green FAM46A in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 0.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVIII, MIM# 617952
Tags
  • new gene name

Green FAM46A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XVIII 617952

Green FAM46A in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Osteogenesis imperfecta, type 18, MONDO:0044329
  • Osteogenesis imperfecta, type XVIII, OMIM:617952
Tags
  • new gene name

Green FAM46A in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green, Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVIII, MIM# 617952