FAM46A

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green FAM46A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Osteogenesis imperfecta, type XVIII, OMIM:617952
    Tags
    • new-gene-name
    Green FAM46A in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type XVIII, OMIM:617952
    • Osteogenesis imperfecta, type 18, MONDO:0044329
    Tags
    • new-gene-name
    Green FAM46A in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type XVIII, OMIM:617952
    • osteogenesis imperfecta, type 18, MONDO:0044329
    Tags
    • new-gene-name