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 2.208
Latest signed off version: v2.2 (13 Feb 2020)

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 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.48
    Latest signed off version: v2.2 (13 Feb 2020)

    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