1. Genes and Genomic Entities
  2. FAM46A

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 2: Musculoskeletal
Version 10.5
Latest signed off version: v10.0 (12 Aug 2026)

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


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		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 2: Musculoskeletal
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    		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