Genomics England
GMS Panels
Panels
Genes and Entities

FAM46A

family with sequence similarity 46 member A
OMIM: 611357
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XVIII, OMIM:617952, Osteogenesis imperfecta, type 18, MONDO:0044329
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XVIII, OMIM:617952, osteogenesis imperfecta, type 18, MONDO:0044329
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XVIII, OMIM:617952