Genomics England
GMS Panels
Panels
Genes and Entities

SERPINF1

serpin family F member 1
OMIM: 172860
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type VI, OMIM:613982, Osteogenesis imperfecta type 6, MONDO:0013515
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type VI, 613982, Osteogenesis Imperfecta, Recessive, osteogenesis imperfecta
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type VI, 613982, osteogenesis imperfecta, OI/osteoporosis, Osteogenesis Imperfecta, Recessive