WNT1

Wnt family member 1
OMIM: 164820
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OSTEOGENESIS IMPERFECTA
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OSTEOGENESIS IMPERFECTA
R-numbers: R102
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XV, 615220, {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221, osteogenesis imperfecta
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
osteogenesis imperfecta, OI/osteoporosis, {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221, Osteogenesis imperfecta, type XV, 615220