SOST

PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SOST-Related Sclerosing Bone Dysplasias 122860, Sclerosteosis 1, 269500, Craniodiaphyseal dysplasia, autosomal dominant, 122860
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Sclerosteosis 1 269500, Craniodiaphyseal dysplasia, autosomal dominant 122860, Van Buchem disease 239100
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Craniodiaphyseal dysplasia, autosomal dominant 122860, Van Buchem disease 239100, Sclerosteosis 1 269500