Limb disordersGene: GLI2
Postaxial polydactyly is seen in some patients with Culler-Jones syndrome and Postaxial polydactyly in patients with Holoprosencephaly 9. At least unrelated 4 patients reported with polydactyly or hexadactyly.
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Culler-Jones syndrome 615849; Holoprosencephaly 9 610829
Ellen McDonagh: Postaxial polydactyly is seen
Gene: gli2 has been classified as Green List (High Evidence).
Source Expert Review Green was added to GLI2. Mode of inheritance for gene GLI2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Holoprosencephaly 9 610829; Culler-Jones syndrome 615849 for gene: GLI2 Publications for gene GLI2 were changed from to 21204792; 14581620 Rating Changed from Red List (low evidence) to Green List (high evidence)
GLI2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
GLI2 was created by Ellen McDonagh