Limb disorders
Gene: GLI2EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
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
Phenotypes
Culler-Jones syndrome 615849; Holoprosencephaly 9 610829
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Holoprosencephaly 9 610829
- Culler-Jones syndrome 615849
- Polydactyly
- OMIM
- 165230
- Clinvar variants
- Variants in GLI2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Differences in sex development
- Hypogonadotropic hypogonadism (GMS)
- Monogenic short stature
- Structural eye disease
- Intellectual disability
- Familial Neural Tube Defects
- Osteogenesis imperfecta
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
- Limb disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Postaxial polydactyly is seen
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: gli2 has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Eleanor Williams (Genomics England Curator)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)
Added New Source
Ellen McDonagh (Genomics England Curator)GLI2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)GLI2 was created by Ellen McDonagh