Hypogonadotropic hypogonadism
Gene: GLI2EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 16 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P for relevant phenotype. Found in 0/4 sources for OMIM 615849. One reviewer recommends Green. Four terminating variants found in OMIM 615849, two in families and two in individuals. At least 7 variants identified in Holoprosencephaly 9 610829 and 4 in Culler-Jones syndrome 615849Created: 13 Oct 2016, 8:01 a.m.
Mehul Dattani (UCL Institute of Child Health)
Associated with hypogonadotrophic hypogonadism as well as combined pituitary hormone deficiencies.Created: 24 May 2016, 12:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Culler-Jones syndrome, 615849; Holoprosencephaly-9, 610829
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849
- Holoprosencephaly-9, 610829
- OMIM
- 165230
- Clinvar variants
- Variants in GLI2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hypogonadotropic hypogonadism (GMS)
- Clefting
- Structural eye disease
- Differences in sex development
- Monogenic short stature
- Familial Neural Tube Defects
- Osteogenesis imperfecta
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- DDG2P
- Pituitary hormone deficiency
- Limb disorders
- Fetal anomalies
- Intellectual disability
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene GLI2 were set to Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849; Holoprosencephaly-9, 610829
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GLI2 were set to Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849; Holoprosencephaly-9, 610829
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Mehul Dattani (UCL Institute of Child Health)GLI2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
Created
Mehul Dattani (UCL Institute of Child Health)GLI2 was created by mdattani