Hypogonadotropic hypogonadismGene: GLI2
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 615849
Created: 13 Oct 2016, 8:01 a.m.
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
Culler-Jones syndrome, 615849; Holoprosencephaly-9, 610829
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene GLI2 were set to Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849; Holoprosencephaly-9, 610829
Phenotypes for GLI2 were set to Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849; Holoprosencephaly-9, 610829
This proposed gene was validated and added to this panel
GLI2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
GLI2 was created by mdattani