Hypogonadotropic hypogonadism

Gene: GLI2

Green List (high evidence)

GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 15 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 615849
Created: 13 Oct 2016, 8:01 a.m.

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

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

History Filter Activity

28 Oct 2016, Gel status: 4

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.

1 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GLI2 were set to Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849; Holoprosencephaly-9, 610829

1 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GLI2 were set to Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849; Holoprosencephaly-9, 610829

24 May 2016, Gel status: 0

Approved Gene

Sarah Leigh (Genomics England Curator)

This proposed gene was validated and added to this panel

24 May 2016, Gel status: 0

Added New Source

Mehul Dattani (UCL Institute of Child Health)

GLI2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:

24 May 2016, Gel status: 0

Created

Mehul Dattani (UCL Institute of Child Health)

GLI2 was created by mdattani