Hypogonadotropic hypogonadism (GMS)
Gene: GLI2
GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 16 panels
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Wessex and West Midlands GLH
- Expert Review Red
- NHS GMS
- South West GLH
- Phenotypes
-
- Culler-Jones syndrome (OMIM 615849)
- OMIM
- 165230
- Clinvar variants
- Variants in GLI2
- Penetrance
- None
- Panels with this gene
-
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Differences in sex development
- Hypogonadotropic hypogonadism (GMS)
- Clefting
- Limb disorders
- Structural eye disease
- Monogenic short stature
- Familial Neural Tube Defects
- Osteogenesis imperfecta
- Intellectual disability
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
History Filter Activity
22 Mar 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to GLI2.
15 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Culler-Jones syndrome (OMIM 615849) for gene: GLI2
15 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: GLI2 was added gene: GLI2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted