Pituitary hormone deficiency
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
1 review
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 12:03 p.m.
GLI2 is confirmed to be associated with Holoprosencephaly 9 in OMIM and Gene2Phenotype. GLI2 is a green gene in the Holoprosencephaly panel (Version 1.6). There are >3 reported cases of unrelated patients with panhypopituitarism who have variants in GLI2.Created: 7 Dec 2018, 4:13 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Culler-Jones syndrome (615849)
- Holoprosencephaly 9 (610829)
- OMIM
- 165230
- Clinvar variants
- Variants in GLI2
- Penetrance
- None
- 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
- Intellectual disability
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- DDG2P
- Pituitary hormone deficiency
- Limb disorders
- Fetal anomalies
History Filter Activity
30 Jan 2019, Gel status: 3
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: GLI2 is confirmed to be associ
8 Jan 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gli2 has been classified as Green List (High Evidence).
7 Dec 2018, Gel status: 3
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GLI2 were set to
7 Dec 2018, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GLI2 was added gene: GLI2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)