Familial Neural Tube Defects
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Holoprosencephaly
- OMIM
- 165230
- Clinvar variants
- Variants in GLI2
- Penetrance
- Complete
- Panels with this gene
-
- Limb disorders
- Hypogonadotropic hypogonadism (GMS)
- DDG2P
- Differences in sex development
- Clefting
- Monogenic short stature
- Osteogenesis imperfecta
- Familial Neural Tube Defects
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Intellectual disability
History Filter Activity
25 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)GLI2 was added to Familial Neural Tube Defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)GLI2 was created by oniblock