Growth failure in early childhood
Gene: GLI2EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 16 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Holoprosencephaly, hypopituitarism
- OMIM
- 165230
- Clinvar variants
- Variants in GLI2
- Penetrance
- None
- 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
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to GLI2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GLI2 was added gene: GLI2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI2 were set to Holoprosencephaly, hypopituitarism