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
-
- Limb disorders
- Intellectual disability
- DDG2P
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pituitary hormone deficiency
- Familial Neural Tube Defects
- Hypogonadotropic hypogonadism (GMS)
- Osteogenesis imperfecta
- Monogenic short stature
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Differences in sex development
- Clefting
- Structural eye disease
- Holoprosencephaly
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