Differences in sex development
Gene: GLI2

GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 16 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on views of John Achermann (UCL Institute of Child Health) regarding relevance of phenotype to this panel
Created: 28 Nov 2016, 11:26 a.m.

Associated with phenotypess in OMIM, and as a confirmed Developmental Disorder Gene / G2P for GLI2-Related Holoprosencephaly . Found in 0/4 sources for OMIM 615849 and 4/4 sources for Holoprosencephaly-9, 610829. Four terminating variants found in OMIM 615849, two in families and two in indivduals and seven variants found in 610829.
Created: 20 Sep 2016, 3:04 p.m.

Created: 20 Sep 2016, 3:04 p.m.

Panel version: 0.203

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
UKGTN

Phenotypes

Culler-Jones syndrome, 615849
Holoprosencephaly-9, 610829

OMIM

165230

Clinvar variants

Variants in GLI2

Penetrance

Complete

Panels with this gene