Disorders of sex development

Gene: GLI2

Red List (low evidence)

GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 15 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.

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

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GLI2 were set to Culler-Jones syndrome, 615849; Holoprosencephaly-9, 610829

20 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

GLI2 was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

20 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GLI2 were set to Culler-Jones syndrome, 615849; Holoprosencephaly-9, 610829; GLI2-Related Holoprosencephaly

25 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GLI2 was added to Disorders of sex developmentpanel. Sources:

25 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GLI2 was created by sleigh