Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: GLI2

Green List (high evidence)

GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Intellectual disability/developmental delay can be a feature of the condition, but many cases are reported with normal cognition.
Created: 19 Oct 2024, 1:32 a.m. | Last Modified: 19 Oct 2024, 1:32 a.m.
Panel Version: 0.6516

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369
OMIM
165230
Clinvar variants
Variants in GLI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gli2 has been classified as Green List (High Evidence).

19 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GLI2 were changed from to postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369

19 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GLI2 were set to

19 Oct 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GLI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLI2 was added gene: GLI2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLI2 was set to Unknown