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Intellectual disability syndromic and non-syndromic

Gene: GLI3

Green List (high evidence)

GLI3 (GLI family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 23 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

ID/DD is a common feature of the condition associated with large (>300-kb) deletions that encompass GLI3. Whereas, ID/DD are a rare feature (<10%) associated with pathogenic GLI3 variants.
Created: 19 Oct 2024, 1:44 a.m. | Last Modified: 19 Oct 2024, 1:44 a.m.
Panel Version: 0.6519

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Greig cephalopolysyndactyly syndrome MONDO:0008287

Publications

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

History Filter Activity

19 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gli3 has been classified as Green List (High Evidence).

19 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GLI3 were changed from to Greig cephalopolysyndactyly syndrome MONDO:0008287

19 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GLI3 were set to

19 Oct 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GLI3 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: GLI3 was added gene: GLI3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLI3 was set to Unknown