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  3. GLI2
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Structural eye disease

Gene: GLI2

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

3 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Rahimov one family with anophthalmia,segregation unknown; Bertolacini one case with anophthalmia with de novo missense now benign in Clinvar
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB Rahimov one family with anophthalmia; Bertolacini one case with anophthalmia
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 9, 610829

Publications

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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Holoprosencephaly 9, HPE9

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Rahimov one family with anophthalmia; Bertolacini one case with anophthalmia
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 9, 610829

Publications

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

History Filter Activity

1 Oct 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene GLI2 were changed from 17096318; 21204792 to 21204792; 17096318

23 Apr 2019, Gel status: 2

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source London North GLH was added to GLI2. Mode of inheritance for gene GLI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GLI2 was added gene: GLI2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI2 were set to 17096318; 21204792 Phenotypes for gene: GLI2 were set to Holoprosencephaly 9, 610829