Structural eye disease
Gene: GLI2
Rahimov one family with anophthalmia,segregation unknown; Bertolacini one case with anophthalmia with de novo missense now benign in ClinvarCreated: 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 anophthalmiaCreated: 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
Phenotypes
Holoprosencephaly 9, HPE9
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Rahimov one family with anophthalmia; Bertolacini one case with anophthalmiaCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 9, 610829
Publications
Publications for gene GLI2 were changed from 17096318; 21204792 to 21204792; 17096318
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
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