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Structural eye disease v0.91 | GLI2 | Nicola Ragge edited their review of gene: GLI2: Added comment: Rahimov one family with anophthalmia,segregation unknown; Bertolacini one case with anophthalmia with de novo missense now benign in Clinvar ; Changed publications: 17096318, 21204792; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.89 | GLI2 | Ivone Leong Publications for gene GLI2 were changed from 17096318; 21204792 to 21204792; 17096318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | GLI2 | Nicola Ragge reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17096318, 21204792; Phenotypes: Holoprosencephaly 9, 610829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.60 | GLI2 | Mariya Moosajee reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 9, HPE9; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.59 | GLI2 |
Ivone Leong 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 |
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Structural eye disease v0.49 | GLI2 | Ivone Leong edited their review of gene: GLI2: Changed phenotypes: Holoprosencephaly 9, 610829 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.39 | GLI2 | Ivone Leong reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17096318, 21204792; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.13 | GLI2 |
Ivone Leong 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 |