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Structural eye disease v0.76 GCNT2 Nicola Ragge reviewed gene: GCNT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 13 with adult i phenotype, 116700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.49 GCNT2 Ivone Leong edited their review of gene: GCNT2: Changed phenotypes: Cataract 13 with adult i phenotype, 116700
Structural eye disease v0.39 GCNT2 Ivone Leong reviewed gene: GCNT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.13 GCNT2 Ivone Leong gene: GCNT2 was added
gene: GCNT2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GCNT2 were set to Cataract 13 with adult i phenotype, 116700