| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v0.76 | GJA8 | Nicola Ragge reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 1, multiple types, 116200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | GJA8 | Ivone Leong edited their review of gene: GJA8: Changed phenotypes: Cataract 1, multiple types, 116200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.41 | GJA8 | Ivone Leong Publications for gene: GJA8 were set to 29464339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.40 | GJA8 | Ivone Leong Publications for gene: GJA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | GJA8 | Ivone Leong reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | GJA8 |
Ivone Leong gene: GJA8 was added gene: GJA8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA8 were set to Cataract 1, multiple types, 116200 |
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