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| Structural eye disease v0.76 | COL4A1 | Nicola Ragge reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24628545, 30181649; Phenotypes: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, 607595; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | COL4A1 | Ivone Leong reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24628545, 30181649; Phenotypes: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | COL4A1 |
Ivone Leong Source NHS GMS was added to COL4A1. Mode of pathogenicity for gene COL4A1 was changed from to Other - please provide details in the comments Added phenotypes BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780 for gene: COL4A1 Publications for gene COL4A1 were changed from to 30181649; 24628545 |
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| Structural eye disease v0.2 | COL4A1 |
Ellen McDonagh gene: COL4A1 was added gene: COL4A1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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