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| Structural eye disease v1.9 | SPATA13 | Eleanor Williams Tag adult-onset tag was added to gene: SPATA13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.9 | SPATA13 |
Eleanor Williams gene: SPATA13 was added gene: SPATA13 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: SPATA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPATA13 were set to 32339198 Phenotypes for gene: SPATA13 were set to primary angle-closure glaucoma Review for gene: SPATA13 was set to RED Added comment: PMID: 32339198 Waseem et al report 1 large UK family and 8 unrelated individuals with variants in SPATA13 and primary angle-closure glaucoma. This is sufficient to rate this gene green for the disease association, however as the disease is adult-onset in these patients it is not appropriate to rate it green on this panel. Adding as red on advice of Genomics England Clinical team so that it will be reviewed if the scope of the panel changes in future. Sources: Literature |
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