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| Mendeliome v0.9068 | GLIS1 | Seb Lunke Marked gene: GLIS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9068 | GLIS1 | Seb Lunke Gene: glis1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9068 | GLIS1 | Seb Lunke Phenotypes for gene: GLIS1 were changed from Increased ocular pressure to Increased ocular pressure; Glaucoma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9067 | GLIS1 |
Seb Lunke changed review comment from: Functional studies in KO mice show increased intra-ocular pressure (IOT) caused by defects in the ocular drainage system. IOT is frequently associated with Glaucoma, however mice were not investigated for glaucoma, and no patients described. Sources: Literature; to: Functional studies in KO mice show increased intra-ocular pressure (IOT) caused by defects in the ocular drainage system. IOT is frequently associated with Glaucoma, however mice were not investigated for glaucoma, and no patients described. The authors did show dysregulation of GLIS1 in a human cell line study, and performed linkage analysis suggesting an association of the GLIS1 locus with Glaucoma in UK biobank samples. Sources: Literature |
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| Mendeliome v0.9067 | GLIS1 |
Seb Lunke gene: GLIS1 was added gene: GLIS1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GLIS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS1 were set to 34385434 Phenotypes for gene: GLIS1 were set to Increased ocular pressure Review for gene: GLIS1 was set to RED Added comment: Functional studies in KO mice show increased intra-ocular pressure (IOT) caused by defects in the ocular drainage system. IOT is frequently associated with Glaucoma, however mice were not investigated for glaucoma, and no patients described. Sources: Literature |
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