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| Structural eye disease v3.33 | SMG9 | Sarah Leigh Publications for gene: SMG9 were set to 27018474; 33242396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.32 | SMG9 | Sarah Leigh Publications for gene: SMG9 were set to 27018474 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | SMG8 |
Hannah Knight gene: SMG8 was added gene: SMG8 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG8 were set to 34761517 Phenotypes for gene: SMG8 were set to Alzahrani-Kuwahara syndrome Review for gene: SMG8 was set to AMBER Added comment: PMID: 34761517 describe a patient with Alzahrani-Kuwahara syndrome and unilateral microphthalmia. There is some evidence that SMG9 may cause microphthalmia (PMID: 27018474), and these two genes work together Sources: Literature |
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| Structural eye disease v0.91 | SMG9 | Nicola Ragge reviewed gene: SMG9: Rating: AMBER; Mode of pathogenicity: ; Publications: 27018474; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | SMG9 |
Ivone Leong Source NHS GMS was added to SMG9. Publications for gene SMG9 were changed from to 27018474 |
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| Structural eye disease v0.88 | SMG9 |
Ivone Leong Source Expert Review Amber was added to SMG9. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.60 | SMG9 | Mariya Moosajee reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Heart and Brain Malformation Syndrome: HBMS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | SMG9 |
Ivone Leong gene: SMG9 was added gene: SMG9 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMG9 were set to Heart and Brain Malformation Syndrome, HBMS, 616920 |
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