Activity
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13 actions
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| Structural eye disease v3.79 | SMG8 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: SMG8. Tag Q4_23_NHS_review was removed from gene: SMG8. |
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| Structural eye disease v3.79 | SMG8 | Arina Puzriakova reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.78 | SMG8 |
Arina Puzriakova Source NHS GMS was added to SMG8. Source Expert Review Green was added to SMG8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v3.37 | SMG8 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SMG8. Tag Q4_23_NHS_review tag was added to gene: SMG8. |
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| Structural eye disease v3.37 | SMG8 | Sarah Leigh commented on gene: SMG8: SMG8 variants are associated with Alzahrani-Kuwahara syndrome (OMIM:619268) and as strong Gen2Phen gene for the same condition. So far four validated variants have been reported (PMID: 33242396& 34761517) in unrelated cases of OMIM:619268. An ocular phenotype was observed in three of these cases (strabismus, cataract & microphthalmia). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.37 | SMG8 | Sarah Leigh Classified gene: SMG8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.37 | SMG8 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.37 | SMG8 | Sarah Leigh Gene: smg8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.36 | SMG8 | Sarah Leigh Classified gene: SMG8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.36 | SMG8 | Sarah Leigh Gene: smg8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.35 | SMG8 | Sarah Leigh Phenotypes for gene: SMG8 were changed from Alzahrani-Kuwahara syndrome to Alzahrani-Kuwahara syndrome, OMIM:619268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.34 | SMG8 | Sarah Leigh Publications for gene: SMG8 were set to 34761517 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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