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| Structural eye disease v1.115 | ASPH |
Ivone Leong Tag Q3_21_rating was removed from gene: ASPH. Tag Q3_21_NHS_review was removed from gene: ASPH. |
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| Structural eye disease v1.115 | ASPH | Ivone Leong commented on gene: ASPH: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.114 | ASPH |
Ivone Leong Source Expert Review Green was added to ASPH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.111 | ASPH | Ivone Leong Publications for gene: ASPH were set to 31274573; 24768550; 31012784; 34018898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | ASPH | Nicola Ragge reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 30194805, 31274573, 31012784, 34018898, 33251883, 24768550; Phenotypes: Traboulsi syndrome 601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.83 | ASPH | Tom Cullup reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24768550; Phenotypes: Traboulsi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.76 | ASPH |
Ivone Leong Tag Q3_21_rating tag was added to gene: ASPH. Tag Q3_21_NHS_review tag was added to gene: ASPH. |
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| Structural eye disease v1.76 | ASPH | Ivone Leong Added comment: Comment on publications: Additional case; however, I could not access the article. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.76 | ASPH | Ivone Leong Publications for gene: ASPH were set to 31274573; 24768550; 31012784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.75 | ASPH | Ivone Leong Classified gene: ASPH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.75 | ASPH | Ivone Leong Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There are >3 unrelated cases, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.75 | ASPH | Ivone Leong Gene: asph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.74 | ASPH | Ivone Leong Phenotypes for gene: ASPH were changed from ectopia lentis; facial dysmorphism; Traboulsi syndrome to Traboulsi syndrome, OMIM:601552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.73 | ASPH |
Julia Baptista gene: ASPH was added gene: ASPH was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to 31274573; 24768550; 31012784 Phenotypes for gene: ASPH were set to ectopia lentis; facial dysmorphism; Traboulsi syndrome Review for gene: ASPH was set to GREEN gene: ASPH was marked as current diagnostic Added comment: Sources: Literature |
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