Activity
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10 actions
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| Retinal disorders v2.243 | TINF2 | Ivone Leong Tag for-review was removed from gene: TINF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | TINF2 | Ivone Leong commented on gene: TINF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | TINF2 |
Ivone Leong Source Expert Review Green was added to TINF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.20 | TINF2 | Arina Puzriakova Publications for gene: TINF2 were set to 18252230; 21477109; 25067791; 28095086; 28866069; 29749240; 30478948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.19 | TINF2 | Arina Puzriakova edited their review of gene: TINF2: Changed publications: 18252230, 21477109, 28095086, 28866069, 29749240, 30478948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.19 | TINF2 | Arina Puzriakova Classified gene: TINF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.19 | TINF2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.19 | TINF2 | Arina Puzriakova Gene: tinf2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.18 | TINF2 |
Arina Puzriakova changed review comment from: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings. Sources: Literature; to: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings. Retinopathy can be the first presenting feature in patients with Revesz syndrome and so inclusion of TINF2 on this panel is likely to be of benefit. Sources: Literature |
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| Retinal disorders v2.18 | TINF2 |
Arina Puzriakova gene: TINF2 was added gene: TINF2 was added to Retinal disorders. Sources: Literature for-review tags were added to gene: TINF2. Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TINF2 were set to 18252230; 21477109; 25067791; 28095086; 28866069; 29749240; 30478948 Phenotypes for gene: TINF2 were set to Revesz syndrome, 268130 Review for gene: TINF2 was set to GREEN Added comment: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings. Sources: Literature |
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