Retinal disorders
Gene: TINF2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.Created: 12 Oct 2020, 12:23 p.m. | Last Modified: 12 Oct 2020, 12:23 p.m.
Panel Version: 2.19
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: LiteratureCreated: 12 Oct 2020, 12:21 p.m. | Last Modified: 12 Oct 2020, 12:22 p.m.
Panel Version: 2.18
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Revesz syndrome, 268130
Publications
Tag for-review was removed from gene: TINF2.
Source Expert Review Green was added to TINF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: TINF2 were set to 18252230; 21477109; 25067791; 28095086; 28866069; 29749240; 30478948
Gene: tinf2 has been classified as Amber List (Moderate Evidence).
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