| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebellar and Pontocerebellar Hypoplasia v0.39 | TINF2 | Zornitza Stark Marked gene: TINF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.39 | TINF2 | Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.39 | TINF2 | Zornitza Stark Classified gene: TINF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.39 | TINF2 | Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.32 | TINF2 |
Crystle Lee gene: TINF2 was added gene: TINF2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TINF2 were set to 18252230; 18979121; 18669893; 21477109 Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (MIM#613990); Revesz syndrome (MIM#268130) Review for gene: TINF2 was set to GREEN Added comment: Cerebellar hypoplasia is reported but not a consistent feature. Commonly associated with specific variants reported to cause dyskeratosis congenita and features of Hoyeraal-Hreidarsson and Revesz syndrome. The variants in patients with HH and/or RS are clustered at aa 280, 282, and 283 (Walne 2008) PMID: 18252230; Savage 2008: Cerebellar hypoplasia reported one proband diagnosed with dyskeratosis congenita and Revesz syndrome. Same missense, R282H, reported in 2 other individuals who did not have cerebellar hypoplasia PMID: 18979121; Tsangaris 2008: 1 proband with the same R282H reported. Cerebellar hypoplasia noted. PMID: 18669893; Walne 2008: Cerebellar hypoplasia reported in 1 of 14 patients with R282H PMID: 21477109; Sasa 2013: Cerebellar hypoplasia reported in 1 patient, p.(K280RfsX36). PanelApp UK: "Variable cerebellar hypoplasia seen in this condition" Green Sources: Expert Review |
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