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| Mendeliome v0.4479 | TNNI2 | Zornitza Stark Marked gene: TNNI2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4479 | TNNI2 | Zornitza Stark Gene: tnni2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4479 | TNNI2 | Zornitza Stark Phenotypes for gene: TNNI2 were changed from to Arthrogryposis, distal, type 2B1 (MIM#601680) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4478 | TNNI2 | Zornitza Stark Publications for gene: TNNI2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4477 | TNNI2 | Zornitza Stark Mode of pathogenicity for gene: TNNI2 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4476 | TNNI2 | Zornitza Stark Mode of inheritance for gene: TNNI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4475 | TNNI2 | Michelle Torres changed review comment from: Only a handful of variants reported, with a cluster of pathogenic missense in the C-terminal (between p.165 and 175). Missense, nonsense (not NMD) and an inframe-deletion have been shown to result in gain of function.; to: Only a handful of variants reported, with a cluster of pathogenic missense in the C-terminal (between p.165 and 175). Missense, nonsense (not NMD) and an inframe-deletion have been shown to result in gain of function (PMIDs: 17194691, 25340332). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4475 | TNNI2 | Michelle Torres reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17194691, 25340332; Phenotypes: Arthrogryposis, distal, type 2B1 (MIM#601680); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TNNI2 |
Zornitza Stark gene: TNNI2 was added gene: TNNI2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNNI2 was set to Unknown |
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