| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | TCTN2 | Nicola Ragge reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: 21565611, 25118024; Phenotypes: Meckel syndrome 8, Joubert syndrome 24, 613885, 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | TCTN2 | Ivone Leong edited their review of gene: TCTN2: Changed phenotypes: Meckel syndrome 8, 613885, Joubert syndrome 24, 616654 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | TCTN2 | Ivone Leong reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: 21565611, 25118024; Phenotypes: Joubert syndrome 18, 614815, Orofaciodigital syndrome IV, 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | TCTN2 |
Ivone Leong Source NHS GMS was added to TCTN2. Added phenotypes Joubert syndrome 24, 616654; Meckel syndrome 8, 613885 for gene: TCTN2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | TCTN2 |
Ellen McDonagh gene: TCTN2 was added gene: TCTN2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN2 were set to 21565611; 25118024 Phenotypes for gene: TCTN2 were set to Joubert syndrome; Meckel-Gruber syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||