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Structural eye disease v0.76 | TCTN3 | Nicola Ragge reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: 25118024, 29725084; Phenotypes: Joubert syndrome 18, Orofaciodigital syndrome IV, 614815, 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | TCTN3 | Ivone Leong edited their review of gene: TCTN3: Changed phenotypes: Joubert syndrome 18, 614815, Orofaciodigital syndrome IV, 258860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | TCTN3 | Ivone Leong reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: 25118024, 29725084; Phenotypes: Microphthalmia, isolated, with coloboma 9, 615145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | TCTN3 |
Ivone Leong Source NHS GMS was added to TCTN3. Added phenotypes Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860 for gene: TCTN3 Publications for gene TCTN3 were changed from 25118024 to 29725084; 25118024 |
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Structural eye disease v0.2 | TCTN3 |
Ellen McDonagh gene: TCTN3 was added gene: TCTN3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 25118024 Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV |