Structural eye disease
Gene: TCTN3
Wang: knockout mice have microphthalmia, otherwise only reported in Joubert syndrome cases without colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 18; Orofaciodigital syndrome IV; 614815; 258860
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Wang: knockout mice have microphthalmia, otherwise only reported in Joubert syndrome cases without colobomaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860
Publications
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
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