Glaucoma (developmental)

Gene: TCTN3

Red List (low evidence)

Wang: knockout mice have microphthalmia, otherwise only reported in Joubert syndrome cases without coloboma

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 18; Orofaciodigital syndrome IV; 614815; 258860

Publications

• 25118024, 29725084

Red List (low evidence)

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 coloboma

Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860

Publications

• 25118024
• 29725084