Structural eye disease
Gene: TMEM231
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20; Meckel syndrome 11; 614970; 615397
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20, 614970; Meckel syndrome 11, 615397
Publications
Source NHS GMS was added to TMEM231. Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231 Publications for gene TMEM231 were changed from 23012439; 23349226 to 23349226; 23012439
gene: TMEM231 was added gene: TMEM231 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM231 were set to 23012439; 23349226 Phenotypes for gene: TMEM231 were set to Joubert syndrome; Meckel-Gruber syndrome