Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Structural eye disease v0.76 TMEM231 Nicola Ragge reviewed gene: TMEM231: Rating: RED; Mode of pathogenicity: ; Publications: 23012439, 23349226; Phenotypes: Joubert syndrome 20, Meckel syndrome 11, 614970, 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.48 TMEM231 Ivone Leong edited their review of gene: TMEM231: Changed phenotypes: Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
Structural eye disease v0.38 TMEM231 Ivone Leong reviewed gene: TMEM231: Rating: RED; Mode of pathogenicity: ; Publications: 23012439, 23349226; Phenotypes: Joubert syndrome 14, 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.15 TMEM231 Ivone Leong 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
Structural eye disease v0.2 TMEM231 Ellen McDonagh 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