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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 |
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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 |