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Mendeliome v0.6924 | TMEM231 | Zornitza Stark Marked gene: TMEM231 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6924 | TMEM231 | Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6924 | TMEM231 | Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6923 | TMEM231 | Zornitza Stark Publications for gene: TMEM231 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6922 | TMEM231 | Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6921 | TMEM231 | Zornitza Stark changed review comment from: Two families described with the Joubert phenotype, severely affected, not ambulant.; to: More than 3 unrelated families reported with each phenotype, functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6921 | TMEM231 | Zornitza Stark edited their review of gene: TMEM231: Changed rating: GREEN; Changed publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Changed phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.0 | TMEM231 |
Zornitza Stark gene: TMEM231 was added gene: TMEM231 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM231 was set to Unknown |