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Ciliopathies v0.429 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Ciliopathies v0.429 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Ciliopathies v0.429 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Ciliopathies v0.428 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Ciliopathies v0.427 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.426 TMEM67 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and nephronophthisis. Multiple families with each.
Ciliopathies v0.426 TMEM67 Zornitza Stark edited their review of gene: TMEM67: Changed phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360
Ciliopathies v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM67 was set to Unknown