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Unexplained young onset end-stage renal disease v0.2 TMEM67 Eleanor Williams reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 TMEM67 Eleanor Williams gene: TMEM67 was added
gene: TMEM67 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to {Bardet-Biedl syndrome 14, modifier of}; 613550
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 610688; Nephronophthisis 11 613550; Meckel syndrome 3 607361; Ciliopathy genes associated with cystic kidney disease; {Bardet-Biedl syndrome 14, modifier of} 615991; COACH syndrome 216360