Renal and urinary tract disorders
Gene: TMEM67Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 5 Aug 2016, 11:58 a.m.
Comment on list classification: Can cause non-syndromic nephronophthisis.Created: 10 May 2016, 12:50 p.m.
No current test experience but this gene is on the list for an extended panel.
Created: 26 Oct 2015, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel-Gruber type 6; Jouberts syndrome type 3, Nephronophthisis type 11
Publications
Miranda Durkie: No current test experience but
Phenotypes for gene: TMEM67 were changed from Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Nephronophthisis 11; Joubert syndrome 6 610688; Meckel syndrome 3 607361 to Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Nephronophthisis 11 613550; Joubert syndrome 6 610688; Meckel syndrome 3 607361; {Bardet-Biedl syndrome 14, modifier of} 615991
Added phenotypes COACH syndrome 216360; Nephronophthisis 11; Joubert syndrome 6 610688; Meckel syndrome 3 607361 for gene: TMEM67 Publications for gene TMEM67 were changed from to {Bardet-Biedl syndrome 14, modifier of}; 613550
gene: TMEM67 was added gene: TMEM67 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to Ciliopathy genes associated with cystic kidney disease