Unexplained kidney failure in young people
Gene: TMEM67Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 5 Aug 2016, 11:58 a.m.
Phenotypes for gene: TMEM67 were changed from COACH syndrome 216360; Joubert syndrome 6 610688; Meckel syndrome 3 607361; Nephronophthisis 11 613550; {Bardet-Biedl syndrome 14, modifier of} 615991 to COACH syndrome 216360; Joubert syndrome 6 610688; Meckel syndrome 3 607361; Nephronophthisis 11 613550; {Bardet-Biedl syndrome 14, modifier of} 615991
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TMEM67 were set to COACH syndrome 216360; Joubert syndrome 6 610688; Meckel syndrome 3 607361; Nephronophthisis 11 613550; {Bardet-Biedl syndrome 14, modifier of} 615991
TMEM67 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Phenotypes for TMEM67 were set to Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 6 610688; Meckel syndrome 3 607361; Nephronophthisis 11 613550; {Bardet-Biedl syndrome 14, modifier of} 615991
TMEM67 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green
TMEM67 was created by sleigh