Renal and urinary tract disorders
Gene: TMEM67EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 5 Aug 2016, 11:58 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Can cause non-syndromic nephronophthisis.Created: 10 May 2016, 12:50 p.m.
Miranda Durkie (Genetics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- 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
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- None
- Publications
-
- {Bardet-Biedl syndrome 14, modifier of}
- 613550
- Panels with this gene
-
- Cholestasis
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Bardet Biedl syndrome
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Retinal disorders
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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