Cystic kidney disease
Gene: TMEM67
TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
2 reviews
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
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- Complete
- Panels with this gene
-
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Renal ciliopathies
- Limb disorders
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Fetal anomalies
- Ocular coloboma
History Filter Activity
10 May 2016, Gel status: 4
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for TMEM67 was changed to BIALLELIC, autosomal or pseudoautosomal
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM67 was added to Cystic kidney diseasepanel. Sources: Expert