Tubulointerstitial kidney disease
Gene: TMEM67EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:TMEM67;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 11 MIM 613550; ?RHYNS syndrome MIM 602152; COACH syndrome, MIM 216306; ?RHYNS syndrome 602152 AR 3; COACH syndrome 216360 AR 3; Joubert syndrome 6, MIM 610688; Meckel syndrome 3, MIM 607361; {Bardet-Biedl syndrome 14, modifier of} MIM 615991
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- ?RHYNS syndrome MIM 602152
- COACH syndrome 216360 AR 3
- {Bardet-Biedl syndrome 14, modifier of} MIM 615991
- ?RHYNS syndrome 602152 AR 3
- COACH syndrome, MIM 216306
- Joubert syndrome 6, MIM 610688
- Nephronopthisis 11 MIM 613550
- Meckel syndrome 3, MIM 607361
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- None
- Panels with this gene
-
- Cholestasis
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Ocular coloboma
- Structural eye disease
- Familial Neural Tube Defects
- Intellectual disability
- Ductal plate malformation
- Bardet Biedl syndrome
- Neurological ciliopathies
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TMEM67 was added gene: TMEM67 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to ?RHYNS syndrome MIM 602152; COACH syndrome 216360 AR 3; {Bardet-Biedl syndrome 14, modifier of} MIM 615991; ?RHYNS syndrome 602152 AR 3; COACH syndrome, MIM 216306; Joubert syndrome 6, MIM 610688; Nephronopthisis 11 MIM 613550; Meckel syndrome 3, MIM 607361