Neurological ciliopathies
Gene: TMEM67EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
6 reviews
Rebecca Foulger (Genomics England curator)
Addressed the Red review by Beth Hoskins, imported from the retired Bardet-Biedl Syndrome panel: TMEM67 is appropriate for this panel: Multisystem Ciliopathy phenotype plus sufficient cases to support inclusion. Confirmed rating in DDG2P for JOUBERT SYNDROME TYPE 6, MECKEL SYNDROME TYPE 3, NEPHRONOPHTHISIS TYPE 11 and COACH SYNDROM (note typo).Created: 20 Jun 2019, 8:51 p.m. | Last Modified: 20 Jun 2019, 8:51 p.m.
Panel Version: 1.111
Beth Hoskins (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
216360; 607361; 613550; 610688
Gabrielle Wheway (University of the West of England)
Complete loss of function mutations associated with Meckel-Gruber syndrome and Joubert syndrome. COACH syndrome (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis) general associated with more severe (but not complete loss of function) hypomorphic mutation. Milder hypomorphic mutations associated with nephronophthisis. Possible modifier/contributer to oligogenic inheritance in Bardet-Biedl syndrome (heterozygous mutation found in BBS9 case, 2 mutations found in cis in another BBS case with no mutations in other known BBS genes).Created: 6 Jul 2016, 8:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel-Gruber syndrome; Joubert syndrome; COACH syndrome; nephronophthisis; ?Bardet-Biedl syndrome?
Publications
Penny Clouston (Oxford)
Positives within our diagnostic patient cohort. Evidence in literature.Created: 15 Mar 2016, 10:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Due to expert reviews, should be green on the rare multisystem ciliopathy disorders combined panel.Created: 28 Aug 2016, 9:04 a.m.
Relevant phenotype and mode of inheritance was sourced from OMIM.Created: 8 Jan 2016, 11:36 a.m.
Caroline Wright (Genomics England Curator)
Comment when marking as ready: OMIM: potential modifierCreated: 17 Dec 2015, 2:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Joubert syndrome
- nephronophthisis
- COACH syndrome
- Joubert syndrome 6
- ?Bardet-Biedl syndrome?
- Senior-Boichis syndrome
- 613550
- 607361
- Meckel-Gruber syndrome
- Meckel syndrome
- 610688
- Nephronophthisis 11
- 216360
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Familial Neural Tube Defects
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TMEM67 was added gene: TMEM67 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to PMID: 16415887; PMID: 17160906; PMID: 19058225; PMID: 19508969; PMID: 20607301; PMID: 18327255 Phenotypes for gene: TMEM67 were set to Joubert syndrome; nephronophthisis; COACH syndrome; Joubert syndrome 6; ?Bardet-Biedl syndrome?; Senior-Boichis syndrome; 613550; 607361; Meckel-Gruber syndrome; Meckel syndrome; 610688; Nephronophthisis 11; 216360