Rare multisystem ciliopathy disorders
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
-
- Eligibility statement prior genetic testing
- Other
- Orphanet
- Expert Review Green
- Expert list
- Phenotypes
-
- Meckel-Gruber syndrome
- Joubert syndrome
- COACH syndrome
- nephronophthisis
- ?Bardet-Biedl syndrome?
- 216360
- 607361
- 613550
- 610688
- Meckel syndrome
- Senior-Boichis syndrome
- Nephronophthisis 11
- Joubert syndrome 6
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Cholestasis
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- 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
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)TMEM67 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM67 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM67 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TMEM67 were set to Meckel-Gruber syndrome; Joubert syndrome; COACH syndrome; nephronophthisis; ?Bardet-Biedl syndrome?;216360; 607361; 613550; 610688
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TMEM67 were set to PMID: 16415887; PMID: 17160906; PMID: 19058225; PMID: 19508969; PMID: 18327255; PMID: 20607301
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM67 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TMEM67 was created by ellenmcdonagh