Ophthalmological ciliopathies

Gene: TMEM67

Green List (high evidence)

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 26 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)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

216360; 607361; 613550; 610688

Gabrielle Wheway (University of the West of England)

Green List (high evidence)

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

Meckel-Gruber syndrome; Joubert syndrome; COACH syndrome; nephronophthisis; ?Bardet-Biedl syndrome?


Penny Clouston (Oxford)

Green List (high evidence)

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 modifier
Created: 17 Dec 2015, 2:13 p.m.

History Filter Activity

8 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TMEM67 was added gene: TMEM67 was added to Ophthalmological ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing,Orphanet Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to 20607301; 17160906; 18327255; 19058225; 19508969; 16415887 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