Bardet Biedl syndrome

Gene: TMEM67

Green List (high evidence)

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 28 panels

5 reviews

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
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

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

Publications

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

15 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: TMEM67 was added gene: TMEM67 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to {Bardet-Biedl syndrome 14, modifier of}, 615991