Neurological ciliopathies
Gene: TMEM67Addressed 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
216360; 607361; 613550; 610688
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
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
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.
Comment when marking as ready: OMIM: potential modifierCreated: 17 Dec 2015, 2:13 p.m.
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