Limb disorders
Gene: TMEM67Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.Created: 25 Nov 2019, 10:04 p.m. | Last Modified: 25 Nov 2019, 10:04 p.m.
Panel Version: 1.100
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:13 p.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 2:05 p.m.
Comment on phenotypes: Variants also reported in Nephronophthisis 11 613550, which is not relevant to this panelCreated: 12 Jul 2016, 2:04 p.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome 216360; Joubert syndrome 6 610688; Meckel syndrome 3 607361; Nephronophthisis 11 613550; {Bardet-Biedl syndrome 14, modifier of} 615991
Variants in this GENE are reported as part of current diagnostic practice
Gene: tmem67 has been classified as Green List (High Evidence).
Ana Beleza: Tier 2
Gene: tmem67 has been removed from the panel.
Gene: tmem67 has been removed from the panel.
Source Expert Review Removed was added to TMEM67. Rating Changed from Green List (high evidence) to No List (delete)
Victorian Clinical Genetics Services was added to TMEM67. Panel: Limb disorders Phenotypes for gene TMEM67 were set to COACH syndrome 216360, Joubert syndrome 6 610688, Meckel syndrome 3 607361, {Bardet-Biedl syndrome 14, modifier of} 615991, Polydactyly
Illumina TruGenome Clinical Sequencing Services was added to TMEM67. Panel: Limb disorders Expert list was added to TMEM67. Panel: Limb disorders Emory Genetics Laboratory was added to TMEM67. Panel: Limb disorders Expert Review Green was added to TMEM67. Panel: Limb disorders UKGTN was added to TMEM67. Panel: Limb disorders Model of inheritance for gene TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to TMEM67. Panel: Limb disorders
TMEM67 was added to Limb disorders panel. Sources: Viapath
TMEM67 was created by Ellen McDonagh