Limb disorders
Gene: TMEM67EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment 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.
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- COACH syndrome 216360
- Joubert syndrome 6 610688
- Meckel syndrome 3 607361
- {Bardet-Biedl syndrome 14, modifier of} 615991
- Polydactyly
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- None
- Panels with this gene
-
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Familial Neural Tube Defects
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: tmem67 has been classified as Green List (High Evidence).
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: tmem67 has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: tmem67 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to TMEM67. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)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
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to TMEM67. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM67 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)TMEM67 was created by Ellen McDonagh