Polycystic liver disease
Gene: TMEM67
TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
1 review
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.Created: 12 Mar 2019, 1:36 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Joubert syndrome 6 (310688)
- {Bardet-Biedl syndrome 14, modifier of} (615991)
- Meckel syndrome 3 (607361)
- Nephronophthisis 11 (613550)
- congenital hepatic fibrosis
- COACH syndrome (216360)
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Cholestasis
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal dysplasia
- Retinal disorders
- Ocular coloboma
- Structural eye disease
- Familial Neural Tube Defects
- Ductal plate malformation
- Bardet Biedl syndrome
- Neurological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Fetal anomalies
History Filter Activity
12 Mar 2019, Gel status: 1
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tmem67 has been classified as Red List (Low Evidence).
12 Mar 2019, Gel status: 1
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 Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to 16415887; 28680603; 19058225; 26191240 Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); congenital hepatic fibrosis; COACH syndrome (216360)