Ductal plate malformation
Gene: TMEM67EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
2 reviews
Bill Griffiths (Cambridge University Hospitals)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital hepatic fibrosis
Publications
- PMID: 19058225
Ivone Leong (Genomics England Curator)
Comment when marking as ready: TMEM67 is a disease causing gene of Meckel syndrome and causes congenital hepatic malformations and fibrosis, which is a phenotype of ductal plate malformation.Created: 26 Nov 2018, 2:25 p.m.
Comment on publications: There are >3 unrelated cases of variants in TMEM67 causing congenital hepatic malformations.Created: 26 Nov 2018, 2:24 p.m.
TMEM67 also causes COACH syndrome (609884), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis, which is a phenotype of ductal plate malformation.Created: 13 Nov 2018, 10:23 a.m.
Green gene on Rare ciliopathy panel. It is a confirmed gene for Meckel syndrome on Gene2PhenotypeCreated: 12 Nov 2018, 1:55 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Meckel syndrome 3 (607361)
- Nephronophthisis 11 (613550)
- Joubert syndrome 6 (310688)
- {Bardet-Biedl syndrome 14, modifier of} (615991)
- COACH syndrome (216360)
- congenital hepatic fibrosis
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Renal ciliopathies
- Limb disorders
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Green gene on Rare ciliopathy
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tmem67 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TMEM67 were set to 19058225
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tmem67 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TMEM67 were changed from Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360) to Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360); congenital hepatic fibrosis
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TMEM67 were set to
Added New Source
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to TMEM67.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TMEM67 was added gene: TMEM67 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360)