Ductal plate malformation
Gene: TMEM67
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital hepatic fibrosis
Publications
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.
Ivone Leong: Green gene on Rare ciliopathy
Gene: tmem67 has been classified as Green List (High Evidence).
Publications for gene: TMEM67 were set to 19058225
Gene: tmem67 has been classified as Green List (High Evidence).
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
Publications for gene: TMEM67 were set to
Source Expert Review Green was added to TMEM67.
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)