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Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Marked gene: TMEM67 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Added comment: Comment on publications: There are >3 reported cases of variants in TMEM67 causing congenital hepatic malformations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Publications for gene: TMEM67 were set to 19058225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.49 | TMEM67 | Ivone Leong Marked gene: TMEM67 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.49 | TMEM67 | Ivone Leong Added comment: Comment when marking as ready: TMEM67 is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.49 | TMEM67 | Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.49 | TMEM67 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.48 | TMEM67 | Ivone Leong Publications for gene: TMEM67 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | TMEM67 | Bill Griffiths reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19058225; Phenotypes: congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.28 | TMEM67 | Ivone Leong commented on gene: TMEM67: TMEM67 also causes COACH syndrome (609884), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | TMEM67 | Ivone Leong Source Expert Review Green was added to TMEM67. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | TMEM67 | Ivone Leong reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.2 | TMEM67 |
Ivone Leong 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) |