Ductal plate malformation
Gene: CC2D2A
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital hepatic fibrosis
Publications
Comment when marking as ready: CC2D2A causes congenital hepatic fibrosis, which is a phenotype of Ductal plate malformationCreated: 26 Nov 2018, 2:37 p.m.
Comment on publications: There are 3 unrelated cases of patients with Meckel syndrome, which also causes hepatic fibrosis, who have variants in the CC2D2A gene.Created: 26 Nov 2018, 2:36 p.m.
Comment on list classification: CC2D2A is a green gene on the Rare multisystem ciliopathy disorder panel (https://panelapp.genomicsengland.co.uk/panels/150/). It has been promoted from grey to green as it causes COACH syndrome (216360), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis.Created: 13 Nov 2018, 10:53 a.m.
Ivone Leong: Comment on list classification
Gene: cc2d2a has been classified as Green List (High Evidence).
Publications for gene: CC2D2A were set to 18513680; 19574260; 22246503
Gene: cc2d2a has been classified as Green List (High Evidence).
Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360) to Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360); congenital hepatic fibrosis
Publications for gene: CC2D2A were set to
Gene: cc2d2a has been classified as Green List (High Evidence).
Source Expert Review Removed was added to CC2D2A. Rating Changed from Green List (high evidence) to No List (delete)
gene: CC2D2A was added gene: CC2D2A 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: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360)