Ductal plate malformation

Gene: CC2D2A

Green List (high evidence)

CC2D2A (coiled-coil and C2 domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 31 panels

2 reviews

Bill Griffiths (Cambridge University Hospitals)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital hepatic fibrosis

Publications

Ivone Leong (Genomics England Curator)

Comment when marking as ready: CC2D2A causes congenital hepatic fibrosis, which is a phenotype of Ductal plate malformation
Created: 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.

History Filter Activity

30 Nov 2018, Gel status: 3

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Comment on list classification

26 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cc2d2a has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CC2D2A were set to 18513680; 19574260; 22246503

26 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cc2d2a has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

13 Nov 2018, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CC2D2A were set to

13 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cc2d2a has been classified as Green List (High Evidence).

12 Nov 2018, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to CC2D2A. Rating Changed from Green List (high evidence) to No List (delete)

6 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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)