Ductal plate malformation
Gene: CC2D2AEnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels
2 reviews
Bill Griffiths (Cambridge University Hospitals)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital hepatic fibrosis
Publications
- PMID: 19574260
Ivone Leong (Genomics England Curator)
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.
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
-
- Joubert syndrome 9 (612285)
- Meckel syndrome 6 (612284)
- COACH syndrome (216360)
- congenital hepatic fibrosis
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinal disorders
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Cholestasis
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- COVID-19 research
- Clefting
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Comment on list classification
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cc2d2a has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CC2D2A were set to 18513680; 19574260; 22246503
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cc2d2a has been classified as Green List (High Evidence).
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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CC2D2A were set to
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cc2d2a has been classified as Green List (High Evidence).
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)
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)