Neonatal cholestasis

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 29 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for each phenotype. Numerous variants reported in unrelated cases.
Created: 14 Aug 2018, 8:20 a.m.
Comment on phenotypes: All three phenotypes display liver features
Created: 14 Aug 2018, 8:16 a.m.
Comment on phenotypes: Variants also reported in Joubert syndrome 9 612285, but this phenotype is not relevant to the infantile cholestasis panel
Created: 14 Aug 2018, 8:03 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliopathy

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

14 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cc2d2a has been classified as Red List (Low Evidence).

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285

14 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CC2D2A were set to 19574260; 18950740; 27959436

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284

14 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CC2D2A. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CC2D2A was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CC2D2A was created by Ellen McDonagh