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Limb disorders

Gene: CC2D2A

No list

CC2D2A (coiled-coil and C2 domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:43 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. At least four variants reported in this phenotype.
Created: 11 Jul 2016, 12:19 p.m.
Comment on phenotypes: Variants also reported in COACH syndrome 216360; Joubert syndrome 9 612285, but not relevant to this panel
Created: 11 Jul 2016, 12:18 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome 216360; Joubert syndrome 9 612285; Meckel syndrome 6 612284

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cc2d2a has been removed from the panel.

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cc2d2a has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CC2D2A. Panel: Limb disorders Phenotypes for gene CC2D2A were set to Meckel syndrome 6, 612284, Polydactyly

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CC2D2A were set to Meckel syndrome 6, 612284

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to CC2D2A. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to CC2D2A. Panel: Limb disorders Expert list was added to CC2D2A. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to CC2D2A. Panel: Limb disorders UKGTN was added to CC2D2A. Panel: Limb disorders Emory Genetics Laboratory was added to CC2D2A. Panel: Limb disorders Model of inheritance for gene CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene CC2D2A was set to ['18513680', '24706459', '23351400']

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to CC2D2A. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CC2D2A was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CC2D2A was created by Ellen McDonagh