Limb disorders
Gene: CC2D2AEnsemblGeneIds (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 panelCreated: 11 Jul 2016, 12:18 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Meckel syndrome 6, 612284
- Polydactyly
- Tags
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Cholestasis
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Clefting
- COVID-19 research
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CC2D2A.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cc2d2a has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cc2d2a has been removed from the panel.
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)
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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CC2D2A were set to Meckel syndrome 6, 612284
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']
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to CC2D2A. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)CC2D2A was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)CC2D2A was created by Ellen McDonagh