Limb disorders
Gene: CC2D2AComment 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.
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.
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
Tag curated_removed tag was added to gene: CC2D2A.
Ana Beleza: Tier 2
Gene: cc2d2a has been removed from the panel.
Gene: cc2d2a has been removed from the panel.
Source Expert Review Removed was added to CC2D2A. Rating Changed from Green List (high evidence) to No List (delete)
Victorian Clinical Genetics Services was added to CC2D2A. Panel: Limb disorders Phenotypes for gene CC2D2A were set to Meckel syndrome 6, 612284, Polydactyly
Phenotypes for CC2D2A were set to Meckel syndrome 6, 612284
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']
London South East RGC GSTT was added to CC2D2A. Panel: Limb disorders
CC2D2A was added to Limb disorders panel. Sources: Viapath
CC2D2A was created by Ellen McDonagh