Unexplained young onset end-stage renal disease
Gene: CC2D2A
Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/Created: 11 Nov 2019, 11:23 p.m. | Last Modified: 11 Nov 2019, 11:23 p.m.
Panel Version: 0.107
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Comment on list classification: Joubert gene - not including syndromic conditions in this panel.Created: 10 May 2016, 10:10 a.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel-Gruber type 6; Jouberts syndrome type 9
Publications
Gene: cc2d2a has been classified as Green List (High Evidence).
Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to
Phenotypes for gene: CC2D2A were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 9 612285; Meckel syndrome 6 612284
gene: CC2D2A was added gene: CC2D2A was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: CC2D2A was set to Unknown Phenotypes for gene: CC2D2A were set to Ciliopathy genes associated with cystic kidney disease