Unexplained young onset end-stage renal disease
Gene: C5orf42
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, 11:21 p.m. | Last Modified: 11 Nov 2019, 11:21 p.m.
Panel Version: 0.103
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1Created: 21 Mar 2018, 12:28 p.m.
Comment on list classification: Joubert gene - not including syndromic conditions in this panel.Created: 10 May 2016, 10:09 a.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 10:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jouberts type 17
Publications
Gene: c5orf42 has been classified as Green List (High Evidence).
Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C5orf42 were set to
Phenotypes for gene: C5orf42 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 17 614615
Tag new-gene-name tag was added to gene: C5orf42.
gene: C5orf42 was added gene: C5orf42 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: C5orf42 was set to Unknown Phenotypes for gene: C5orf42 were set to Ciliopathy genes associated with cystic kidney disease