Unexplained young onset end-stage renal disease
Gene: IQCB1
Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Renal ciliopathies panel. Should be green if NPHP1 is green.Created: 11 Sep 2019, 12:37 p.m. | Last Modified: 11 Sep 2019, 12:37 p.m.
Panel Version: 0.32
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: Senior-Loken syndrome: not including syndromic genes on this panel.Created: 10 May 2016, 10:35 a.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 11:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: iqcb1 has been classified as Green List (High Evidence).
Phenotypes for gene: IQCB1 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Senior-Loken syndrome 5 609254
Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: IQCB1 was added gene: IQCB1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: IQCB1 was set to Unknown Phenotypes for gene: IQCB1 were set to Ciliopathy genes associated with cystic kidney disease