Unexplained young onset end-stage renal disease
Gene: AHI1
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, 10:50 p.m. | Last Modified: 11 Nov 2019, 10:50 p.m.
Panel Version: 0.57
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 on this panel.Created: 10 May 2016, 9:51 a.m.
No current test experience but this gene is on the list for an extended panel.Created: 22 Oct 2015, 10:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jouberts syndrome type 3
Publications
Publications for gene: AHI1 were set to
Gene: ahi1 has been classified as Green List (High Evidence).
gene: AHI1 was added gene: AHI1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome-3 608629