Unexplained young onset end-stage renal disease
Gene: KIF7
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, 11:31 p.m. | Last Modified: 11 Nov 2019, 11:31 p.m.
Panel Version: 0.119
Comment on mode of inheritance: Acrocallosal syndrome/Joubert syndrome 12 are listed as AR in OMIM.Created: 11 Nov 2019, 11:31 p.m. | Last Modified: 11 Nov 2019, 11:31 p.m.
Panel Version: 0.118
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
May act as modifier. Possible digenic inheritance when found with heterozygous mutation in another gene e.g. CEP41 (Pubmed 22246503)Created: 26 Oct 2015, 5:18 p.m.
Mode of inheritance
Other
Gene: kif7 has been classified as Green List (High Evidence).
Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Acrocallosal syndrome 200990; Joubert syndrome 12 200990
gene: KIF7 was added gene: KIF7 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: KIF7 was set to Unknown Phenotypes for gene: KIF7 were set to Ciliopathy genes associated with cystic kidney disease