Unexplained young onset end-stage renal disease
Gene: TMEM216
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, 11:54 p.m. | Last Modified: 11 Nov 2019, 11:54 p.m.
Panel Version: 0.153
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: Syndromic, not relevant for this panel.Created: 10 May 2016, 12:43 p.m.
No current test experience but this gene is on the list for an extended panel.
Created: 26 Oct 2015, 3:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel-Gruber type 2; Jouberts syndrome type 2
Publications
Gene: tmem216 has been classified as Green List (High Evidence).
Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM216 were set to
Phenotypes for gene: TMEM216 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 2 608091; Meckel syndrome 2 603194
gene: TMEM216 was added gene: TMEM216 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM216 was set to Unknown Phenotypes for gene: TMEM216 were set to Ciliopathy genes associated with cystic kidney disease