Unexplained young onset end-stage renal disease
Gene: PDSS2
This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/PDSS2/).Created: 10 Jan 2024, 7:31 p.m. | Last Modified: 11 Jan 2024, 11:14 a.m.
Panel Version: 3.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 3, OMIM:614652; Leigh syndrome, MONDO:0009723
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3, OMIM:614652; Leigh syndrome, MONDO:0009723
Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag Q4_23_promote_green tag was added to gene: PDSS2.
gene: PDSS2 was added gene: PDSS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: PDSS2 was set to Unknown