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Proteinuria

Gene: PDSS2

Green List (high evidence)
PDSS2 (decaprenyl diphosphate synthase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000164494
EnsemblGeneIds (GRCh37): ENSG00000164494
OMIM: 610564, Gene2Phenotype
PDSS2 is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29032433;
1x but paternal variant is a large deep intronic deletion (NM_020381.3:c.1042_1148-2816del) and RNA studies were not done

PMID: 25349199;
2x from steroid-resistant nephrotic syndrome cohort

PMID:17186472;
1x infant

PMID: 21723727 was cited to have done the molecular for family reported in PMID:10972372 but I was unable to find this information/genotype
Created: 31 Jan 2022, 4:16 a.m. | Last Modified: 31 Jan 2022, 4:16 a.m.
Panel Version: 0.10813

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 3 MIM#614652

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Jan 2022, 4:16 a.m.
Last Modified: 31 Jan 2022, 4:16 a.m.
Panel version: Imported from Mendeliome panel version 0.10813

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDSS2 was added gene: PDSS2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PDSS2 was set to Unknown