1. Panels
  2. Renal and urinary tract disorders
  3. SGPL1
STRs in panel
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Renal and urinary tract disorders

Gene: SGPL1

Green List (high evidence)
SGPL1 (sphingosine-1-phosphate lyase 1)
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 8 variants reported in at least 8 families from different populations. Supporting functional studies also presented.
Created: 18 Sep 2017, 9:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome 14 617575

Publications

Created: 18 Sep 2017, 9:29 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 1.4

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome 14 to Nephrotic syndrome 14 617575

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SGPL1 was added gene: SGPL1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGPL1 were set to 28165339; 28165343; 28181337 Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14