Proteinuric renal disease
Gene: SGPL1
SGPL1 (sphingosine-1-phosphate lyase 1)
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 10 panels
2 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: SGPL1; Suggested initial gene rating: green; Evidence for inclusion: PMID: 28181337; Other comments: Multiple reports in the literatureCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 14 #617575
Publications
- PMID: 28181337
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Nephrotic syndrome 14 617575
- OMIM
- 603729
- Clinvar variants
- Variants in SGPL1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
4 Feb 2019, Gel status: 3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SGPL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
18 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SGPL1 was created by sleigh
18 Sep 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SGPL1 was added to Proteinuric renal diseasepanel. Sources: Literature