Differences in sex development
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
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from amber to green. There was agreement to promote to green because experts in paediatric endocrinology agreed that ambiguous genitalia may be the presenting feature in some cases, and an early diagnosis may significantly reduce the chance of adverse clinical outcomesCreated: 30 Apr 2019, 1:16 p.m.
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. Single paper with 3 cases reported.Created: 18 Sep 2017, 9:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome 14 617575
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- 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
30 Apr 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sgpl1 has been classified as Green List (High Evidence).
18 Sep 2017, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate 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 Disorders of sex developmentpanel. Sources: Literature