Disorders of sex development

Gene: SGPL1

Green List (high evidence)

SGPL1 (sphingosine-1-phosphate lyase 1)
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 13 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 outcomes
Created: 30 Apr 2019, 1:16 p.m.

Sarah Leigh (Genomics England Curator)

I don't know

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

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