Disorders of sex developmentGene: SGPL1
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.
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
Nephrotic syndrome 14 617575
Gene: sgpl1 has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SGPL1 was created by sleigh
SGPL1 was added to Disorders of sex developmentpanel. Sources: Literature