Congenital adrenal hypoplasiaGene: SGPL1
As a result of watchlist tag audit the watchlist tag was removed from SGPL1- this is now a green gene.
Created: 13 Jan 2020, 11:36 a.m. | Last Modified: 13 Jan 2020, 11:36 a.m.
Panel Version: 2.0
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 1:51 p.m.
Comment on list classification: Gene suggested to Ellen Thomas by an expert in this disease area. Promoted to Green as there are >5 families reported with different biallelic variants, and mice model evidence (see publications).
Created: 15 Dec 2017, 9:31 a.m.
Tag watchlist was removed from gene: SGPL1.
This gene has been classified as Green List (High Evidence).
SGPL1 was added to Congenital adrenal hypoplasia panel. Sources: Expert list
SGPL1 was created by Ellen Thomas