Congenital adrenal hypoplasia

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

4 reviews

Louise Daugherty (Genomics England Curator)

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

Ivone Leong (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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.

Ellen Thomas (Genomics England Curator)

Recently discovered gene, consider adding at next review.
Created: 27 Nov 2017, 3:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adrenal insufficiency; steroid resistant nephrotic syndrome; neurological deficit; ichthyosis

Publications

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: SGPL1.

15 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Nov 2017, Gel status: 1

Added New Source

Ellen Thomas (Genomics England Curator)

SGPL1 was added to Congenital adrenal hypoplasia panel. Sources: Expert list

27 Nov 2017, Gel status: 1

Created

Ellen Thomas (Genomics England Curator)

SGPL1 was created by Ellen Thomas