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Intellectual disability

Gene: SGPL1

Green List (high evidence)

SGPL1 (sphingosine-1-phosphate lyase 1)
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 12 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.
Created: 18 Sep 2017, 9:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome 14 617575

Publications

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

18 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SGPL1 was added to Intellectual disabilitypanel. Sources: Literature

18 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SGPL1 was created by sleigh