Proteinuria
Gene: SGPL1

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

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

From Gene Reviews: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy.

Steroid-resistant nephrotic syndrome (37/46), Immunodeficiency (31/46), Primary adrenal insufficiency (31/46), cryptorchidism and/or micropenis (6/26), Developmental delay (9/46), Regression/progressive neurologic involvement (6/46), Peripheral motor & sensory neuropathy (5/46). Other symptoms include ichthyosis, SNHL, Hypothyroidism, nonimmune fetal hydrops.
Created: 5 Jan 2022, 12:12 a.m. | Last Modified: 5 Jan 2022, 12:12 a.m.

Panel Version: 0.10475

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575

Publications

33074640

Created: 5 Jan 2022, 12:12 a.m.
Last Modified: 5 Jan 2022, 12:12 a.m.
Panel version: Imported from Mendeliome panel version 0.10475

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over ten families reported.
Created: 10 Apr 2020, 12:47 a.m. | Last Modified: 10 Apr 2020, 12:47 a.m.

Panel Version: 0.106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 14, MIM# 617575

Publications

Created: 10 Apr 2020, 12:47 a.m.
Last Modified: 10 Apr 2020, 12:47 a.m.
Panel version: 0.106

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

RENI syndrome (MIM#617575)

OMIM

603729

Clinvar variants

Variants in SGPL1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: SGPL1 were changed from RENI syndrome (MIM#617575) to RENI syndrome (MIM#617575)

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to RENI syndrome (MIM#617575)

10 Apr 2020, Gel status: 3