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Prepair 1000+

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

RENI syndrome (RENI) is an autosomal recessive form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS), resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder may include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects. In rare cases, patients present with isolated primary adrenal insufficiency
Created: 5 Oct 2024, 1:53 a.m. | Last Modified: 5 Oct 2024, 1:53 a.m.
Panel Version: 1.384

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RENI syndrome MIM#617575

Publications

Created: 5 Oct 2024, 1:53 a.m.
Last Modified: 5 Oct 2024, 1:53 a.m.
Panel version: 1.384

History Filter Activity

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: sgpl1 has been classified as Green List (High Evidence).

5 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SGPL1 were set to

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome 14, 617575 (3), Autosomal recessive to RENI syndrome (MIM#617575)

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SGPL1 was added gene: SGPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14, 617575 (3), Autosomal recessive