Hydrops fetalis
Gene: SGPL1EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 12 panels
2 reviews
Seb Lunke (Victorian Clinical Genetics Services)
Nonimmune fetal hydrops and pregancy loss described in several cases, likely secondary to nephrotic syndrome.
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.Created: 5 Jan 2022, 12:18 a.m. | Last Modified: 5 Jan 2022, 12:18 a.m.
Panel Version: 0.216
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Can present with hydrops antenatally.
Sources: Expert listCreated: 30 Dec 2019, 7:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 14, MIM# 617575
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Sphingosine Phosphate Lyase Insufficiency Syndrome
- RENI syndrome (MIM#617575)
- OMIM
- 603729
- Clinvar variants
- Variants in SGPL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Fetal anomalies
- Prepair 1000+
- Hereditary Neuropathy - complex
- Proteinuria
- Mendeliome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
History Filter Activity
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575) to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: SGPL1 were set to 28165343
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sgpl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sgpl1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SGPL1 was added gene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGPL1 were set to 28165343 Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575 Review for gene: SGPL1 was set to GREEN