Activity
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Fetal anomalies v1.272 | SGPL1 | Ain Roesley 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1812 | SGPL1 | Seb Lunke Marked gene: SGPL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1812 | SGPL1 | Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1812 | SGPL1 | Seb Lunke Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome type 14, 617575; Fetal hydrops to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1811 | SGPL1 | Seb Lunke Publications for gene: SGPL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1808 | SGPL1 | Seb Lunke reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome, Nephrotic syndrome, type 14, MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | SGPL1 |
Zornitza Stark gene: SGPL1 was added gene: SGPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGPL1 were set to Nephrotic syndrome type 14, 617575; Fetal hydrops |