SGPL1

sphingosine-1-phosphate lyase 1
OMIM: 603729
PanelMode of inheritanceDetails
8 panels
R-numbers: R150
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adrenal insufficiency, steroid resistant nephrotic syndrome, neurological deficit, ichthyosis
R-numbers: R146
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome 14 617575
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal hydrops, Nephrotic syndrome type 14, 617575
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome 14 617575
R-numbers: R67
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome 14 617575
R-numbers: R15
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome 14, 617575, drenal insufficiency, steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, lymphopenia
R-numbers: R195
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome 14 617575
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome 14 617575