SGPL1

sphingosine-1-phosphate lyase 1
OMIM: 603729, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SGPL1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes RENI syndrome (MIM#617575)
Green SGPL1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.328	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575)
Green SGPL1 in Mendeliome Version 1.3499	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes RENI syndrome (MIM#617575)
Green SGPL1 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.231 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes RENI syndrome (MIM#617575)
Green SGPL1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes RENI syndrome (MIM#617575)
Green SGPL1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.135 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575)
Green SGPL1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575)
Amber SGPL1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.40 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes RENI syndrome (MIM#617575)
Green SGPL1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome 14, 617575 (3), Autosomal recessive
Green SGPL1 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575)
Green SGPL1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes RENI syndrome (MIM#617575)
Green SGPL1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 14 MIM#617575 Tags treatable endocrine