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 1.8	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 0.324	review	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 1.2374	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 0.229 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	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 1.213	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 1.115 Component of the following Super Panels: Immunological disorders_SuperPanel	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 1.83	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 1.19 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	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 0.109	review	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 1.314	review	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 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes RENI syndrome (MIM#617575)
Green SGPL1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 14 MIM#617575 Tags treatable endocrine