Genomics England

SGPL1

sphingosine-1-phosphate lyase 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Congenital adrenal hypoplasia R-numbers: R150 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Adrenal insufficiency, steroid resistant nephrotic syndrome, neurological deficit, ichthyosis
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephrotic syndrome 14 617575
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fetal hydrops, Nephrotic syndrome type 14, 617575
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephrotic syndrome 14 617575
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephrotic syndrome 14 617575
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephrotic syndrome 14, 617575, drenal insufficiency, steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, lymphopenia
Green in Proteinuric renal disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R195 Signed-off version 4.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephrotic syndrome 14 617575