| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v1.6 | SGPL1 | Seb Lunke Marked gene: SGPL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.6 | SGPL1 | Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.6 | SGPL1 | Seb Lunke Classified gene: SGPL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.6 | SGPL1 | Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.5 | SGPL1 |
Seb Lunke gene: SGPL1 was added gene: SGPL1 was added to Combined Immunodeficiency. Sources: Expert Review,Literature Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGPL1 were set to 33074640 Phenotypes for gene: SGPL1 were set to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 Review for gene: SGPL1 was set to GREEN gene: SGPL1 was marked as current diagnostic Added comment: From Gene Reviews: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy. Steroid-resistant nephrotic syndrome (37/46), Immunodeficiency (31/46), Primary adrenal insufficiency (31/46), cryptorchidism and/or micropenis (6/26), Developmental delay (9/46), Regression/progressive neurologic involvement (6/46), Peripheral motor & sensory neuropathy (5/46). Other symptoms include ichthyosis, SNHL, Hypothyroidism. Sources: Expert Review, Literature |
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