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| BabyScreen+ newborn screening v1.99 | SGPL1 | Zornitza Stark Classified gene: SGPL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.99 | SGPL1 | Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.98 | SGPL1 |
Zornitza Stark Tag renal was removed from gene: SGPL1. Tag treatable tag was added to gene: SGPL1. Tag endocrine tag was added to gene: SGPL1. |
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| BabyScreen+ newborn screening v1.98 | SGPL1 | Zornitza Stark reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 14 MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2078 | SGPL1 | Zornitza Stark Marked gene: SGPL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2078 | SGPL1 | Zornitza Stark Gene: sgpl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2078 | SGPL1 | Zornitza Stark Classified gene: SGPL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2078 | SGPL1 | Zornitza Stark Gene: sgpl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2077 | SGPL1 | Zornitza Stark Tag renal tag was added to gene: SGPL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2063 | SGPL1 |
Lilian Downie gene: SGPL1 was added gene: SGPL1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGPL1 were set to PMID: 28165343 Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 MIM#617575 Review for gene: SGPL1 was set to RED Added comment: infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS), resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects Rx Hydrocortisone, kidney transplant (treatment doesn't fit screening model as would need to have ESRD before you had it?) Sources: Expert list |
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