| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital hypothyroidism v0.110 | SGPL1 | Chirag Patel Marked gene: SGPL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.110 | SGPL1 | Chirag Patel Gene: sgpl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.110 | SGPL1 | Chirag Patel Publications for gene: SGPL1 were set to 33074640 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.109 | SGPL1 | Chirag Patel reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35904228, 35748945, 32322566, 28165343, 38204317; Phenotypes: Sphingosine phosphate lyase insufficiency syndrome (SPLIS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.109 | Chirag Patel Copied gene SGPL1 from panel Adrenal insufficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.109 | SGPL1 |
Chirag Patel gene: SGPL1 was added gene: SGPL1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services 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 RENI syndrome (MIM#617575) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||