BabyScreen+ newborn screening

Gene: SGPL1

Green List (high evidence)

Rated Green due to treatability of adrenal insufficiency component.

Created: 4 Oct 2023, 3:22 a.m. | Last Modified: 4 Oct 2023, 3:22 a.m.

Panel Version: 1.98

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 14 MIM#617575

Red List (low evidence)

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

Created: 23 Mar 2023, 11:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 14 MIM#617575

Publications

• PMID: 28165343