BabyScreen+ newborn screening

Gene: NEK8

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal-hepatic-pancreatic dysplasia 2, MIM# 615415

Red List (low evidence)

Gene-disease association: strong but very rare. RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude

Created: 4 Oct 2022, 9:53 p.m. | Last Modified: 4 Oct 2022, 9:53 p.m.

Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal-hepatic-pancreatic dysplasia 2