BabyScreen+ newborn screening

Gene: NPC2

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestatic jaundice in infancy; gaze palsy; ID; dystonia; progressive

Publications

• PMID: 29625568
• PMID: 30732631

Green List (high evidence)

For review: check treatment is available locally

Created: 6 Oct 2022, 2:54 a.m. | Last Modified: 6 Oct 2022, 2:54 a.m.

Panel Version: 0.451

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann Pick C2, OMIM 607625

Green List (high evidence)

Gene-disease association: strong. Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (607623), referred to as type C1 (257220); 5% are caused by mutations in the NPC2 gene

Severity: severe

Age of onset: infant

Non-molecular confirmatory testing: yes, oxysterol analysis

Treatment: Treatment with miglustat, approved for the management of neurologic manifestations of NPC in several countries but not the United States, has increased survival by five years from date of diagnosis or approximately ten years from onset of neurologic manifestations. Green for this reason

Created: 5 Oct 2022, 1:06 a.m. | Last Modified: 5 Oct 2022, 1:06 a.m.

Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-pick disease, type C2

Publications

• PMID: 29625568