BabyScreen+ newborn screening

Gene: NPC1

Green List (high evidence)

Gene-disease association: strong. Niemann-Pick typeC


Severity: variable, but is often severe


Age of onset: infantile - adulthood; most commonly in early childhood


Non-molecular confirmatory testing: yes, oxysterol measurement;


Treatment: miglustat, intrathecal cyclodextrin

Created: 1 Nov 2022, 5:21 a.m. | Last Modified: 1 Nov 2022, 5:21 a.m.

Panel Version: 0.719

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hepatosplenomegaly; cholestatic jaundice; gaze palsy; ID; dystonia; dementia

Publications

• PMID: 29625568
• PMID: 30732631

Green List (high evidence)

For review: check treatment available locally. Done.

Created: 6 Oct 2022, 2:53 a.m. | Last Modified: 2 Nov 2022, 6:05 a.m.

Panel Version: 0.721

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-Pick disease, MIM# 257220

Green List (high evidence)

Gene-disease association: strong. Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations.

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. I am making green for this reason, but may be questionable.

Created: 5 Oct 2022, 1:03 a.m. | Last Modified: 5 Oct 2022, 1:03 a.m.

Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-Pick disease, type C, NPC1

Publications

• PMID: 29625568