Neonatal cholestasis

Gene: NPC2

Comment when marking as ready: Sufficient evidence to rate as green.

Created: 25 Jul 2018, 10:25 a.m.

Comment on list classification: More than 3 unrelated cases with plausible disease-causing mutations.

Created: 25 Jul 2018, 10:24 a.m.

Comment on phenotypes: Added MIM number to Niemann-Pick disease type C2

Created: 25 Jul 2018, 10:22 a.m.

Comment on publications: Added publications related to cases.

Created: 25 Jul 2018, 10:22 a.m.

In OMIM and Gene2phenotype NCP2 (also known as HE1) is associated with Niemann-pick disease, type C2. OMIM report that Naureckiene et al. (2000) (PMID: 11125141) identified homozygous mutations in the HE1 gene in 2 patients with Niemann-Pick disease type C. Park et al. (2003) (PMID: 12955717) identified 7 different mutations in the NPC2 gene as the basis of Niemann-Pick disease type C and Verot et al. (2007) (PMID: 17470133) identified 5 different mutations in the NPC2 gene in 6 unrelated patients with NPC2. Millat et al. (2001) (PMID: 11567215) reported the first comprehensive study of 8 unrelated families with NPC2 and among these patients 5 different mutations were identified, all with a severe impact on the protein.

Created: 25 Jul 2018, 10:21 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; Niemann Pick C

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

All types of variants reported;
Only 2 carriers identified in 205 patients tested (MLPA has also been performed)

Created: 4 Jun 2018, 1:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-Pick disease

Variants in this GENE are reported as part of current diagnostic practice