Cholestasis

Gene: SMPD1

Green List (high evidence)

PMID: 27198631 reviewed the cause of death in 85 patients with Niemann-Pick B and B variant. Of these, 27 were newly reported and 58 were abstracted from the literature. Common disease-related morbidities included splenomegaly (97%), hepatomegaly (91%), liver dysfunction (83%), and pulmonary disease (75%).
Niemann Pick B associated with liver involvement
PMID: 31811098 Hepatic involvement in NPD is underestimated. It can presents as asymptomatic elevation of liver enzymes or acute liver failure or chronic liver disease with cirrhosis
Therefore if accepting overlapping phenotype of acute liver failure ok to rate as green

Created: 20 Jan 2022, 2:09 p.m. | Last Modified: 20 Jan 2022, 2:09 p.m.

Panel Version: 1.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann Pick disease A; Niemann Pick disease B

Publications

• PMID: 27198631
• 31811098

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.

Panel Version: 1.105

This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.

Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.

Panel Version: 1.74