Cholestasis
Gene: SMPD1
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 greenCreated: 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
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
Tag for-review was removed from gene: SMPD1. Tag Q1_22_NHS_review was removed from gene: SMPD1.
Source Expert Review Green was added to SMPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: SMPD1.
Tag for-review tag was added to gene: SMPD1.
gene: SMPD1 was added gene: SMPD1 was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, OMIM:257200, MONDO:0009756