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 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