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Cholestasis v1.105 SMPD1 Ivone Leong Tag for-review was removed from gene: SMPD1.
Tag Q1_22_NHS_review was removed from gene: SMPD1.
Cholestasis v1.105 SMPD1 Ivone Leong commented on gene: SMPD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.104 SMPD1 Ivone Leong Source Expert Review Green was added to SMPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.103 SMPD1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: SMPD1.
Cholestasis v1.103 SMPD1 Miranda Durkie reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27198631, 31811098; Phenotypes: Niemann Pick disease A, Niemann Pick disease B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.74 SMPD1 Ivone Leong Tag for-review tag was added to gene: SMPD1.
Cholestasis v1.74 SMPD1 Ivone Leong reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.73 SMPD1 Ivone Leong 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