Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |