Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 6 actions
12 May 2021	Hereditary Neuropathy_CMT - isolated v0.163	SMN1	Zornitza Stark Marked gene: SMN1 as ready
12 May 2021	Hereditary Neuropathy_CMT - isolated v0.163	SMN1	Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
12 May 2021	Hereditary Neuropathy_CMT - isolated v0.163	SMN1	Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy to Spinal muscular atrophy-1, MIM# 253300; Spinal muscular atrophy-2, MIM# 253550; Spinal muscular atrophy-3, MIM# 253400; Spinal muscular atrophy-4, MIM# 271150
12 May 2021	Hereditary Neuropathy_CMT - isolated v0.162	SMN1	Zornitza Stark Tag SV/CNV tag was added to gene: SMN1.
12 May 2021	Hereditary Neuropathy_CMT - isolated v0.162	SMN1	Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, Spinal muscular atrophy-2, MIM# 253550, Spinal muscular atrophy-3, MIM# 253400, Spinal muscular atrophy-4, MIM# 271150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Jan 2020	Hereditary Neuropathy_CMT - isolated v0.0	SMN1	Bryony Thompson gene: SMN1 was added gene: SMN1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy