10 May 2019
Hereditary neuropathy v1.80
SLC52A1
Louise Daugherty Deleted their comment
09 May 2019
Hereditary neuropathy v1.80
SLC52A1
Louise Daugherty commented on gene: SLC52A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
29 Apr 2019
Hereditary neuropathy v1.63
SLC52A1
Louise Daugherty commented on gene: SLC52A1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019
Hereditary neuropathy v1.60
SLC52A1
Louise Daugherty Added phenotypes dHMN; Riboflavin deficiency for gene: SLC52A1
29 Apr 2019
Hereditary neuropathy v1.58
SLC52A1
Natalie Forrester reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dHMN, Riboflavin deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
29 Apr 2019
Hereditary neuropathy v1.56
SLC52A1
Louise Daugherty Source South West GLH was added to SLC52A1.
29 Apr 2019
Hereditary neuropathy v1.55
SLC52A1
Louise Daugherty reviewed gene: SLC52A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019
Hereditary neuropathy v1.52
SLC52A1
James Polke reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019
Hereditary neuropathy v1.51
SLC52A1
Louise Daugherty Source NHS GMS was added to SLC52A1.
29 Apr 2019
Hereditary neuropathy v1.50
SLC52A1
Louise Daugherty Source London North GLH was added to SLC52A1.