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Hereditary neuropathy v1.80 RETREG1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 RETREG1 Louise Daugherty commented on gene: RETREG1: 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.
Hereditary neuropathy v1.63 RETREG1 Louise Daugherty commented on gene: RETREG1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.60 RETREG1 Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
Publications for gene RETREG1 were changed from PMID: 26392352 to 30373780; 19838196
Hereditary neuropathy v1.58 RETREG1 Natalie Forrester reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30373780, 19838196; Phenotypes: Hereditary Sensory and Autonomic Neuropathy, Type II , Neuropathy, hereditary sensory and autonomic, type IIB, 613115 , Neuropathy, hereditary sensory and autonomic, type IIB, 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.56 RETREG1 Louise Daugherty Source South West GLH was added to RETREG1.
Hereditary neuropathy v1.55 RETREG1 Louise Daugherty edited their review of gene: RETREG1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.52 RETREG1 James Polke reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.51 RETREG1 Louise Daugherty Source NHS GMS was added to RETREG1.
Hereditary neuropathy v1.50 RETREG1 Louise Daugherty Source London North GLH was added to RETREG1.