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Hereditary neuropathy v1.80 | SPTLC1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.80 | SPTLC1 | Louise Daugherty commented on gene: SPTLC1: 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 | SPTLC1 | Louise Daugherty commented on gene: SPTLC1: 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 | SPTLC1 |
Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1 Publications for gene SPTLC1 were changed from to 16216550; 20097765 |
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Hereditary neuropathy v1.58 | SPTLC1 | Natalie Forrester reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20097765, 16216550; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, 162400 , Hereditary Sensory and Autonomic Neuropathy, Type II , Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.56 | SPTLC1 | Louise Daugherty Source South West GLH was added to SPTLC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.55 | SPTLC1 | Louise Daugherty reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.52 | SPTLC1 | James Polke reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.51 | SPTLC1 | Louise Daugherty Source NHS GMS was added to SPTLC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.50 | SPTLC1 |
Louise Daugherty Source London North GLH was added to SPTLC1. Rating Changed from Green List (high evidence) to Green List (high evidence) |