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Hereditary neuropathy v1.353 SLC5A7 Louise Daugherty Source Expert Review Green was added to SLC5A7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.352 SLC5A7 Louise Daugherty edited their review of gene: SLC5A7: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.300 SLC5A7 Louise Daugherty commented on gene: SLC5A7: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SLC5A7 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SLC5A7 Louise Daugherty commented on gene: SLC5A7: 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 v1.79 SLC5A7 Alexander Rossor commented on gene: SLC5A7: Additional families now described with very tight phenotype
Hereditary neuropathy v1.63 SLC5A7 Louise Daugherty commented on gene: SLC5A7: 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 SLC5A7 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA for gene: SLC5A7
Publications for gene SLC5A7 were changed from to 29782645; 23141292
Hereditary neuropathy v1.58 SLC5A7 Natalie Forrester reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 23141292, 29782645; Phenotypes: Neuronopathy, distal hereditary motor, type VIIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.56 SLC5A7 Louise Daugherty Source South West GLH was added to SLC5A7.
Hereditary neuropathy v1.55 SLC5A7 Louise Daugherty reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC5A7 James Polke reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.51 SLC5A7 Louise Daugherty Source NHS GMS was added to SLC5A7.
Hereditary neuropathy v1.50 SLC5A7 Louise Daugherty Source London North GLH was added to SLC5A7.