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Hereditary neuropathy v1.465 SPG7 Sarah Leigh commented on gene: SPG7
Hereditary neuropathy v1.465 SPG7 Sarah Leigh Publications for gene: SPG7 were set to
Hereditary neuropathy v1.464 SPG7 Sarah Leigh Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy v1.463 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Hereditary neuropathy v1.353 SPG7 Louise Daugherty Source Expert Review Amber was added to SPG7.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.352 SPG7 Louise Daugherty commented on gene: SPG7: 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.
Hereditary neuropathy v1.300 SPG7 Louise Daugherty commented on gene: SPG7: 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 v1.120 SPG7 Louise Daugherty Source London North GLH was added to SPG7.
Hereditary neuropathy v1.94 SPG7 Louise Daugherty Phenotypes for gene: SPG7 were changed from Hereditary Neuropathies to Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients
Hereditary neuropathy v1.93 SPG7 Louise Daugherty Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.81 SPG7 Alexander Rossor Deleted their comment
Hereditary neuropathy v1.81 SPG7 Alexander Rossor edited their review of gene: SPG7: Changed rating: GREEN; Changed phenotypes: Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.63 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.60 SPG7 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPG7
Hereditary neuropathy v1.58 SPG7 Natalie Forrester reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.57 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Hereditary neuropathy v1.56 SPG7 Louise Daugherty Source South West GLH was added to SPG7.