Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Hereditary neuropathy v1.388 XK Ivone Leong Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842; Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease,OMIM:300842; McLeod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Hereditary neuropathy v1.353 XK Louise Daugherty Source Expert Review Green was added to XK.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.352 XK Louise Daugherty edited their review of gene: XK: 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 v1.333 XK Rachel Jones reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11761473, 11761473; Phenotypes: McLeod syndrome with or without chronic granulomatous disease OMIM 300842; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary neuropathy v1.300 XK Louise Daugherty commented on gene: XK: 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 v1.300 XK Louise Daugherty reviewed gene: XK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.134 XK Louise Daugherty Phenotypes for gene: XK were changed from Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease, 300842; Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Hereditary neuropathy v1.128 XK Louise Daugherty Phenotypes for gene: XK were changed from to Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Hereditary neuropathy v1.127 XK Louise Daugherty Mode of inheritance for gene: XK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy v1.121 XK Alexander Rossor reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy v1.119 XK Louise Daugherty Source NHS GMS was added to XK.
Hereditary neuropathy v1.118 XK Louise Daugherty gene: XK was added
gene: XK was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: XK was set to