Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Hereditary neuropathy or pain disorder v3.69 SLC12A6 Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum to Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068; Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Hereditary neuropathy or pain disorder v3.68 SLC12A6 Arina Puzriakova commented on gene: SLC12A6
Hereditary neuropathy or pain disorder v3.68 SLC12A6 Arina Puzriakova Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015; 16606917; 17893295; 21628467
Hereditary neuropathy or pain disorder v3.67 SLC12A6 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: SLC12A6.
Tag Q4_23_NHS_review tag was added to gene: SLC12A6.
Hereditary neuropathy or pain disorder v3.67 SLC12A6 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: SLC12A6.
Hereditary neuropathy or pain disorder v3.62 SLC12A6 Christopher Record reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27485015, 36542484, 35733399, 31439721, 33323309; Phenotypes: CMT1, CMT2, CMTi, dHMN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v1.88 SLC12A6 Sarah Leigh commented on gene: SLC12A6: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Hereditary neuropathy or pain disorder v1.83 SLC12A6 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SLC12A6.
Hereditary neuropathy or pain disorder v1.80 SLC12A6 Sarah Leigh edited their review of gene: SLC12A6: Added comment: In reviewing SLC12A6 on the Intellectual disabily panel, it was suggested that this gene should be green on this panel (source NHS Genomic Medicine Service).; Changed rating: GREEN
Hereditary neuropathy or pain disorder v1.80 SLC12A6 Sarah Leigh Tag Q1_22_rating tag was added to gene: SLC12A6.
Hereditary neuropathy or pain disorder v1.6 SLC12A6 Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
Hereditary neuropathy or pain disorder v1.6 SLC12A6 Sarah Leigh commented on gene: SLC12A6
Hereditary neuropathy or pain disorder v1.6 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912
Hereditary neuropathy or pain disorder v1.5 SLC12A6 Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
Hereditary neuropathy or pain disorder v0.66 SLC12A6 Louise Daugherty Classified gene: SLC12A6 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.66 SLC12A6 Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.66 SLC12A6 Louise Daugherty Gene: slc12a6 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.65 SLC12A6 Louise Daugherty commented on gene: SLC12A6: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.1 SLC12A6 Ellen McDonagh gene: SLC12A6 was added
gene: SLC12A6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A6 were set to 12368912
Phenotypes for gene: SLC12A6 were set to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum