Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Hereditary neuropathy or pain disorder v5.16 LYST Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: LYST.
Tag Q2_24_NHS_review was removed from gene: LYST.
Hereditary neuropathy or pain disorder v5.16 LYST Achchuthan Shanmugasundram reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.15 LYST Achchuthan Shanmugasundram Source Expert Review Green was added to LYST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.8 LRP12 Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present.; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.
Hereditary neuropathy or pain disorder v5.8 LRP12 Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). ; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present.
Hereditary neuropathy or pain disorder v4.11 LYST Sarah Leigh Tag Q2_24_promote_green tag was added to gene: LYST.
Tag Q2_24_NHS_review tag was added to gene: LYST.
Hereditary neuropathy or pain disorder v4.11 LYST Sarah Leigh reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 9215680, 8896560, 9215679, 11857544; Phenotypes: Chediak-Higashi syndrome, OMIM:214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.83 LYST Alexander Rossor commented on gene: LYST: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
Hereditary neuropathy or pain disorder v0.77 LYST Louise Daugherty commented on gene: LYST: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Chediak-Higashi (albinism, immune deficiency)
Hereditary neuropathy or pain disorder v0.77 LYST Louise Daugherty Classified gene: LYST as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.77 LYST Louise Daugherty Added comment: Comment on list classification: 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 v0.77 LYST Louise Daugherty Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 27669550
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500; Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy