| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary neuropathy or pain disorder v0.36 | DST | Louise Daugherty edited their review of gene: DST: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.36 | DST | Louise Daugherty commented on gene: DST: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) . New evidence/re-evaluation of evidence - promotion to Green / New evidence - upgrade to Green? New evidence promote to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.12 | DST | Louise Daugherty Classified gene: DST as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.12 | DST | 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 v0.12 | DST | Louise Daugherty Gene: dst has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | DSTYK |
Ellen McDonagh gene: DSTYK was added gene: DSTYK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSTYK were set to Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750 |
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| Hereditary neuropathy or pain disorder v0.1 | DST |
Ellen McDonagh gene: DST was added gene: DST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DST were set to 30371979; 28468842 Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI |
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