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| Hereditary neuropathy v1.353 | DST |
Louise Daugherty Source Expert Review Green was added to DST. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary neuropathy v1.352 | DST | Louise Daugherty edited their review of gene: DST: 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 v1.300 | DSTYK | Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.242 | DSTYK | Louise Daugherty Phenotypes for gene: DSTYK were changed from to Spastic paraplegia 23, 270750; Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.241 | DSTYK | Louise Daugherty Mode of inheritance for gene: DSTYK was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.121 | DSTYK | Alexander Rossor reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.120 | DST | Louise Daugherty Source London North GLH was added to DST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.119 | DSTYK | Louise Daugherty Source NHS GMS was added to DSTYK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.118 | DSTYK |
Louise Daugherty gene: DSTYK was added gene: DSTYK was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: DSTYK was set to |
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| Hereditary neuropathy v1.81 | DST | Alexander Rossor edited their review of gene: DST: Added comment: 3 families, mouse model; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.75 | DST | Louise Daugherty Phenotypes for gene: DST were changed from Hereditary Sensory and Autonomic Neuropathy, Type VI; others; ?Neuropathy, hereditary sensory and autonomic, type VI; Neuropathy, hereditary sensory and autonomic, type VI, 614653 to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.63 | DST | Louise Daugherty reviewed gene: DST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | DST |
Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type VI; others; ?Neuropathy, hereditary sensory and autonomic, type VI; Neuropathy, hereditary sensory and autonomic, type VI, 614653 for gene: DST Publications for gene DST were changed from to 30371979; 28468842 |
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| Hereditary neuropathy v1.58 | DST | Natalie Forrester reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, 614653, others, Hereditary Sensory and Autonomic Neuropathy, Type VI, ?Neuropathy, hereditary sensory and autonomic, type VI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.57 | DST | Louise Daugherty Source NHS GMS was added to DST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | DST | Louise Daugherty Source South West GLH was added to DST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||