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Hereditary neuropathy v1.80 | HSPB3 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.80 | HSPB3 | Louise Daugherty commented on gene: HSPB3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.63 | HSPB3 | Louise Daugherty commented on gene: HSPB3: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.60 | HSPB3 |
Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type IIC, 613376 for gene: HSPB3 Publications for gene HSPB3 were changed from PMID: 20142617 missense variant reported in 2 siblings with an asymmetric axonal motor neuropathy. to 27549087; 20142617 |
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Hereditary neuropathy v1.58 | HSPB3 | Natalie Forrester reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: ; Publications: 20142617, 27549087; Phenotypes: ?Neuronopathy, distal hereditary motor, type IIC, 613376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.56 | HSPB3 | Louise Daugherty Source South West GLH was added to HSPB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.55 | HSPB3 | Louise Daugherty reviewed gene: HSPB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.52 | HSPB3 | James Polke reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.51 | HSPB3 | Louise Daugherty Source NHS GMS was added to HSPB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.50 | HSPB3 | Louise Daugherty Source London North GLH was added to HSPB3. |