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Hereditary neuropathy v1.69
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DHTKD1
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Louise Daugherty Phenotypes for gene: DHTKD1 were changed from Charcot Marie Tooth disease, axonal, type 2Q, 615025; other; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750 to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750
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Hereditary neuropathy v1.63
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DHTKD1
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Louise Daugherty reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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Hereditary neuropathy v1.60
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DHTKD1
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Louise Daugherty Added phenotypes Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 for gene: DHTKD1
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Hereditary neuropathy v1.58
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DHTKD1
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Natalie Forrester reviewed gene: DHTKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, axonal, type 2Q, 615025, 2 aminoadipic 2 oxoadipic aciduria, 204750; Mode of inheritance: ; Current diagnostic: yes
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Hereditary neuropathy v1.57
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DHTKD1
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Louise Daugherty Source NHS GMS was added to DHTKD1.
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Hereditary neuropathy v1.56
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DHTKD1
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Louise Daugherty Source South West GLH was added to DHTKD1.
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