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| Hereditary Neuropathy v1.110 | Bryony Thompson Copied gene KIF5A from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.110 | KIF5A |
Bryony Thompson gene: KIF5A was added gene: KIF5A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 30057544; 29892902; 28902413; 26403765; 25695920; 25008398 Phenotypes for gene: KIF5A were set to Hereditary Neuropathies; HMSN |
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| Hereditary Neuropathy v0.275 | SPAST |
Sangavi Sivagnanasundram changed review comment from: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A. PMID: 322442913; 22192498 3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; to: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A. PMID: 32242913; 22192498 3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed. |
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| Hereditary Neuropathy v0.274 | SPAST |
Sangavi Sivagnanasundram edited their review of gene: SPAST: Added comment: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A. PMID: 322442913; 22192498 3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; Changed rating: GREEN; Changed publications: 322442913, 22192498, 26374131, 20301339 |
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