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| Hereditary Neuropathy - complex v0.6 | SPTBN4 | Bryony Thompson Classified gene: SPTBN4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.6 | SPTBN4 | Bryony Thompson Gene: sptbn4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.5 | SPTBN4 |
Bryony Thompson gene: SPTBN4 was added gene: SPTBN4 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 29861105 Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Review for gene: SPTBN4 was set to GREEN Added comment: 6 families with a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy Sources: Literature |
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