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Severe Paediatric Disorders v0.12 | SPTBN4 | Louise Daugherty reviewed gene: SPTBN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SPTBN4 | Louise Daugherty Publications for gene SPTBN4 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SPTBN4 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SPTBN4 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SPTBN4 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SPTBN4 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SPTBN4 |
Louise Daugherty Mode of inheritance for gene SPTBN4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4 |
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Severe Paediatric Disorders v0.7 | SPTBN4 | Louise Daugherty Source Next Generation Children Project was added to SPTBN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SPTBN4 |
Louise Daugherty Source Expert Review Green was added to SPTBN4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SPTBN4 |
Louise Daugherty gene: SPTBN4 was added gene: SPTBN4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SPTBN4 was set to |