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| DDG2P v4.2 | SPTBN4 | Arina Puzriakova Phenotypes for gene: SPTBN4 were changed from NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519 to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTBN4 | Achchuthan Shanmugasundram reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28540413, 29861105, 28940097, 31857255, 31230720; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPTBN4 |
Achchuthan Shanmugasundram gene: SPTBN4 was added gene: SPTBN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 29861105; 28940097; 31857255; 31230720 Phenotypes for gene: SPTBN4 were set to NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519 |
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