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| Monogenic hearing loss v2.108 | SPTBN4 | Arina Puzriakova Classified gene: SPTBN4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.108 | SPTBN4 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber as degree of the deafness phenotype is unclear in 2/4 individuals reported with auditory impairment. Animal model supports association with this presentation but additional congenital/early-onset cases required before inclusion on a diagnostic hearing loss panel (added 'watchlist' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.108 | SPTBN4 | Arina Puzriakova Gene: sptbn4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.107 | SPTBN4 | Arina Puzriakova Tag watchlist tag was added to gene: SPTBN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.107 | SPTBN4 |
Arina Puzriakova gene: SPTBN4 was added gene: SPTBN4 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 29861105; 31230720; 32672909 Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Review for gene: SPTBN4 was set to AMBER Added comment: At least 11 individuals from 9 unrelated families with biallelic variants in SPTBN4 reported at present. Of these, two unrelated patients presented early-onset deafness (PMID:28540413, 31230720) and two further unrelated individuals displayed abnormal auditory brain stem responses consistent with auditory neuropathy but no further details regarding the deafness phenotype are provided (PMID:29861105). Furthermore, loss of Sptbn4 in mice causes deafness and auditory neuropathy. Sources: Literature |
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