Hearing lossGene: SPTBN4
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)
Created: 11 Nov 2020, 11:05 a.m. | Last Modified: 11 Nov 2020, 11:05 a.m.
Panel Version: 2.108
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.
Created: 11 Nov 2020, 10:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519
Gene: sptbn4 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: SPTBN4.
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