Hearing lossGene: SPNS2
Comment on list classification: Updating the rating from grey to amber. 1 reported case plus mouse model.
Created: 9 Sep 2020, 10:10 a.m. | Last Modified: 9 Sep 2020, 10:10 a.m.
Panel Version: 2.61
Provisionally associated with ?Deafness, autosomal recessive 115 #618457 (AR) in OMIM.
PMID: 30973865 Ingham et al 2019 - mouse screen for genes related to hearing loss using a physiological screen based on the auditory brainstem response (ABR) in mouse mutants. Spns2 mutants showed progressive hearing loss. They also report a child from the USA with compound heterozygous variants in SPNS2 (each one inherited from a parent) (c.1066_1067delCCinsT: p.Pro356Cysfs*35 and c.955_957delTCC: p.Ser319del). The child had moderately severe hearing loss at age 2. Neither variant has been reported in the gnomAD database (accessed January 2019).
PMID: 25356849 Chen et al 2014 - report that Spns2-deficient mice rapidly lost auditory sensitivity and endocochlear potential (EP) from 2 to 3 weeks old.
Created: 9 Sep 2020, 10:08 a.m. | Last Modified: 9 Sep 2020, 10:08 a.m.
Panel Version: 2.60
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: spns2 has been classified as Amber List (Moderate Evidence).
gene: SPNS2 was added gene: SPNS2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPNS2 were set to 30973865; 25356849 Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM#618457 Review for gene: SPNS2 was set to AMBER