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Hearing loss

Gene: SPNS2

Amber List (moderate evidence)

SPNS2 (sphingolipid transporter 2)
EnsemblGeneIds (GRCh38): ENSG00000183018
EnsemblGeneIds (GRCh37): ENSG00000183018
OMIM: 612584, Gene2Phenotype
SPNS2 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

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

Publications

Zornitza Stark (Australian Genomics)

I don't know

Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Created: 2 Jan 2020, 5:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 115, MIM#618457

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 115, MIM#618457
OMIM
612584
Clinvar variants
Variants in SPNS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: spns2 has been classified as Amber List (Moderate Evidence).

2 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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