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Hearing loss

Gene: SPNS2

No list

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

1 review

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
Phenotypes
  • Deafness, autosomal recessive 115, MIM#618457
OMIM
612584
Clinvar variants
Variants in SPNS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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