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Hearing loss

Gene: S1PR2

Green List (high evidence)

S1PR2 (sphingosine-1-phosphate receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000267534
EnsemblGeneIds (GRCh37): ENSG00000267534
OMIM: 605111, Gene2Phenotype
S1PR2 is in 1 panel

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating from red to green. Variants in 3 independent families reported.
Created: 17 Feb 2019, 4:58 p.m.
Associated with Deafness, autosomal recessive 68 (MIM 610419) in OMIM.

Three independent reports of variants in this gene associated with hearing loss:
1) 2 consanguineous Pakistani families in Santos-Cortez (2016) PMID 26805784
2) 1 consangiuneous Iranian family in Hofrichter et al (2018) PMID 29776397
3) 1 family from GOSH lab
Created: 17 Feb 2019, 4:54 p.m.

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Homozygous frameshift 1 family in our lab. Santos-Cortez (2016) PMID 26805784 (2 different consanguineous Pakistani families); Hofrichter et al (2018) PMID 29776397 (shown to segregate in four affected individuals from one consanguineous Iranian family)
Created: 17 Feb 2019, 4:35 p.m.

Publications

Jun Shen (Harvard Medical School)

Red List (low evidence)

S1PR2 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:08 a.m.
S1PR2 is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:45 p.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Deafness, autosomal recessive 68 610419
OMIM
605111
Clinvar variants
Variants in S1PR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: s1pr2 has been classified as Green List (High Evidence).

17 Feb 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: S1PR2 were changed from to Deafness, autosomal recessive 68 610419

17 Feb 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: S1PR2 were set to

17 Feb 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: S1PR2 was changed from to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

S1PR2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert