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Deafness_IsolatedAndComplex

Gene: S1PR2

Green List (high evidence)

S1PR2 (sphingosine-1-phosphate receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000267534
EnsemblGeneIds (GRCh37): ENSG00000267534
OMIM: 605111, Gene2Phenotype
S1PR2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families and a mouse model.
Sources: Expert list
Created: 31 Dec 2019, 7:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 68, MIM# 610419

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419
OMIM
605111
Clinvar variants
Variants in S1PR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: S1PR2 was added gene: S1PR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: S1PR2 were set to 26805784; 29776397; 27383011 Phenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419 Review for gene: S1PR2 was set to GREEN