Deafness_IsolatedAndComplex
Gene: S1PR2EnsemblGeneIds (GRCh38): ENSG00000267534
EnsemblGeneIds (GRCh37): ENSG00000267534
OMIM: 605111, Gene2Phenotype
S1PR2 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families and a mouse model.
Sources: Expert listCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: s1pr2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: s1pr2 has been classified as Green List (High Evidence).
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