Monogenic hearing loss
Gene: S1PR2Comment 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 labCreated: 17 Feb 2019, 4:54 p.m.
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
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
Gene: s1pr2 has been classified as Green List (High Evidence).
Phenotypes for gene: S1PR2 were changed from to Deafness, autosomal recessive 68 610419
Publications for gene: S1PR2 were set to
Mode of inheritance for gene: S1PR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
S1PR2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert