S1PR2:Ensemblv90

sphingosine-1-phosphate receptor 2
OMIM: 605111, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green S1PR2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419

Green S1PR2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419

Green S1PR2 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.84

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419

Green S1PR2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419
Tags
  • deafness

Green S1PR2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419

Green S1PR2 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419

Green S1PR2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419
Tags
  • deafness