PanelApp
  1. Genes and Genomic Entities
  2. S1PR2

S1PR2

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green S1PR2 in Mendeliome


Version 2.588

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sensorineural hearing loss disorder MONDO:0020678, S1PR2-related
  • Congenital limb malformation, MONDO:0019054, S1PR2-related

Green S1PR2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.11

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sensorineural hearing loss disorder MONDO:0020678, S1PR2-related
  • Congenital limb malformation, MONDO:0019054, S1PR2-related

Green S1PR2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Sensorineural hearing loss disorder MONDO:0020678, S1PR2-related
  • Congenital limb malformation, MONDO:0019054, S1PR2-related

Green S1PR2 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.12

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Sensorineural hearing loss disorder MONDO:0020678, S1PR2-related
    • Congenital limb malformation, MONDO:0019054, S1PR2-related

    Green S1PR2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

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