P2RX2

purinergic receptor P2X 2
OMIM: 600844, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green P2RX2 in Mendeliome


Version 1.3795

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 41, MIM# 608224

Green P2RX2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 41, MIM# 608224

Red P2RX2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hearing loss

Red P2RX2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hearing loss