GPRASP2

G protein-coupled receptor associated sorting protein 2
OMIM: 300969, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red GPRASP2 in Mendeliome


Version 1.4516

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702

Red GPRASP2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.332

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Red
  • Expert Review Red
  • Literature
Phenotypes
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702