MEPE

matrix extracellular phosphoglycoprotein
OMIM: 605912, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MEPE in Mendeliome


Version 1.2511

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related
  • hereditary congenital facial paresis
  • otosclerosis

Amber MEPE in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.70

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related
  • hereditary congenital facial paresis
  • otosclerosis