ABCC1

ATP binding cassette subfamily C member 1
OMIM: 158343, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber ABCC1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Deafness-77, autosomal dominant (DFNA77), MIM#618915

Amber ABCC1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Nonsyndromic hearing loss
  • Deafness-77, autosomal dominant (DFNA77), MIM#618915