ABCC1:Ensemblv90

ATP binding cassette subfamily C member 1
OMIM: 158343, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ABCC1 in Mendeliome


Version 1.3802

1 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 1.304

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

Amber ABCC1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

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