ESRP1

epithelial splicing regulatory protein 1
OMIM: 612959, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ESRP1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 109, MIM# 618013

Amber ESRP1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 109, MIM# 618013

Amber ESRP1 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 109, MIM# 618013