ESRP1

epithelial splicing regulatory protein 1
OMIM: 612959, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ESRP1 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 109, MIM# 618013

Red ESRP1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 109, MIM# 618013