ESRP1

epithelial splicing regulatory protein 1
OMIM: 612959, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red ESRP1 in Mendeliome


Version 1.3102

review 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 1.222

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

Red ESRP1 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.74

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