PanelApp
  1. Genes and Genomic Entities
  2. EPS8

EPS8

epidermal growth factor receptor pathway substrate 8
OMIM: 600206, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green EPS8 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive nonsyndromic hearing loss 102 MONDO:0014428

Green EPS8 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.238

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 102, MIM# 615974

Green EPS8 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.82

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
Phenotypes
  • Deafness, autosomal recessive 102, MIM# 615974

Green EPS8 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • deafness MIM#600205

Green EPS8 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428
Tags
  • deafness