EHD1

EH domain containing 1
OMIM: 605888, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber EHD1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inherited renal tubular disease, MONDO:0015962, EHD1-related

Amber EHD1 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.225

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inherited renal tubular disease, MONDO:0015962, EHD1-related

    Amber EHD1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inherited renal tubular disease, MONDO:0015962, EHD1-related