CABP2

calcium binding protein 2
OMIM: 607314, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list CABP2 in Auditory Neuropathy Spectrum Disorde

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Auditory neuropathy
  • auditory synaptopathy
Green CABP2 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Deafness, autosomal recessive 93, 614899