PKHD1L1

PKHD1 like 1
OMIM: 607843, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green PKHD1L1 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Deafness, autosomal recessive 124, OMIM:620794