Genomics England
GMS Panels
Panels
Genes and Entities

PKHD1L1

PKHD1 like 1
OMIM: 607843
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 124, OMIM:620794