PKHD1L1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• autosomal recessive nonsyndromic hearing loss 124

  0.60

• female infertility

  0.45

• tooth disorder

  0.25

• preeclampsia

  0.21

• Cholecystitis

  0.14

• cancer

  0.08

• autosomal dominant severe congenital neutropenia

  0.07

• X-linked severe congenital neutropenia

  0.06

• neutropenia, severe congenital, 2, autosomal dominant

  0.05

• neutropenia, severe congenital, 1, autosomal dominant

  0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)