CHD1L

chromodomain helicase DNA binding protein 1 like
OMIM: 613039, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red CHD1L in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.181

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Renal or urinary tract malformation (CAKUT)
  • ORPHA93545
Tags
  • missense
Red CHD1L in Unexplained young onset end-stage renal disease - additional genes


Level 2: Renal
Version 1.4
Latest signed off version: v1.1 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • congenital anomaly of kidney and urinary tract, MONDO:0019719