CHD1L

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CHD1L in ClinGen Gene Validity Curations


Version 0.65

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • ClinGen
  • Other
Phenotypes
  • Renal or urinary tract malformation (CAKUT)
  • ORPHA93545
Red CHD1L in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.177

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • ORPHA93545
    • Renal or urinary tract malformation (CAKUT)