Panel 14 · Syndromic & Multisystem

Cornelia de Lange Syndrome Panel

Cornelia de Lange syndrome and cohesinopathy-spectrum disorders.

Panel number
14 of 58
Clinical category
Syndromic & Multisystem
Genes on this panel
20
Original panel title
Cornelıa De Lange Sendromu Paneli
Source version
PANEL LİSTESİ V9
Requested via
Rare Disease Genomics

Gene content

20 genes

All 20 gene symbols in source order
  • ANKRD11
  • ARID1B
  • ASXL1
  • CDK13
  • CREBBP
  • EP300
  • ESCO2
  • HDAC4
  • HDAC8
  • KDM6A
  • KMT2A
  • KMT2D
  • MED13L
  • NIPBL
  • RAD21
  • SETD5
  • SMARCB1
  • SMC1A
  • SMC3
  • TAF1

Gene symbols are reproduced from the department’s current NGS panel source document (PANEL LİSTESİ V9), in source order. No symbol has been added, removed, renamed or expanded, and none has been reconciled against an earlier edition of the catalogue or against an external gene database. Panel titles, gene counts and gene content are published as confirmed by the department. Panel composition may be revised; the version in force at the time of testing applies.