Panel 34 · Respiratory

Pulmonary Fibrosis and Telomeropathy Panel

Telomere biology disorders and familial pulmonary fibrosis, including associated bone-marrow-failure and malignancy predisposition.

Panel number
34 of 58
Clinical category
Respiratory
Genes on this panel
75
Original panel title
Pulmoner Fibrozis Ve Telomeropati Paneli
Source version
PANEL LİSTESİ V9
Requested via
Rare Disease Genomics

Gene content

75 genes

All 75 gene symbols in source order
  • ABCA3
  • ACVRL1
  • AP3B1
  • ASAH1
  • BLOC1S3
  • BLOC1S6
  • BMPR2
  • CASR
  • CCDC39
  • CCDC40
  • CFTR
  • CSF2RA
  • CSF2RB
  • CTC1
  • DKC1
  • DNAAF1
  • DNAAF2
  • DNAH11
  • DNAH5
  • DNAI1
  • DNAI2
  • DNAL1
  • DOCK8
  • DTNBP1
  • EFEMP2
  • ELMOD2
  • ELN
  • ENG
  • FBLN5
  • FLCN
  • GBA
  • HPS1
  • HPS3
  • HPS4
  • HPS5
  • HPS6
  • ITGA3
  • LTBP4
  • MUC5B
  • NF1
  • NKX2-1
  • NME8
  • NOP10
  • PARN
  • PHOX2B
  • POT1
  • RECQL4
  • RPA1
  • RSPH4A
  • RSPH9
  • RTEL1
  • SAMD9
  • SCNN1A
  • SCNN1B
  • SCNN1G
  • SERPINA1
  • SFTPA1
  • SFTPA2
  • SFTPB
  • SFTPC
  • SLC34A2
  • SLC7A7
  • SLX4
  • SMAD9
  • SMPD1
  • STAT3
  • STN1
  • TERC
  • TERT
  • TINF2
  • TSC1
  • TSC2
  • USB1
  • WRAP53
  • ZCCHC8

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.