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IllnessCockayne syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Cockayne syndrome comprising 13 or altogether 39 curated genes according to the clinical signs

ID
CP0333
Number of genes
39 Accredited laboratory test
Examined sequence length
25,5 kb (Core-/Core-canditate-Genes)
118,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

...after exclusion of mutations in the "Cockayne syndrome genes" in a narrow sense (refer to panel CP0333)

NGS +

[[Sanger]]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DDB21284NM_000107.3AR
ERCC1972NM_202001.3AR
ERCC22283NM_000400.4AR
ERCC32349NM_000122.2AR
ERCC42751NM_005236.3AR
ERCC53561NM_000123.4AR
ERCC64482NM_000124.4AR
ERCC81191NM_000082.4AR
GTF2H5216NM_207118.3AR
MPLKIP540NM_138701.4AR
POLH2142NM_006502.3AR
XPA822NM_000380.4AR
XPC2823NM_004628.5AR
ATR7935NM_001184.4AR
BLM4254NM_000057.4AR
CENPJ4017NM_018451.5AR
CEP1524965NM_014985.4AR
CEP632112NM_025180.5AR
CREBBP7329NM_004380.3AD
DNA23183NM_001080449.3AD
EP3007245NM_001429.4AD
HDAC81134NM_018486.3XL
LMNA1995NM_170707.4AD, AR
NIN4134NM_016350.5AR
NIPBL8415NM_133433.4AD
NSMCE21074NM_173685.4AR
PLP1834NM_000533.5XLR
POLR3A4173NM_007055.4AR
RAB18621NM_021252.5AR
RAB3GAP12946NM_012233.3AR
RAB3GAP24182NM_012414.4AR
RAD211896NM_006265.3AD, AR
RBBP82694NM_002894.3AR
RECQL43628NM_004260.4AR
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4AD
TBC1D201212NM_144628.4AR
TRAIP1507NM_005879.3AR
WRN4299NM_000553.6AR

Informations about the disease

Clinical Comment

applicable to a wide spectrum of disorders resembling (some aspects of) Cockayne syndrome

 

Synonyms
  • Cockayne syndrome spectrum
  • Sy: Cachectic dwarfism, cutaneous photosensitivity, thin, dry hair, progeroid appearance
  • Allelic: Baller-Gerold syndrome (RECQL4)
  • Allelic: Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Allelic: Cerebrooculofacioskeletal syndrome 2 (ERCC2)
  • Allelic: Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Allelic: Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Allelic: Colorectal cancer, somatic (EP300)
  • Allelic: De Sanctis-Cacchione syndrome (ERCC6)
  • Allelic: Fanconi anemia, complementation group Q (ERCC4)
  • Allelic: Leukodystrophy, hypomyelin., 7, with/-out oligodontia +/- hypogonadotr. hypogonad. (POLR3A)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Mungan syndrome (RAD21)
  • Allelic: Pancreatic carcinoma, somatic (RBBP8)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: Progressive external ophthalmoplegia with mtDNA deletions, AD 6 (DNA2)
  • Allelic: RAPADILINO syndrome (RECQL4)
  • Allelic: Spastic paraplegia 2, XL (PLP1)
  • Bloom syndrome (BLM)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Cutaneous telangiectasia + cancer syndrome, familial (ATR)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Hutchinson-Gilford progeria (LMNA)
  • Jawad syndrome (RBBP8)
  • Martsolf syndrome 1 (RAB3GAP2)
  • Martsolf syndrome 2 (RAB3GAP1)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menke-Hennekam syndrome 2 (EP300)
  • Microcephaly 6, primary, AR (CENPJ)
  • Microcephaly 9, primary, AR (CEP152)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Rubinstein-Taybi syndrome 2 (EP300)
  • Seckel syndrome 1 (ATR)
  • Seckel syndrome 10 (NSMCE2)
  • Seckel syndrome 2 (RBBP8)
  • Seckel syndrome 4 (CENPJ)
  • Seckel syndrome 5 (CENP152)
  • Seckel syndrome 6 (CEP63)
  • Seckel syndrome 7 (NIN)
  • Seckel syndrome 8 (DNA2)
  • Seckel syndrome 9 (TRAIP)
  • Trichothiodystrophy 1, photosensitive (ERCC2)
  • Trichothiodystrophy 2, photosensitive (ERCC3)
  • Trichothiodystrophy 3, photosensitive (GTF2H5)
  • Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
  • UV-sensitive syndrome 1 (ERCC6)
  • UV-sensitive syndrome 2 (ERCC8)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Warburg micro syndrome 2 (RAB3GAP2)
  • Warburg micro syndrome 3 (RAB18)
  • Warburg micro syndrome 4 (TBC1D20)
  • Werner syndrome (WRN)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
  • Xeroderma pigmentosum, group A (XPA)
  • Xeroderma pigmentosum, group B (ERCC3)
  • Xeroderma pigmentosum, group C (XPC)
  • Xeroderma pigmentosum, group D (ERCC2)
  • Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
  • Xeroderma pigmentosum, group F (ERCC4)
  • Xeroderma pigmentosum, group G (ERCC5)
  • Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
  • Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined