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Klinische FragestellungCockayne-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Cockayne-Snydrom mit 13 bzw. zusammen genommen 39 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
CP0333
Anzahl Gene
39 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,5 kb (Core-/Core-canditate-Gene)
118,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

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

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
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

Infos zur Erkrankung

Klinischer Kommentar

Das panel sollte ein größeres Spektrum von Erkrankungen aus dem Umfeld von Cockayne Syndrom differentialdiagnostisch mit erfassen können.

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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