ErkrankungCockayne-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-/Basis-Gene)
118,6 kb (Erweitertes Panel)
118,6 kb (Erweitertes Panel)
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
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
DDB2 | 1284 | AR | |
ERCC1 | 972 | AR | |
ERCC2 | 2283 | AR | |
ERCC3 | 2349 | AR | |
ERCC4 | 2751 | AR | |
ERCC5 | 3561 | AR | |
ERCC6 | 4482 | AD und/oder AR und/oder SMu und/oder Sus | |
ERCC8 | 1191 | AR und/oder Sus | |
GTF2H5 | 216 | AR | |
MPLKIP | 540 | AR | |
POLH | 2142 | AR | |
XPA | 822 | AR | |
XPC | 2823 | AR | |
ATR | 7935 | AD und/oder AR | |
BLM | 4254 | AR und/oder Sus | |
CENPJ | 4017 | AR | |
CEP152 | 4965 | AR und/oder Dig | |
CEP63 | 2112 | AR | |
CREBBP | 7329 | AD und/oder SMu und/oder Meth und/oder Impr | |
DNA2 | 3183 | AD und/oder AR | |
EP300 | 7245 | AD und/oder SMu und/oder Meth und/oder Impr | |
HDAC8 | 1134 | XLD | |
LMNA | 1995 | AD und/oder AR und/oder Dig | |
NIN | 4134 | AR | |
NIPBL | 8415 | AD und/oder Impr | |
NSMCE2 | 1074 | AR | |
PLP1 | 834 | XLR | |
POLR3A | 4173 | AR | |
RAB18 | 621 | AR | |
RAB3GAP1 | 2946 | AR | |
RAB3GAP2 | 4182 | AR | |
RAD21 | 1896 | AD und/oder AR und/oder SMu und/oder Impr | |
RBBP8 | 2694 | AR | |
RECQL4 | 3628 | AR | |
SMC1A | 3702 | XLD und/oder Impr | |
SMC3 | 3654 | AD und/oder SMu und/oder Impr | |
TBC1D20 | 1212 | AR | |
TRAIP | 1507 | AR | |
WRN | 4299 | AR |
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 und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder AR und/oder SMu und/oder Impr
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder Impr
- AD und/oder SMu und/oder Impr
- AD und/oder SMu und/oder Meth und/oder Impr
- AR
- AR und/oder Dig
- AR und/oder Sus
- XLD
- XLD und/oder Impr
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q89.8
Bioinformatik und klinische Interpretation
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