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IllnessXeroderma pigmentosum, Trichothiodystrophy/ Cockayne syndrome; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Xeroderma pigmentosum [DD Trichothiodystrophy, Cockayne syndrome] comprising 10 guideline-curated and altogether 20 curated genes according to the clinical signs

ID
XP0130
Number of genes
17 Accredited laboratory test
Examined sequence length
25,5 kb (Core-/Core-canditate-Genes)
33,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

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
GTF2E21323NM_002095.6AR
MRE112127NM_005591.4AR
RAD503939NM_005732.4AR
RNF113A1032NM_006978.3XL

Informations about the disease

Clinical Comment

Genodermatosis with extreme sensitivity to UV-induced changes in the skin/eyes, multiple skin cancers. 8 complementation groups: classical XP (XPA-XPG) + XP variant (XPV)

 

Synonyms
  • CSA sympt.: Cachectic dwarfism, skin photosensitivity, thin hair, progeroidism, ...
  • ...progressive pigmentary retinopathy, sensorineural hearing loss, dental caries
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Allelic: De Sanctis-Cacchione syndrome (ERCC6)
  • Allelic: Developmental + epileptic encephalopathy 29 (AARS1)
  • Allelic: Fanconi anemia, complementation group Q (ERCC4)
  • Allelic: Leukoencephalopathy, hereditary diffuse, with spheroids 2 (AARS1)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: XFE progeroid syndrome (ERCC4)
  • Ataxia-telangiectasia-like disorder 1 (MRE11)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cerebrooculofacioskeletal syndrome 2 (ERCC2)
  • Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Microcephaly, developmental delay + brittle hair syndrome (CARS1)
  • Nijmegen breakage syndrome-like severe microcephaly (RAD50)
  • Trichothiodystrophy 1, photosensitive (ERCC2)
  • Trichothiodystrophy 2, photosensitive (ERCC3)
  • Trichothiodystrophy 3, photosensitive (GTF2H5)
  • Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
  • Trichothiodystrophy 5, nonphotosensitive (RNF113A)
  • Trichothiodystrophy 6, nonphotosensitive (GTF2E2)
  • Trichothiodystrophy 7, nonphotosensitive (TARS1)
  • Trichothiodystrophy 8, nonphotosensitive (AARS1)
  • UV-sensitive syndrome 1 (ERCC6)
  • UV-sensitive syndrome 2 (ERCC8)
  • 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)
  • Xeroderma pigmentosum, variant type (POLH)
Heredity, heredity patterns etc.
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined