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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCerebrooculofacioskeletal syndrome

Request form illness

Summary

Short information

A curated panel containing 4 genes for the comprehensive analysis of the suspected Pena–Shokeir syndrome II

ID
PP1930
Number of genes
4 Accredited laboratory test
Examined sequence length
11,3 kb (Core-/Core-canditate-Genes)
- (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
ERCC1972NM_202001.3AR
ERCC22283NM_000400.4AR
ERCC53561NM_000123.4AR
ERCC64482NM_000124.4AR

Informations about the disease

Clinical Comment

Rare genetic disorder, belonging to a family of diseases of DNA repair with a severe sensorineural involvement

 

Synonyms
  • Alias: COFS syndrome
  • Alias: Cerebrooculofacioskeletal syndrome
  • Alias: Cockayne syndrome II
  • Alias: Pena-Shokeir syndrome type 2
  • Allelic: Cockayne syndrome, type B (ERCC6)
  • Allelic: De Sanctis-Cacchione syndrome (ERCC6)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: Xeroderma pigmentosum, group D (ERCC2)
  • Allelic: Xeroderma pigmentosum, group G (ERCC5)
  • Allelic: Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cerebrooculofacioskeletal syndrome 2 (ERCC2)
  • Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Cerebrooculofacioskeletal syndrome 4 (ERCC1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined