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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessKindler syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Kindler syndrome comprising 1 guideline-curated and altogether 26 curated genes according to the clinical signs

ID
KP4467
Number of genes
20 Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
43,1 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
FERMT12034NM_017671.5AR
BLM4254NM_000057.4AR
CTC13654NM_025099.6AR
DDB21284NM_000107.3AR
DKC11545NM_001363.5XLR
ERCC1972NM_202001.3AR
ERCC22283NM_000400.4AR
ERCC32349NM_000122.2AR
ERCC42751NM_005236.3AR
ERCC53561NM_000123.4AR
FAM111B2115NM_001142703.2AD
NHP2273NM_001034833.2AR
NOP10195NM_018648.4AR
POLH2142NM_006502.3AR
RECQL43628NM_004260.4AR
TERT3399NM_198253.3AR
TINF21356NM_001099274.3AD
WRAP531647NM_001143990.2AR
XPA822NM_000380.4AR
XPC2823NM_004628.5AR

Informations about the disease

Clinical Comment

major type of epidermolysis bullosa, besides simplex, junctional + dystrophic, with skin fragility + blistering at birth followed by photosensitivity + progressive poikilodermatous skin changes

 

Synonyms
  • Alias/closely related: Kindler-Weary hereditary acrokeratotic poikiloderma
  • Alias/closely related: Weary-Kindler syndrome
  • Alias: Bullous akrokeratotic poikiloderma of Kindler + Weary
  • Alias: Poikiloderma of Kindler
  • Alias: Poikiloderma, congenital, with bullae, Weary type
  • Alias: Poikiloderma, hereditary acrokeratotic
  • Allelic: Blood group, Raph (CD151)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
  • Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
  • Allelic: Trichothiodystrophy 2, photosensitive (ERCC3)
  • Bloom syndrome (BLM)
  • Cerebrooculofacioskeletal syndrome 2 (ERCC2)
  • Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Dyskeratosis congenita, AD 2 (TERT)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 1 (NOP10)
  • Dyskeratosis congenita, AR 2 (NPH2)
  • Dyskeratosis congenita, AR 3 (WRAP53)
  • Dyskeratosis congenita, AR 4 (TERT)
  • Dyskeratosis congenita, AR 5 (RTEL1)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Dyskeratosis congenita, XL (DKC1)
  • Epidermolysis bullosa simplex 7, with nephropathy + deafness (CD151)
  • Kindler syndrome (FERMT1)
  • Poikiloderma with neutropenia (USB1)
  • Poikiloderma, hered. fibrosing, tendon contractures, myopathy, pulmonary fibrosis (FAM111B)
  • Revesz syndrome (TINF2)
  • Rothmund-Thomson syndrome, type 1 (ANAPC1)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • 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.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined