Klinische FragestellungBrooke-Spiegler-Syndrom ["CYLD cutaneous syndrome"], Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Brooke-Spiegler-Syndrom mit 8 "Leitlinien"-kuratierten zusammen genommen 9 kuratierten Genen gemäß klinischer Verdachtsdiagnose

BP9239

Anzahl Gene

9 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

29,2 kb (Core-/Core-canditate-Gene)
33,5 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
CYLD	2871	605018	NM_015247.3	AD
FLCN	1740	607273	NM_144997.7	AD
HR	3570	602302	NM_005144.5	AD, AR
NF1	8457	613113	NM_001042492.3	AD
PLCD1	2334	602142	NM_001130964.2	AD, AR
PTEN	1212	601728	NM_000314.8	AD
TSC1	3495	605284	NM_000368.5	AD
TSC2	5424	191092	NM_000548.5	AD
PTCH1	4344	601309	NM_000264.5	AD

Infos zur Erkrankung

Synonyme

Alias: Ancell-Spiegler cylindromas (CYLD)
Alias: CYLD Cutaneous Syndrome
Alias: Dermal eccrine cylindroma (CYLD)
Alias: Familial Cylindromatosis
Alias: Multiple Familial Trichoepithelioma
Alias: Turban tumor syndrome (now denoted as confluent scalp tumors (CYLD)
Allelic: Alopecia universalis (HR)
Allelic: Colorectal cancer, somatic (FLCN)
Allelic: Cowden syndrome 1 (PTEN)
Allelic: Focal cortical dysplasia, type II, somatic (TSC1, TSC2)
Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
Allelic: Glioma susceptibility 2 (PTEN)
Allelic: Holoprosencephaly 7 (PTCH1)
Allelic: Leukemia, juvenile myelomonocytic (NF1)
Allelic: Lymphangioleiomyomatosis (TSC1)
Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
Allelic: Macrocephaly/autism syndrome (PTEN)
Allelic: Meningioma (PTEN)
Allelic: Pneumothorax, primary spontaneous (FLCN)
Allelic: Prostate cancer, somatic (PTEN)
Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
Atrichia with papular lesions (HR)
Basal cell carcinoma, somatic (PTCH1)
Basal cell nevus syndrome (PTCH1)
Birt-Hogg-Dube syndrome (FLCN)
Brooke-Spiegler syndrome (CYLD)
Cylindromatosis, familial (CYLD)
Hypotrichosis 4 (HRURF)
Lhermitte-Duclos syndrome (PTEN)
Nail disorder, nonsyndromic congenital, 3 [leukonychia] (PLCD1)
Neurofibromatosis, familial spinal (NF1)
Neurofibromatosis, type 1 (NF1)
Neurofibromatosis-Noonan syndrome (NF1)
Trichoepithelioma, multiple familial, 1 (CYLD)
Tuberous sclerosis-1 (TSC1)
Tuberous sclerosis-2 (TSC2)
Watson syndrome (NF1)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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