Klinische FragestellungOsteopathia striata - kraniale Sklerose, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Osteopathia striata - kraniale Sklerose mit 1 "core"-Gen sowie insgesamt 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose

OP3336

Anzahl Gene

17 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

3,5 kb (Core-/Core-canditate-Gene)
37,4 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
AMER1	3408	300647	NM_152424.4	XL
ANKH	1479	605145	NM_054027.6	AD
CA2	783	611492	NM_000067.3	AR
CLCN7	2418	602727	NM_001287.6	AD, AR
GJA1	1149	121014	NM_000165.5	AD, AR
LRP4	5718	604270	NM_002334.4	AD, AR
LRP5	4848	603506	NM_002335.4	AD, AR
OSTM1	1005	607649	NM_014028.4	AR
PLEKHM1	3171	611466	NM_014798.3	AR, AD
PORCN	1386	300651	NM_203475.3	XL
SNX10	606	614780	NM_001199835.1	AR
SOST	642	605740	NM_025237.3	AD, AR
TCIRG1	2493	604592	NM_006019.4	AR
TGFB1	1173	190180	NM_000660.7	AD, AR
TNFRSF11A	1851	603499	NM_003839.4	AR, AD
TNFSF11	954	602642	NM_003701.4	AR
TONSL	4246	604546	NM_013432.5	AR

Infos zur Erkrankung

Synonyme

Alias: Hyperostosis generalisata with striations
Alias: Hypopigmentation, organomegaly, delayed myelination + development (CLCN7)
Allelic: Atrioventricular septal defect 3 (GJA1)
Allelic: Cenani-Lenz syndactyly syndrome (LRP4)
Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
Allelic: Hypoplastic left heart syndrome 1 (GJA1)
Allelic: Myasthenic syndrome, congenital, 17 (LRP4)
Allelic: Oculodentodigital dysplasia (GJA1)
Allelic: Oculodentodigital dysplasia, AR (GJA1)
Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
Allelic: Polycystic liver disease 4 with/-out kidney cysts (LRP5)
Allelic: Syndactyly, type III (GJA1)
Chondrocalcinosis 2 (ANKH)
Craniodiaphyseal dysplasia, AD (SOST)
Craniometaphyseal dysplasia (ANKH)
Craniometaphyseal dysplasia, AR (GJA1)
Focal dermal hypoplasia (PORCN)
Hyperostosis, endosteal (LRP5)
Osteolysis, familial expansile (TNFRSF11A)
Osteopathia striata (AMER1)
Osteopetrosis, AD 1 (LRP5)
Osteopetrosis, AD 2 (CLCN7)
Osteopetrosis, AD 3 (PLEKHM1
Osteopetrosis, AR 1 (TCIRG1)
Osteopetrosis, AR 2 (TNFSF11)
Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
Osteopetrosis, AR 4 (CLCN7)
Osteopetrosis, AR 5 (OSTM1)
Osteopetrosis, AR 6 (PLEKHM1)
Osteopetrosis, AR 7 (TNFRSF11A)
Osteopetrosis, AR 8 (SNX10)
Osteoporosis-pseudoglioma syndrome (LRP5)
Osteosclerosis (LRP5)
Paget disease of bone 2, early-onset (TNFRSF11A)
Sclerosteosis 1 (SOST)
Sclerosteosis 2 (LRP4)
Spondyloepimetaphyseal dysplasia, sponastrime type (TONSL)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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