Klinische FragestellungGenitopatellar-Syndrom/SBBYS-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Genitopatellar-Syndrom/SBBYS-Syndrom mit zusammen genommen 21 kuratierten Genen gemäß klinischem Verdacht

SP9928

Anzahl Gene

18 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

6,3 kb (Core-/Core-canditate-Gene)
46,6 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
KAT6B	6222	605880	NM_012330.4	AD
CDC45	1819	603465	NM_001178010.2	AR
CDC6	1683	602627	NM_001254.4	AR
CDT1	1641	605525	NM_030928.4	AR
DDX3X	1986	300160	NM_001193416.3	XL
ERCC6	4482	609413	NM_000124.4	AR
ERCC8	1191	609412	NM_000082.4	AR
FBN2	8739	612570	NM_001999.4	AD
FOXL2	1131	605597	NM_023067.4	AD, AR
GMNN	670	602842	NM_001251989.2	AD
LMX1B	1188	602575	NM_002316.4	AD
MCM5	2205	602696	NM_006739.4	AR
ORC1	2586	601902	NM_004153.4	AR
ORC4	1311	603056	NM_002552.5	AR
ORC6	759	607213	NM_014321.4	AR
RECQL4	3628	603780	NM_004260.4	AR
TBX4	1638	601719	NM_018488.3	AD
ZEB2	3645	605802	NM_014795.4	AD

Infos zur Erkrankung

Synonyme

Alias: KAT6B disorder
Alias: Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome, SBBYSS
Allelic: Focal segmental glomerulosclerosis 10 (LMX1B)
Allelic: Hyperphosphatasia with mental retardation syndrome 4 (PGAP3)
Allelic: Intellectual developmental disorder, XL, syndrome, Snijders Blok type (DDX3X)
Allelic: Kaufman oculocerebrofacial syndrome (UBE3B)
Allelic: Lung cancer, susceptibility to (ERCC6)
Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
Allelic: Macular degeneration, early-onset (FBN2)
Allelic: Premature ovarian failure (FOXL2)
Allelic: Premature ovarian failure 11 (ERCC6)
Allelic: UV-sensitive syndrome 1 (ERCC6)
Allelic: UV-sensitive syndrome 2 (ERCC8)
Amelia, posterior, with pelvic + pulmonary hypoplasia syndrome (TBX4)
Baller-Gerold syndrome (RECQL4)
Blepharophimosis, epicanthus inversus + ptosis, types 1 + 2 (FOXL2)
Cerebrooculofacioskeletal syndrome 1 (ERCC6)
Cockayne syndrome, type A (ERCC8)
Cockayne syndrome, type B (ERCC6)
Contractural arachnodactyly, congenital (FBN2)
De Sanctis-Cacchione syndrome (ERCC6)
Genitopatellar syndrome (KAT6B)
Intellectual developmental disorder, AR 5 (NSUN2)
Ischiocoxopodopatellar syndrome with/-out pulmonary arterial hypertension (TBX4)
Meier-Gorlin syndrome 1 (ORC1)
Meier-Gorlin syndrome 2 (ORC4)
Meier-Gorlin syndrome 3 (ORC6)
Meier-Gorlin syndrome 4 (CDT1)
Meier-Gorlin syndrome 5 (CDC6)
Meier-Gorlin syndrome 6 (GMNN)
Meier-Gorlin syndrome 7 (CDC45)
Meier-Gorlin syndrome 8 (MCM5)
Mowat-Wilson syndrome (ZEB2)
Nail-patella syndrome (LMX1B)
RAPADILINO syndrome (RECQL4)
Rothmund-Thomson syndrome, type 2 (RECQL4)
Say-Barber-Biesecker-Young-Simpson variant of Ohdo, SBBYSS, syndrome (KAT6B)
Toriello-Carey syndrome (PGAP3, DDX3X, UBE3B)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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