English
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
ID
SP9928
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 19 |
Untersuchte Sequenzlänge
6,3 kb (Core-/Core-canditate-Gene)
47,5 kb (Erweitertes Panel: inkl. additional genes)
47,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| KAT6B | 6222 | NM_012330.4 | AD | |
| CDC45 | 1819 | NM_001178010.2 | AR | |
| CDC6 | 1683 | NM_001254.4 | AR | |
| CDT1 | 1641 | NM_030928.4 | AR | |
| DDX3X | 1986 | NM_001193416.3 | XL | |
| ERCC6 | 4482 | NM_000124.4 | AR | |
| ERCC8 | 1191 | NM_000082.4 | AR | |
| FBN2 | 8739 | NM_001999.4 | AD | |
| FOXL2 | 1131 | NM_023067.4 | AD, AR | |
| GMNN | 670 | NM_001251989.2 | AD | |
| LMX1B | 1188 | NM_002316.4 | AD | |
| MCM5 | 2205 | NM_006739.4 | AR | |
| ORC1 | 2586 | NM_004153.4 | AR | |
| ORC4 | 1311 | NM_002552.5 | AR | |
| ORC6 | 759 | NM_014321.4 | AR | |
| PGAP3 | 963 | NM_033419.5 | AR | |
| RECQL4 | 3628 | NM_004260.4 | AR | |
| TBX4 | 1638 | NM_018488.3 | AD | |
| ZEB2 | 3645 | 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.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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