English
Klinische FragestellungMartsolf-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Martsolf-Syndrom mit zusammen genommen 2 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP9238
Anzahl Gene
15
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
9,0 kb (Core-/Core-canditate-Gene)
29,0 kb (Erweitertes Panel: inkl. additional genes)
29,0 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 |
|---|---|---|---|---|
| RAB18 | 621 | NM_021252.5 | AR | |
| RAB3GAP1 | 2946 | NM_012233.3 | AR | |
| RAB3GAP2 | 4182 | NM_012414.4 | AR | |
| TBC1D20 | 1212 | NM_144628.4 | AR | |
| ALDH18A1 | 2388 | NM_002860.4 | AD, AR | |
| DHCR7 | 1428 | NM_001360.3 | AR | |
| ERCC1 | 972 | NM_202001.3 | AR | |
| ERCC2 | 2283 | NM_000400.4 | AR | |
| ERCC5 | 3561 | NM_000123.4 | AR | |
| ERCC6 | 4482 | NM_000124.4 | AR | |
| ERCC8 | 1191 | NM_000082.4 | AR | |
| ITPA | 585 | NM_033453.4 | AR | |
| PEX11B | 780 | NM_003846.3 | AR | |
| PYCR1 | 960 | NM_006907.4 | AR | |
| SIL1 | 1386 | NM_022464.5 | AR |
Infos zur Erkrankung
Synonyme
- Comp.: RAB18 deficiency + (Warburg-)micro syndrome
- Alias: Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom
- Alias: RAB18-Defizienz
- Allelic: Cockayne syndrome, type B (ERCC6)
- Allelic: De Sanctis-Cacchione syndrome (ERCC6)
- Allelic: Lung cancer, susceptibility to (ERCC6)
- Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
- Allelic: Premature ovarian failure 11 (ERRC6)
- Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
- Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
- Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
- Allelic: UV-sensitive syndrome 1 (ERCC6)
- Allelic: UV-sensitive syndrome 2 (ERCC8)
- Allelic: Xeroderma pigmentosum, group D (ERCC2)
- Allelic: Xeroderma pigmentosum, group G (ERCC5)
- Allelic: Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
- Cerebrooculofacioskeletal syndrome 1 (ERCC6)
- Cerebrooculofacioskeletal syndrome 2 (ERCC2)
- Cerebrooculofacioskeletal syndrome 3 (ERCC5)
- Cerebrooculofacioskeletal syndrome 4 (ERCC1)
- Cutis laxa, AD 3 (ALDH18A1)
- Cutis laxa, AR, type IIB (PYCR1)
- Cutis laxa, AR, type IIIA (ALDH18A1)
- Cutis laxa, AR, type IIIB (PYCR1)
- Developmental + epileptic encephalopathy 35 (ITPA)
- Inosine triphosphatase deficiency (ITPA)
- Marinesco-Sjogren syndrome (SIL1)
- Martsolf syndrome (RAPGAP1)
- Martsolf syndrome (RAPGAP2)
- Peroxisome biogenesis disorder 14B (PEX11B)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Warburg micro syndrome type 1 (RAB3GAP1)
- Warburg micro syndrome type 2 (RAB3GAP2)
- Warburg micro syndrome type 3 (RAB18)
- Warburg micro syndrome type 4 (TBC1D20)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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