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Klinische FragestellungHoloprosenzephalie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Holoprosenzephalie mit 10 Leitlinien-kuratierten bzw. insgesamt 24 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP9949
Anzahl Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 19 |
Untersuchte Sequenzlänge
22,6 kb (Core-/Core-canditate-Gene)
66,6 kb (Erweitertes Panel: inkl. additional genes)
66,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Locipanel
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CDON | 3795 | NM_016952.5 | AD | |
| DISP1 | 4575 | NM_032890.5 | AD | |
| FGF8 | 735 | NM_033163.5 | AD | |
| FGFR1 | 2469 | NM_023110.3 | AD | |
| GLI2 | 4761 | NM_005270.5 | AD | |
| SHH | 1389 | NM_000193.4 | AD | |
| SIX3 | 999 | NM_005413.4 | AD | |
| SUFU | 1455 | NM_016169.4 | AD | |
| TGIF1 | 819 | NM_173208.3 | AD | |
| ZIC2 | 1599 | NM_007129.5 | AD | |
| CNOT1 | 7401 | NM_001265612.2 | AD | |
| DHCR7 | 1428 | NM_001360.3 | AR | |
| DLL1 | 2172 | NM_005618.4 | AD | |
| HS2ST1 | 1129 | NM_012262.4 | AR | |
| KMT2D | 16614 | NM_003482.4 | AD | |
| PPP1R12A | 3321 | NM_001143885.2 | AD | |
| PTCH1 | 4344 | NM_000264.5 | AD | |
| SMC1A | 3702 | NM_006306.4 | XL | |
| STAG2 | 3807 | NM_001042749.2 | XL |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_HP9949
Synonyme
- Alias: "Cyclopia"
- Alias: "Zyklopie"
- Alias: Holoprosencephaly sequence
- Alias: Isolated holoprosencephaly
- Alias: Signs of arhinencephaly
- Allelic: Basal cell nevus syndrome (PTCH1)
- Allelic: Basal cell nevus syndrome (SUFU)
- Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
- Allelic: Jackson-Weiss syndrome (FGFR1)
- Allelic: Medulloblastoma, desmoplastic (SUFU)
- Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
- Cornelia de Lange syndrome 3 (SMC3)
- Cornelia de Lange syndrome 4 (RAD21)
- Culler-Jones syndrome (GLI2)
- Genitourinary and/or/ brain malformation syndrome (PPP1R12A)
- Hartsfield syndrome (FGFR1)
- Holoprosencephaly 10 (DISP1)
- Holoprosencephaly 11 (CDON)
- Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
- Holoprosencephaly 13, XL (STAG2)
- Holoprosencephaly 2 (SIX3)
- Holoprosencephaly 3 (SHH)
- Holoprosencephaly 4 (TGIF1)
- Holoprosencephaly 5 (ZIC2)
- Holoprosencephaly 7 (PTCH1)
- Holoprosencephaly 9 (GLI2)
- Holoprosencephaly spectrum, severe developmental delay, brain malformations [panelapp] (PLCH1)
- Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
- Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
- Joubert syndrome 32 (SUFU)
- Kabuki syndrome 1 (KMT2D)
- Microcephaly 7, primary, AR (STIL)
- Microphthalmia with coloboma 5 (SHH)
- Mullegama-Klein-Martinez syndrome (STAG2)
- Mungan syndrome (RAD21)
- Neurodevelopmental disorder with nonspecific brain abnormalities with/-out seizures (DLL1)
- Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
- Schizencephaly (SHH, SIX3)
- Septooptic dysplasia (HESX1)
- Single median maxillary central incisor (SHH)
- Stromme syndrome (CENPF)
- Vissers-Bodmer syndrome (CNOT1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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