English
ErkrankungHartsfield-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hartsfield-Syndrom mit zusammen genommen 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP1775
Anzahl Gene
22
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
2,5 kb (Core-/Basis-Gene)
84,8 kb (Erweitertes Panel)
84,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| FGFR1 | 2469 | AD und/oder Dig | |
| CDON | 3795 | AD | |
| CENPF | 9403 | AR | |
| CNOT1 | 7401 | AD | |
| DHCR7 | 1428 | AR | |
| DISP1 | 4575 | AD und/oder Dig | |
| DLL1 | 2172 | AD | |
| FGF8 | 735 | AD | |
| GLI2 | 4761 | AD | |
| KMT2D | 16614 | AD und/oder SMu und/oder Sus und/oder Impr | |
| PPP1R12A | 3321 | AD | |
| PTCH1 | 4344 | AD und/oder SMu | |
| RAD21 | 1896 | AD und/oder AR und/oder SMu und/oder Impr | |
| SHH | 1389 | AD und/oder Dig | |
| SIX3 | 999 | AD und/oder AR | |
| SMC1A | 3702 | XLD und/oder Impr | |
| SMC3 | 3654 | AD und/oder SMu und/oder Impr | |
| STAG2 | 3807 | XL und/oder SMu | |
| STIL | 3867 | AR | |
| TGIF1 | 819 | AD | |
| TP63 | 2043 | AD und/oder Sus | |
| ZIC2 | 1599 | AD |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_HP1775
Synonyme
- Alias: FGFR1-related Hartsfield syndrome
- Alias: Hartsfield-Bixler-Demyer syndrome
- Alias: Holoprosencephaly split hand/foot syndrome
- Alias: Holoprosencephaly, ectrodactyly + bilateral cleft lip/palate
- Alias: Holoprosencephaly, hypertelorism + ectrodactyly syndrome
- Alias: Holoprosenzephalie-Ektrodaktylie-Lippen-Kiefer-Gaumenspalte-Syndrom
- Allelic: ADULT [Acro-Dermato-Ungual-Lacrimal-Tooth] syndrome (TP63)
- Allelic: Hay-Wells syndrome [Ankyloblepharon-ectodermal defects-cleft lip/palate] (TP63)
- Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
- Allelic: Jackson-Weiss syndrome (FGFR1)
- Allelic: Limb-mammary syndrome (TP63)
- Allelic: Microphthalmia with coloboma 5 (SHH)
- Allelic: Mullegama-Klein-Martinez syndrome (STAG2)
- Allelic: Osteoglophonic dysplasia (FGFR1)
- Allelic: Pfeiffer syndrome (FGFR1)
- Allelic: Rapp-Hodgkin syndrome [anhidrotic ectodermal dysplasia, cleft lip/palate] (TP63)
- Allelic: Schizencephaly (SHH, SIX3)
- Allelic: Split-hand/foot malformation 4 (TP63)
- Allelic: Trigonocephaly 1 (FGFR1)
- Cornelia de Lange syndrome 2 (SMC1A)
- Cornelia de Lange syndrome 4 (RAD21)
- Culler-Jones syndrome (GLI2)
- Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
- Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (TP63)
- 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 9 (GLI2)
- Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
- Kabuki syndrome 1 (KMT2D)
- Microcephaly 7, primary, AR (STIL)
- Mungan syndrome (RAD21)
- Neurodevelopmental disorder with nonspecific brain abnormalities with/-out seizures (DLL1)
- Orofacial cleft 8 (TP63)
- Single median maxillary central incisor (SHH)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Stromme syndrome (CENPF)
- Vissers-Bodmer syndrome (CNOT1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Impr
- AD und/oder Dig
- AD und/oder SMu
- AD und/oder SMu und/oder Impr
- AD und/oder SMu und/oder Sus und/oder Impr
- AD und/oder Sus
- AR
- XL und/oder SMu
- XLD und/oder Impr
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatik und klinische Interpretation
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