Klinische FragestellungHartsfield-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Hartsfield-Syndrom mit zusammen genommen 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose

HP1775

Anzahl Loci

Loci-Typ	Anzahl
Gen	20

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

4,6 kb (Core-/Core-canditate-Gene)
77,5 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
FGFR1	2469	136350	NM_023110.3	AD
TP63	2043	603273	NM_003722.5	AD
ANOS1	2043	300836	NM_000216.4	XLR
CDON	3795	608707	NM_016952.5	AD
CENPF	9403	600236	NM_016343.4	AR
CNOT1	7401	604917	NM_001265612.2	AD
DHCR7	1428	602858	NM_001360.3	AR
DISP1	4575	607502	NM_032890.5	AD
FGF8	735	600483	NM_033163.5	AD
GLI2	4761	165230	NM_005270.5	AD
KMT2D	16614	602113	NM_003482.4	AD
PTCH1	4344	601309	NM_000264.5	AD
RAD21	1896	606462	NM_006265.3	AD, AR
SHH	1389	600725	NM_000193.4	AD
SIX3	999	603714	NM_005413.4	AD
SMC1A	3702	300040	NM_006306.4	XL
SMC3	3654	606062	NM_005445.4	AD
STAG2	3807	300826	NM_001042749.2	XL
TGIF1	819	602630	NM_173208.3	AD
ZIC2	1599	603073	NM_007129.5	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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