IllnessPrenatal holoprosencephaly, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Prenatal holoprosencephaly comprising 11 and altogether 24 curated genes according to the clinical signs
ID
PP0005
Number of genes
18
Accredited laboratory test
Examined sequence length
22,2 kb (Core-/Core-canditate-Genes)
49,9 kb (Extended panel: incl. additional genes)
49,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- Amniotic fluid (after amnocentesis)
- Chorionic villus
- EDTA-anticoagulated blood (3-5 ml)
- Umbilical cord blood
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
CDON | 3795 | NM_016952.5 | AD | |
DHCR7 | 1428 | NM_001360.3 | AR | |
DISP1 | 4575 | NM_032890.5 | AD | |
FGF8 | 735 | NM_033163.5 | AD | |
FGFR1 | 2469 | NM_023110.3 | AD | |
PTCH1 | 4344 | NM_000264.5 | AD | |
SHH | 1389 | NM_000193.4 | AD | |
SIX3 | 999 | NM_005413.4 | AD | |
TGIF1 | 819 | NM_173208.3 | AD | |
ZIC2 | 1599 | NM_007129.5 | AD | |
CNOT1 | 7401 | NM_001265612.2 | AD | |
DLL1 | 2172 | NM_005618.4 | AD | |
GLI2 | 4761 | NM_005270.5 | AD | |
HS2ST1 | 1129 | NM_012262.4 | AR | |
PPP1R12A | 3321 | NM_001143885.2 | AD | |
SMC1A | 3702 | NM_006306.4 | XL | |
STAG2 | 3807 | NM_001042749.2 | XL | |
SUFU | 1455 | NM_016169.4 | AD |
Informations about the disease
Clinical Comment
Complex brain malformation resulting from incomplete cleavage of the prosencephalon between the 18th-28th day of gestation, affecting forebrain + face, resulting in neurological + facial anomalies of variable severity
Synonyms
- Alias: Prenatal cyclopia
- Alias: Prenatal signs of arhinencephaly
- Allelic: Basal cell nevus syndrome (PTCH1)
- Allelic: Basal cell nevus syndrome (SUFU)
- Allelic: Brain malformations [panelapp] (PLCH1)
- Allelic: Jackson-Weiss syndrome (FGFR1)
- Allelic: Medulloblastoma, desmoplastic (SUFU)
- Allelic: Severe developmental delay [panelapp] (PLCH1)
- Allelic: Vissers-Bodmer syndrome (CNOT1)
- 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 [panelapp] (PLCH1)
- Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
- Hypogonadotropic hypogonadism 6 with or without 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: megaduodenum, Barrett esophagus, different cardiac abnormalities (RAD21)
- Neurodevelopmental disorder with nonspecific brain abnormalities with/-out seizures (DLL1)
- Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
- Schizencephaly (SHH, SIX3)
- Single median maxillary central incisor (SHH)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Steinfeld syndrome [GeneReviews] (CDON)
- Stromme syndrome (CENPF)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q04.2
Bioinformatics and clinical interpretation
No text defined