©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPrenatal holoprosencephaly, differential diagnosis

Request form illness

Summary

Short information

Comprehensive differential diagnostic panel for Prenatal holoprosencephaly co^ntaining 10 core candidate genes 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)
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

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CDON3795NM_016952.5AD
DHCR71428NM_001360.3AR
DISP14575NM_032890.5AD
FGF8735NM_033163.5AD
FGFR12469NM_023110.3AD
PTCH14344NM_000264.5AD
SHH1389NM_000193.4AD
SIX3999NM_005413.4AD
TGIF1819NM_173208.3AD
ZIC21599NM_007129.5AD
CNOT17401NM_001265612.2AD
DLL12172NM_005618.4AD
GLI24761NM_005270.5AD
HS2ST11129NM_012262.4AR
PPP1R12A3321NM_001143885.2AD
SMC1A3702NM_006306.4XL
STAG23807NM_001042749.2XL
SUFU1455NM_016169.4AD

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

Bioinformatics and clinical interpretation

No text defined