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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessOpitz G/BBB syndroms, differential diagnosis

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Summary

Short information

A comprehensive, differential diagnostic panel containing 2 core candidate genes and altogether 16 curated genes accoding to the clinical diagnosis

ID
OP0459
Number of genes
2 Accredited laboratory test
Examined sequence length
8,0 kb (Core-/Core-canditate-Genes)
12,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • Amniotic fluid (after amnocentesis)
  • Chorionic villus
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FLNA7920NM_001456.4XL
COL2A14464NM_001844.5AD

Informations about the disease

Synonyms
  • Acampomelic campomelic dysplasia (SOX9)
  • Alias: Hypertelorism-hypospadias syndrome
  • Alias: Hypertelorism-oesophageal abnormality-hypospadias syndrome
  • Alias: Hypospadias-dysphagia syndrome
  • Alias: Opitz BBB/G syndrome
  • Alias: Opitz BBBG syndrome
  • Alias: Opitz G/BBB syndrome
  • Alias: Opitz-Frias syndrome
  • Allelic: ADULT syndrome (TP63)
  • Allelic: Achondrogenesis Ib (SLC26A2)
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Congenital short bowel syndrome (FLNA)
  • Allelic: Epiphyseal dysplasia, multiple, 4 (SLC26A2)
  • Allelic: Heterotopia, periventricular, 1 (FLNA)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Limb-mammary syndrome (TP63)
  • Allelic: Popliteal pterygium syndrome 1 (IRF6)
  • Allelic: Split-hand/foot malformation 4 (TP63)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Atelosteogenesis, type II, includes clefting [panelapp] (SLC26A2)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Cleft palate, toe syndactyly, periventricular nodular heterotopia [panelapp] (NEDD4L)
  • Craniofrontonasal dysplasia (EFNB1)
  • De la Chapelle dysplasia, includes clefting [panelapp], 256050
  • Diastrophic dysplasia, broad bone-platyspondylic variant, incl. clefting (SLC26A2)
  • Diastrophic dysplasia, includes clefting [panelapp] (SLC26A2)
  • Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (TP63)
  • FG syndrome 2 (FLNA)
  • FG syndrome 4 (CASK)
  • Facial clefting, oblique, 1 (SPECC1L)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Glass syndrome: ID, micrognathia, downslant. palpebral fiss., cleft palate, crowded teeth (SATB2)
  • Hardikar syndrome (MED12)
  • Hay-Wells syndrome (TP63)
  • Intellectual developmental disorder, microcephaly with pontine + cerebellar hypoplasia (CASK)
  • KBG syndrome (ANKRD11)
  • Lujan-Fryns syndrome (MED12)
  • Melnick-Needles syndrome (FLNA)
  • Mental retardation, with/-out nystagmus (CASK)
  • Mowat-Wilson syndrome (ZEB2)
  • Ohdo syndrome, XL (MED12)
  • Opitz GBBB syndrome, type I (MID1)
  • Opitz GBBB syndrome, type II (SPECC1L)
  • Opitz-Kaveggia syndrome (MED12)
  • Orofacial Clefting with skeletal features [panelapp] SLC26A2)
  • Orofacial cleft 6 (IRF6)
  • Orofacial cleft 8 (TP63)
  • Otopalatodigital syndrome, type I (FLNA)
  • Otopalatodigital syndrome, type II (FLNA)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Rapp-Hodgkin syndrome (TP63)
  • Stickler syndrome, type I (COL2A1)
  • Teebi hypertelorism syndrome (SPECC1L)
  • van der Woude syndrome 1 (IRF6)
Heredity, heredity patterns etc.
  • AD
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined