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IllnessBardet-Biedl syndrome, differential diagnosis I

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Summary

Short information

Comprehensive differential diagnostic panel for Bardet-Biedl syndrome containing 15 or 27 curated genes according to the clinical signs

ID
BP1270
Number of genes
23 Accredited laboratory test
Examined sequence length
31,4 kb (Core-/Core-canditate-Genes)
59,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ARL6561NM_177976.3AR, digenisch
BBS11782NM_024649.5AR, digenisch
BBS102172NM_024685.4AR
BBS122133NM_152618.3AR
BBS22166NM_031885.5AR
BBS41560NM_033028.5AR
BBS51026NM_152384.3AR
BBS72148NM_176824.3AR
BBS92664NM_198428.3AR
CEP2907440NM_025114.4AR
CFAP418624NM_177965.4AR
MKKS1713NM_018848.3AR
MKS11680NM_017777.4AR
SDCCAG82142NM_006642.5AR
TTC81518NM_198309.3AR
ALMS112504NM_015120.4AR
BBIP1279NM_001195306.2AR
IFT1725250NM_015662.3AR
IFT27558NM_006860.5AR
IFT743008NM_001099222.3AR
LZTFL1900NM_020347.4AR
TMEM672988NM_153704.6AR
WDPCP2241NM_015910.7AR

Informations about the disease

Clinical Comment

Bardet-Biedl syndrome (BBS) is a rare genetic disease that affects several body systems in childhood: Overweight, intellectual impairment, kidney, eye and genital abnormalities and sometimes polydactyly. The severity of the symptoms varies considerably, even between family members. Heredity is usually autosomal recessive with incomplete penetrance. Even after examination of over 20 potentially mutated genes, no genetic cause is found in 20-30% of patients.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1363/

 

Synonyms
  • Ciliopathy, genetically heterogeneous
  • Sympt.: Retinitis pigmentosa, obesity, kidney + behavioral dysfunction, hypogonadism, polydactyly
  • Allelic: Alstrom syndrome (ALMS1)
  • Allelic: Bardet-Biedl syndrome 1, modifier of (ARL6)
  • Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Allelic: Cone-rod dystrophy 16 (CFAP418)
  • Allelic: Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
  • Allelic: Joubert syndome 5 (CEP290)
  • Allelic: Joubert syndrome 28 (MKS1)
  • Allelic: Leber cong. amaurosis 10 (CEP290)
  • Allelic: McKusick-Kaufman syndrome (MKKS)
  • Allelic: Meckel syndrome 1 (MKS1)
  • Allelic: Meckel syndrome 4 (CEP290)
  • Allelic: Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
  • Allelic: Nephronophthisis 15 (CEP164)
  • Allelic: Oro-facio-digital syndrome type IX [panelapp green] (SCLT1)
  • Allelic: Retinitis pigmentosa 55 (ARL6)
  • Allelic: Retinitis pigmentosa 64 (CFAP418)
  • Allelic: Retinitis pigmentosa 71 (IFT1732)
  • Allelic: Retinitis pigmentosa 74 (BBS2)
  • Allelic: Senior-Loken 6 (CEP290)
  • Allelic: Senior-Loken syndrome 7 (SDCCAG8)
  • Allelic: Senior-Løken syndrome [panelapp green] (SCLT1)
  • Allelic: Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Bardet-Biedl syndrome 10 (BBS10)
  • Bardet-Biedl syndrome 11 (TRIM32)
  • Bardet-Biedl syndrome 12 (BBS12)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 15 (WDPCP)
  • Bardet-Biedl syndrome 16 (SDCCAG8)
  • Bardet-Biedl syndrome 17 (LZTFL1)
  • Bardet-Biedl syndrome 18 (BBIP1)
  • Bardet-Biedl syndrome 19 (IFT27)
  • Bardet-Biedl syndrome 2 (BBS2)
  • Bardet-Biedl syndrome 20 (IFT172)
  • Bardet-Biedl syndrome 21 (CFAP418)
  • Bardet-Biedl syndrome 22 (IFT74)
  • Bardet-Biedl syndrome 3 (ARL6)
  • Bardet-Biedl syndrome 4 (BBS4)
  • Bardet-Biedl syndrome 5 (BBS5)
  • Bardet-Biedl syndrome 6 (MKKS)
  • Bardet-Biedl syndrome 7 (BBS7)
  • Bardet-Biedl syndrome 8 (TTC8)
  • Bardet-Biedl syndrome 9 (BBS9)
Heredity, heredity patterns etc.
  • AR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined