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IllnessBardet-Biedl syndrome, differential diagnosis II [expanded supplementary panel]

Request form illness

Summary

Short information

Additional comprehensive differential diagnostic panel for Bardet-Biedl syndrome comprising 28 curated genes according to the clinical signs

ID
BP1271
Number of genes
1 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
3,4 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
GUCY2D3312NM_000180.4AD, AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_BP1271

 

Synonyms
  • Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
  • Allelic: Cone-rod dystrophy 6 (GUCY2D)
  • Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
  • Allelic: Pigmented paravenous chorioretinal atrophy (CRB1)
  • Allelic: Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
  • Allelic: Retinitis pigmentosa 20 (RPE65)
  • Allelic: Retinitis pigmentosa 87 with choroidal involvement (RPE65)
  • Allelic: Retinitis pigmentosa-12 (CRB1)
  • Alstrom syndrome (ALMS1)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 16 (SDCCAG8)
  • Bardet-Biedl syndrome 6 (MKKS)
  • COACH syndrome 1 (TMEM67)
  • COACH syndrome 2 (CC2D2A)
  • COACH syndrome 3 (RPGRIP1L)
  • Cranioectodermal dysplasia 4 (WDR19)
  • Joubert syndrome 17 (CPLANE1)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 27 (B9D1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 29 (TMEM107)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 34 (B9D2)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 9 (CC2D2A)
  • Leber congenital amaurosis 1 (GUCY2D)
  • Leber congenital amaurosis 10 (CEP290)
  • Leber congenital amaurosis 13 (RDH12)
  • Leber congenital amaurosis 2 (RPE65)
  • Leber congenital amaurosis 8 (CRB1)
  • McKusick-Kaufman syndrome (MKKS)
  • Meckel syndrome 1 (MKS1)
  • Meckel syndrome 10 (B9D2)
  • Meckel syndrome 11 (TMEM231)
  • Meckel syndrome 12 (KIF14)
  • Meckel syndrome 13 (TMEM107)
  • Meckel syndrome 14 (TXNDC15)
  • Meckel syndrome 2 (TMEM216)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 4 (CEP290)
  • Meckel syndrome 5 (RPGRIP1L)
  • Meckel syndrome 6 (CC2D2A)
  • Meckel syndrome 7 (NPHP3)
  • Meckel syndrome 8 (TCTN2)
  • Meckel syndrome 9 (B9D1)
  • Microcephaly 20, primary, AR (KIF14)
  • Nephronophthisis 1, juvenile (NPHP1)
  • Nephronophthisis 11 (TMEM67)
  • Nephronophthisis 13 (WDR19)
  • Nephronophthisis 3 (NPHP3)
  • Nephronophthisis 4 (NPHP4)
  • Orofaciodigital syndrome VI (CPLANE1)
  • Orofaciodigital syndrome XVI (TMEM107)
  • RHYNS syndrome (TMEM67)
  • Senior-Loken syndrome 1 (NPHP1)
  • Senior-Loken syndrome 4 (NPHP4)
  • Senior-Loken syndrome 5 (IQCB1)
  • Senior-Loken syndrome 6 (CEP290)
  • Senior-Loken syndrome 7 (SDCCAG8)
  • Senior-Loken syndrome 8 (WDR19)
  • Senior-Loken syndrome 9 (TRAF3IP1)
  • Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined