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

IllnessPallister-Hall syndrome, differential diagnoses

Summary

Short information

Comprehensive differential diagnostic panel for Pallister-Hall syndrome containing 1 core gene, 4 additional core candidate genes and altogether 23 curated genes according to the clinical signs

ID
PP2271
Number of genes
5 Accredited laboratory test
Examined sequence length
19,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CPLANE19864NM_023073.4AR
DHCR71428NM_001360.3AR
GLI34743NM_000168.6AD
MKKS1713NM_018848.3AR
TBX51557NM_000192.3AD

Informations about the disease

Clinical Comment

Pleiotropic AD malformative disorder with hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, rarely renal abnormalities, genitourinary malformations

DD eventually also Bardet-Biedl syndrome genes: BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, CEP290, WDPCP, SDCCAG8, LZTFL1, BBIP1, IFT27

 

Synonyms
  • DD: Bardet-Biedl, Holt-Oram, McKusick-Kaufman, Smith-Lemli-Opitz syndromes
  • Allelic: Cone-rod dystrophy 16 (CFAP418)
  • Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
  • Allelic: Hypothalamic hamartoma, somatic (GLI3)
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: Retinitis pigmentosa 55 (ARL6)
  • Allelic: Retinitis pigmentosa 64 (CFAP418)
  • Allelic: Retinitis pigmentosa 71 (IFT172)
  • Bardet-Biedl syndrome 1, modifier of (ARL6)
  • Bardet-Biedl syndrome 11 (TRIM32)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • 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 20 (IFT74)
  • Bardet-Biedl syndrome 21 (CFAP418)
  • Bardet-Biedl syndrome 3 (ARL6)
  • Bardet-Biedl syndrome 6 (MKKS)
  • Bardet-Biedl syndrome 8 (TTC8)
  • Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
  • Curry-Jones syndrome, somatic mosaic (SMO)
  • Holt-Oram syndrome (TBX5)
  • Joubert syndrome 17 (C5orf42 syn. CPLANE1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 5 (CEP290)
  • Leber congenital amaurosis 10 (CEP290)
  • McKusick-Kaufman syndrome (MKKS)
  • Meckel syndrome 1 (MKS1)
  • Meckel syndrome 4 (CEP290)
  • Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
  • Nephronophthisis 15 (CEP164)
  • Orofaciodigital syndrome VI (C5orf42 syn. CPLANE1)
  • Pallister-Hall syndrome (GLI3)
  • Pallister-Hall-like syndrome (SMO)
  • Senior-Loken 6 (CEP290)
  • Senior-Loken syndrome 7 (SDCCAG8)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Smith-Lemli-Opitz syndrome (DHCR7)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined