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IllnessHeterotaxy - Situs inversus, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Heterotaxia - situs inversus, differential diagnosis, comprising 9 or altogether 41 curated genes according to the clinical signs

ID
HP9947
Number of loci
Loci typeCount
Gen23
Accredited laboratory test
Examined sequence length
38,7 kb (Core-/Core-canditate-Genes)
82,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CFAP531545NM_145020.5AR
DNAH1113551NM_001277115.2AR
DNAH513875NM_001369.3AR
DNAI12100NM_012144.4AR
DNAI21782NM_001172810.3AR
LRRC561640NM_198075.4AR
MMP211717NM_147191.1AR
NODAL1044NM_018055.5AD
ZIC31404NM_003413.4XLR
ACVR2B1539NM_001106.4AD
CCDC392826NM_181426.2AR
CCDC403429NM_017950.4AR
CFAP451668NM_012337.3AR
CFAP521877NM_001080556.2AR
CRELD11269NM_001031717.4AD
DNAAF12178NM_178452.6AR
DNAAF22370NM_018139.3AR
DNAAF31827NM_001256714.1AR
DNAH612648NM_001370.2AR
GDF11119NM_001492.6AR
MNS11498NM_018365.4AR
NKX2-5975NM_004387.4AD
PKD1L18550NM_138295.5AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_HP9947

 

Synonyms
  • Alias: Situs inversus, Isomerismus
  • Allelic: Atrioventricular septal defect, susceptibility to, 2 (CRELD1)
  • Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
  • Allelic: Dyslexia, susceptibility to, 1 (DNAAF4)
  • Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
  • Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: VACTERL association, XL (ZIC3)
  • Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
  • Atrioventricular septal defect, partial, with heterotaxy syndrome (CRELD1)
  • Ciliary dyskinesia, primary, 1, with/-out situs inversus (DNAI1)
  • Ciliary dyskinesia, primary, 10 (DNAAF2)
  • Ciliary dyskinesia, primary, 13 (DNAAF1)
  • Ciliary dyskinesia, primary, 14 (CCDC39)
  • Ciliary dyskinesia, primary, 15 (CCDC40)
  • Ciliary dyskinesia, primary, 16 (DNAL1)
  • Ciliary dyskinesia, primary, 17 (CCDC103)
  • Ciliary dyskinesia, primary, 18 (DNAAF5)
  • Ciliary dyskinesia, primary, 19 (DNAAF11)
  • Ciliary dyskinesia, primary, 2 (DNAAF3)
  • Ciliary dyskinesia, primary, 20 (ODAD1 syn. CCDC114)
  • Ciliary dyskinesia, primary, 22 (ZMYND10)
  • Ciliary dyskinesia, primary, 23 (ODAD2 syn. ARMC4)
  • Ciliary dyskinesia, primary, 25 (DNAAF49
  • Ciliary dyskinesia, primary, 26 (CFAP298 syn. C21orf59)
  • Ciliary dyskinesia, primary, 28 (SPAG1)
  • Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
  • Ciliary dyskinesia, primary, 35 (TTC25)
  • Ciliary dyskinesia, primary, 36, XL (DNAAF6)
  • Ciliary dyskinesia, primary, 37 (DNAH1)
  • Ciliary dyskinesia, primary, 38 (CFAP300 syn. C11orf70)
  • Ciliary dyskinesia, primary, 39 (LRRC56)
  • Ciliary dyskinesia, primary, 40 (DNAH9)
  • Ciliary dyskinesia, primary, 43 (FOXJ1)
  • Ciliary dyskinesia, primary, 6 (NME8)
  • Ciliary dyskinesia, primary, 7, with/-out situs inversus (DNAH11)
  • Ciliary dyskinesia, primary, 9, with/-out situs inversus (DNAI2)
  • Congenital heart defects, multiple types, 6 (GDF1)
  • Conotruncal heart malformations, variable (NKX2-5)
  • Heterotaxy, visceral, 1, XL (ZIC3)
  • Heterotaxy, visceral, 2, AD (CFC1)
  • Heterotaxy, visceral, 4, AD (ACVR2B)
  • Heterotaxy, visceral, 5 (NODAL)
  • Heterotaxy, visceral, 6, AR (CFAP53)
  • Heterotaxy, visceral, 7, AR (MMP21)
  • Heterotaxy, visceral, 8, AR (PKD1L1)
  • Heterotaxy, visceral, 9, AR, with male infertility (MNS1)
  • Heterotaxy, visceral; MONDO:0018677 (CFAP52)
  • Joubert syndrome 10 (OFD1)
  • Orofaciodigital syndrome I (OFD1)
  • Right atrial isomerism [Ivemark] (GDF1)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Situs inversus [MONDO:0010029] (CFAP45)
  • Tetralogy of Fallot (NKX2-5)
  • Ventricular septal defect 3 (NKX2-5)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined