Heterotaxy, Visceral, 6, Autosomal; Htx6

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Heterotaxy, Visceral, 6, Autosomal; Htx6

CFAP53

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Heterotaxy, Visceral, 6, Autosomal; Htx6

Cough
Pulmonic stenosis
Cyanosis
Sinusitis
Situs inversus totalis
Dextrocardia
Atrioventricular canal defect
Transposition of the great arteries
Double outlet right ventricle
Abdominal situs inversus

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Heterotaxy, Visceral, 6, Autosomal; Htx6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Heterotaxy V2 Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL Specificity 6 % Genes 100 %
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SPAG1, ZIC3, CFAP298, MMP21, NME8, LRRC6, ACVR2B, INVS, DNAI2, ZMYND10, AK7, DNAAF2, DNAAF4, DNAL1, NKX2-5, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40 , (...) View the complete list with 16 more genes Panel complete gene list SPAG1, ZIC3, CFAP298, MMP21, NME8, LRRC6, ACVR2B, INVS, DNAI2, ZMYND10, AK7, DNAAF2, DNAAF4, DNAL1, NKX2-5, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CFAP53, CCDC114, ANKS6, CCDC151, PIH1D3, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1, LEFTY2, CCDC103, FOXH1, GAS8, GDF1, NODAL Specificity 3 % Genes 100 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RPGR, SDCCAG8, SPAG1, CEP41, RSPH1, ZIC3, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, ACVR2B, INVS, CEP83, DCDC2, WDR19, CCNO , (...) View the complete list with 73 more genes Panel complete gene list RPGR, SDCCAG8, SPAG1, CEP41, RSPH1, ZIC3, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, ACVR2B, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7, CFTR, NPHP4, KIF14, ZMYND10, TTC8, DNAAF2, RSPH9, INPP5E, DNAAF4, RSPH4A, AHI1, DNAL1, B9D1, DRC1, TCTN3, NKX2-5, TMEM216, CCDC39, ARL13B, ARMC4, TTC21B, OFD1, TCTN2, CPLANE1, DNAAF5, CCDC40, TCTN1, CSPP1, BBS10, CFAP53, CCDC114, BBS12, ANKS6, TMEM138, WDPCP, BBIP1, CCDC151, TMEM67, B9D2, IQCB1, CEP290, RPGRIP1L, CEP164, CC2D2A, DNAH11, GLIS2, DNAH5, DNAH8, DNAI1, CCDC65, BBS9, DNAAF3, KIF7, DNAAF1, LEFTY2, CCDC103, TMEM231, FOXH1, GDF1, LZTFL1, MKKS, MKS1, NODAL, NPHP1, NPHP3, PDE6D, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %
Heterotaxy, visceral type 6. By Centogene AG - the Rare Disease Company (Germany). CFAP53 Specificity 100 % Genes 100 %
Congenital Heart Defects Panel. By CeGaT GmbH (Germany). SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...) View the complete list with 24 more genes Panel complete gene list SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53, NAA15, LEFTY2, NKX2-6, ELN, FLNA, FOXC1, FOXH1, GATA4, GATA6, GDF1, GJA1, GJA5, IRX4, JAG1, SMAD2, SMAD6, MYH6, MYH7, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, RBM10 Specificity 3 % Genes 100 %
Invitae Congenital Heart Defects and Heterotaxy Panel. By Invitae (United States). RIT1, RPGR, BRAF, SOS1, SPAG1, TBX1, TBX5, RSPH1, ZIC3, CFAP298, NEK8, NSD1, ACTC1, CBL, SHOC2, NME8, LRRC6, ZNF423, ACVR2B, INVS , (...) View the complete list with 62 more genes Panel complete gene list RIT1, RPGR, BRAF, SOS1, SPAG1, TBX1, TBX5, RSPH1, ZIC3, CFAP298, NEK8, NSD1, ACTC1, CBL, SHOC2, NME8, LRRC6, ZNF423, ACVR2B, INVS, CCNO, DNAI2, ZMYND10, TTC8, DNAAF2, CHD7, BCOR, RSPH3, RSPH9, DNAAF4, RSPH4A, MED13L, DNAL1, DRC1, NKX2-5, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, BBS10, CFAP53, CCDC114, ANKS6, CCDC151, CEP290, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, LEFTY2, CCDC103, NKX2-6, ELN, FOXH1, MCIDAS, GAS8, GATA4, GDF1, GJA1, ALMS1, GPC3, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MEIS2, MKS1, NF1, NODAL, NOTCH1, NOTCH2, NPHP3, NR2F2, NRAS, PTPN11, RAF1 Specificity 2 % Genes 100 %
CFAP53. By Fulgent Genetics Fulgent Genetics (United States). CFAP53 Specificity 100 % Genes 100 %
HETEROTAXY & SITUS INVERSUS. By Laboratorio de Genetica Clinica SL (Spain). ZIC3, MMP21, CRELD1, ACVR2B, PKD1L1, CFC1, NKX2-5, CFAP53, LEFTY2, FOXH1, GDF1, NODAL Specificity 9 % Genes 100 %

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Sources and references

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