Hydrolethalus Syndrome 1; Hls1

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 Hydrolethalus Syndrome 1; Hls1

HYLS1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Hydrolethalus Syndrome 1; Hls1

Micrognathia
Cleft palate
Low-set ears
Intrauterine growth retardation
Macrocephaly
Ventricular septal defect
Talipes equinovarus
Hydrocephalus
Microphthalmia
Hypospadias

And another 42 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital 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.

Hydrolethalus Syndrome 1; Hls1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HYLS1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). HYLS1 Specificity 100 % Genes 100 %
Hydrolethalus Syndrome 1 (sequence analysis of HYLS1 gene). By CGC Genetics (Portugal). HYLS1 Specificity 100 % Genes 100 %
Hydroletalus syndrome. By Laboratory of Genetics BioTe21 Adam Master (Poland). HYLS1 Specificity 100 % Genes 100 %
Hydrolethalus syndrome. By Centogene AG - the Rare Disease Company (Germany). HYLS1 Specificity 100 % Genes 100 %
Ciliopathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). RPE65, RPGR, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, TSC1, TSC2, CEP41, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1 , (...) View the complete list with 92 more genes Panel complete gene list RPE65, RPGR, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, TSC1, TSC2, CEP41, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1, CDH23, TMEM237, CRELD1, PCDH15, USH1G, WHRN, TRIM32, NME8, ZNF423, ACVR2B, ADGRV1, INVS, WDR19, DNAI2, BBS7, CFTR, NPHP4, RD3, EVC2, RDH12, TTC8, DNAAF2, SPATA7, RSPH9, RSPH4A, AHI1, TOPORS, DNAL1, CRB1, CRX, B9D1, NKX2-5, TMEM216, CCDC39, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, CCDC40, TCTN1, BBS10, HYLS1, BBS12, TMEM138, WDPCP, XPNPEP3, CCDC28B, TMEM67, B9D2, IQCB1, CEP290, RPGRIP1L, CEP164, WDR35, CC2D2A, IFT80, DNAH11, GLIS2, DNAH5, DNAI1, DYNC2H1, IFT43, BBS9, DNAAF3, KIF7, DNAAF1, LEFTY2, LCA5, PCARE, EVC, AIPL1, TMEM231, FOXH1, GDF1, GUCY2D, IMPDH1, KCNJ13, LRAT, MKKS, MKS1, MYO7A, NEK1, NODAL, NPHP1, NPHP3, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 100 %
Ciliopathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). RPE65, RPGR, ATXN10, SDCCAG8, TSC1, TSC2, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1, CDH23, PCDH15, USH1G, WHRN , (...) View the complete list with 76 more genes Panel complete gene list RPE65, RPGR, ATXN10, SDCCAG8, TSC1, TSC2, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1, CDH23, PCDH15, USH1G, WHRN, TRIM32, NME8, ADGRV1, INVS, WDR19, DNAI2, BBS7, CFTR, NPHP4, RD3, EVC2, RDH12, TTC8, DNAAF2, SPATA7, RSPH9, RSPH4A, AHI1, TOPORS, DNAL1, CRB1, CRX, B9D1, TMEM216, CCDC39, ARL13B, TTC21B, OFD1, TCTN2, CCDC40, TCTN1, BBS10, HYLS1, BBS12, WDPCP, XPNPEP3, CCDC28B, TMEM67, B9D2, IQCB1, CEP290, RPGRIP1L, WDR35, CC2D2A, IFT80, DNAH11, GLIS2, DNAH5, DNAI1, DYNC2H1, IFT43, BBS9, KIF7, DNAAF1, LCA5, PCARE, EVC, AIPL1, FOXH1, GUCY2D, IMPDH1, KCNJ13, LRAT, MKKS, MKS1, MYO7A, NEK1, NODAL, NPHP1, NPHP3, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %
Ciliopathies NGS Panel. By Fulgent Genetics Fulgent Genetics (United States). RPE65, RPGR, ATXN10, SDCCAG8, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1, CDH23, PCDH15, USH1G, WHRN, TRIM32, NME8 , (...) View the complete list with 75 more genes Panel complete gene list RPE65, RPGR, ATXN10, SDCCAG8, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1, CDH23, PCDH15, USH1G, WHRN, TRIM32, NME8, ADGRV1, INVS, WDR19, DNAI2, BBS7, CFTR, NPHP4, RD3, EVC2, RDH12, TTC8, DNAAF2, SPATA7, RSPH9, RSPH4A, AHI1, TOPORS, DNAL1, CRB1, CRX, B9D1, NKX2-5, TMEM216, CCDC39, ARL13B, TTC21B, OFD1, TCTN2, CCDC40, TCTN1, BBS10, HYLS1, BBS12, WDPCP, XPNPEP3, CCDC28B, TMEM67, B9D2, IQCB1, CEP290, RPGRIP1L, WDR35, CC2D2A, IFT80, DNAH11, GLIS2, DNAH5, DNAI1, DYNC2H1, IFT43, BBS9, KIF7, DNAAF1, LCA5, PCARE, EVC, AIPL1, ALMS1, GUCY2D, IMPDH1, KCNJ13, LRAT, MKKS, MKS1, MYO7A, NEK1, NODAL, NPHP1, NPHP3, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %
HYLS1. By Fulgent Genetics Fulgent Genetics (United States). HYLS1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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