Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).
And another 2 symptoms. If you need more information about this disease we can help you.
Panel Name, Specifity and genes Tested/covered |
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![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
CEP41, TMEM237, INPP5E, AHI1, B9D1, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, KIF7, MKS1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
KIF14, B9D1, TCTN3, TMEM216, TCTN2, CSPP1, TMEM107, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, TMEM231, MKS1, NPHP3
Specificity
7 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)
View the complete list with 55 more genes
Specificity
2 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
KIF14, B9D1, TCTN3, TMEM216, TCTN2, CSPP1, TMEM107, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, TMEM231, MKS1, NPHP3
Specificity
7 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PYROPOIKILOCYTOSIS, HEREDITARY; HPP MELANOMA-PANCREATIC CANCER SYNDROME