Meckel Syndrome, Type 11; Mks11
Clinical Features
Phenotypes and symptoms related to Meckel Syndrome, Type 11; Mks11
- Polydactyly
- Oligohydramnios
- Encephalocele
- Polycystic kidney dysplasia
- Occipital encephalocele
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.Meckel Syndrome, Type 11; Mks11 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Syndromic Autism Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)
View the complete list with 63 more genes
Specificity
2 %
Genes
100 % |
TMEM231 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
TMEM231
Specificity
100 %
Genes
100 % |
TMEM231 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
TMEM231
Specificity
100 %
Genes
100 % |
Joubert/Meckel-Gruber syndrome Panel.
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 % |
Meckel Gruber Syndrome Sequencing Panel.
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 % |
Renal Cystic Disorders Sequencing Panel.
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 % |
Meckel Gruber Syndrome Deletion/Duplication Panel.
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 % |
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel.
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 % |
You can get up to 37 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 MYOTONIA, POTASSIUM-AGGRAVATED JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA ALEXANDER DISEASE; ALXDRD BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1