Bardet-biedl Syndrome 11; Bbs11
Description
BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).
Clinical Features
Phenotypes and symptoms related to Bardet-biedl Syndrome 11; Bbs11
- Obesity
- Hypogonadism
- Polydactyly
- Abnormality of the kidney
- Retinopathy
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.Bardet-biedl Syndrome 11; Bbs11 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
Congenital Myopathy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Limb Girdle Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, DYSF, FKTN , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
Neuromuscular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
Bardet-Biedl Syndrome Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, INPP5E, ADIPOR1, BBS10, BBS12, C8orf37, WDPCP, BBIP1, CCDC28B, TMEM67, CEP290, BBS9, KCNJ13, LZTFL1, MKKS , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
Ciliopathies.
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 % |
You can get up to 125 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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