Bardet-biedl Syndrome 20; Bbs20

Description

BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).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 20; Bbs20

  • Intellectual disability
  • Microcephaly
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly

Incidence and onset information

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.


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Bardet-biedl Syndrome 20; Bbs20 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bardet-Biedl Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, ARL6, TRIM32, BBS7, TTC8, IFT74, BBS10, BBS12, WDPCP, CEP290, BBS9, IFT172, MKKS, MKS1, BBS1, BBS2, BBS4, BBS5
Specificity
6 %
Genes
100 %
Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Bardet-Biedl Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, ARL6, TRIM32, BBS7, TTC8, IFT74, BBS10, BBS12, WDPCP, CEP290, BBS9, IFT172, MKKS, MKS1, BBS1, BBS2, BBS4, BBS5
Specificity
6 %
Genes
100 %
Monogenic Obesity Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, IFT74, BBS10, BBS12, C8orf37, WDPCP, BBIP1, TMEM67, CEP290, BBS9, IFT172, LZTFL1, MKKS, MKS1, NPHP1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Comprehensive Monogenic Obesity Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, SDCCAG8, SIM1, TUB, UCP3, KDM6A, ARL6, RAB23, TRIM32, PHF6, KSR2, IFT27, BBS7, TTC8, MRAP2, IFT74, VPS13B, CPE, CUL4B, BBS10 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center (Netherlands).

SNCA, SNCB, SOD1, SORL1, SQSTM1, TARDBP, TYROBP, UBAP1, UBQLN2, VAPB, VCP, FIG4, OPTN, TREM2, VPS54, IFT74, CSF1R, CHMP2B, PSENEN, ARHGEF28 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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