Retinitis Pigmentosa 71; Rp71

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 71; Rp71

  • Scoliosis
  • Delayed speech and language development
  • Abnormality of the skeletal system
  • Edema
  • Blindness
  • Obesity
  • Rod-cone dystrophy
  • Polydactyly
  • Elevated hepatic transaminase
  • Nyctalopia

And another 9 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Retinitis Pigmentosa 71; Rp71 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 %
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 %
Nephronophthisis Deletion/Duplication Panel.

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

SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
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 %
Nephronophthisis Sequencing Panel.

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

SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
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 %
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 46 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THYROID DYSHORMONOGENESIS 4; TDH4 HEMOCHROMATOSIS, TYPE 1; HFE1 FLOATING-HARBOR SYNDROME; FLHS CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR SMITH-LEMLI-OPITZ SYNDROME; SLOS ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO