Nephronophthisis 15; Nphp15

Clinical Features

Top most frequent phenotypes and symptoms related to Nephronophthisis 15; Nphp15

  • Seizures
  • Global developmental delay
  • Nystagmus
  • Abnormal facial shape
  • Blindness
  • Obesity
  • Polydactyly
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Retinal degeneration

And another 5 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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Nephronophthisis 15; Nphp15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Nephronophthisis 15 (sequence analysis of CEP164 gene).

By CGC Genetics (Portugal).

CEP164
Specificity
100 %
Genes
100 %
Nephronophthisis (NGS panel for 19 genes).

By CGC Genetics (Portugal).

SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, NPHP1, NPHP3
Specificity
6 %
Genes
100 %
Ciliopathies (NGS panel for 90 genes).

By CGC Genetics (Portugal).

SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, NPHP1, NPHP3
Specificity
6 %
Genes
100 %
Nephronophthisis and Senior-Loken Syndrome via CEP164 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CEP164
Specificity
100 %
Genes
100 %

We have 32 more panels available in our App

Get the app

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 PILOMATRIXOMA IMMUNODEFICIENCY 50; IMD50 FARBER LIPOGRANULOMATOSIS; FRBRL COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 ALOPECIA AREATA 1; AA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more