Nephronophthisis 7; Nphp7

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Nephronophthisis 7; Nphp7

GLIS2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Nephronophthisis 7; Nphp7

Abnormality of the kidney
Stage 5 chronic kidney disease
Nephronophthisis
Tubular atrophy

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.

Nephronophthisis 7; Nphp7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel complete gene list RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32, NME8, ADGRV1, INVS, WDR19, DNAI2, BBS7, CFTR, NPHP4, RD3, EVC2, RDH12, TTC8, DNAAF2, SPATA7, RSPH9, RSPH4A, TOPORS, DNAL1, CRB1, CRX, B9D1, NKX2-5, TMEM216, CCDC39, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, CCDC40, TCTN1, BBS10, BBS12, TMEM138, WDPCP, XPNPEP3, CCDC28B, TMEM67, IQCB1, CEP290, RPGRIP1L, WDR35, CC2D2A, IFT80, DNAH11, GLIS2, DNAH5, DNAI1, IFT43, BBS9, DNAAF3, KIF7, DNAAF1, LCA5, EVC, GATA4, GDF1, GUCY2D, IMPDH1, KCNJ13, LRAT, MKKS, MKS1, MYO7A, NODAL, NPHP1, NPHP3, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5 Specificity 2 % 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 Panel complete gene list SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7, NPHP4, KIF14, KIAA0586, TTC8, INPP5E, AHI1, B9D1, BMPER, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, BBS10, BBS12, ANKS6, TMEM138, WDPCP, XPNPEP3, TMEM107, TMEM67, GLIS3, B9D2, IQCB1, CEP290, KIAA0556, IFT140, RPGRIP1L, CEP164, CC2D2A, GLIS2, BBS9, IFT172, KIF7, TMEM231, JAG1, MKKS, MKS1, MUC1, NOTCH2, NPHP1, NPHP3, PDE6D, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5, REN 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 %
NPHP1, NPHP4, CEP290, RPGRIP1L, GLIS2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NPHP4, CEP290, RPGRIP1L, GLIS2, NPHP1 Specificity 20 % Genes 100 %
GLIS2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). GLIS2 Specificity 100 % Genes 100 %
Nephronophthisis 7 (sequence analysis of GLIS2 gene). By CGC Genetics (Portugal). GLIS2 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 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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