Hypomagnesemia 4, Renal; Homg4

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 Hypomagnesemia 4, Renal; Homg4

Clinical Features

Phenotypes and symptoms related to Hypomagnesemia 4, Renal; Homg4

Seizures
Global developmental delay
Intellectual disability, moderate
Hypomagnesemia

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.

Alternative names

Hypomagnesemia 4, Renal; Homg4 Is also known as hypomagnesemia, renal, normocalciuric.

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.

Hypomagnesemia 4, Renal; Homg4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypomagnesemia type 4 (sequence analysis of EGF gene). By CGC Genetics (Portugal). EGF Specificity 100 % Genes 100 %
Hypomagnesemia (NGS panel for 17 genes). By CGC Genetics (Portugal). CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1 Specificity 6 % Genes 100 %
Hypomagnesemia (NGS panel for 17 genes). By CGC Genetics (Portugal). CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1 Specificity 6 % Genes 100 %
Hypomagnesemia 4, renal. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). EGF Specificity 100 % Genes 100 %
Hypomagnesemia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1 Specificity 7 % 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 Panel complete gene list BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET Specificity 1 % Genes 100 %
Single gene testing EGF. By CeGaT GmbH (Germany). EGF Specificity 100 % Genes 100 %
EGF. By Fulgent Genetics Fulgent Genetics (United States). EGF Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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