Amelogenesis Imperfecta, Hypomaturation Type, Iia3; Ai2a3

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 Amelogenesis Imperfecta, Hypomaturation Type, Iia3; Ai2a3

WDR72

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Hypomaturation Type, Iia3; Ai2a3

Open bite
Amelogenesis imperfecta
Anterior open bite
Hypomature dental enamel

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.

Amelogenesis Imperfecta, Hypomaturation Type, Iia3; Ai2a3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amelogenesis Imperfecta via WDR72 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). WDR72 Specificity 100 % Genes 100 %
Amelogenesis Imperfecta Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CNNM4, SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, ROGDI, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20 Specificity 6 % Genes 100 %
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel. By Connective Tissue Gene Tests (United States). SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20 Specificity 7 % Genes 100 %
Amelogenesis imperfecta and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20 Specificity 7 % Genes 100 %
Amelogenesis imperfecta and related disorders NGS panel. By Connective Tissue Gene Tests (United States). SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20 Specificity 7 % Genes 100 %
Amelogenesis imperfecta panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). FAM20A, FAM83H, ODAPH, WDR72, DLX3, ENAM, AMELX, KLK4 Specificity 13 % Genes 100 %
Amelogenesis imperfecta type 2A3. By Centogene AG - the Rare Disease Company (Germany). WDR72 Specificity 100 % Genes 100 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL (Spain). RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2 , (...) View the complete list with 114 more genes Panel complete gene list RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2, TGIF1, MED12, TWIST1, UBB, SUMO1, KDM6A, VAX1, ZIC2, IFT122, WNT10A, NSD1, RAB23, EDARADD, ZEB2, ALX1, SALL4, TP63, CDON, CDC45, KAT6B, PORCN, CDSN, WDR19, EIF4A3, NAA10, ADAMTSL4, DISP1, POLR1C, SMOC2, POLR1D, CHD7, BCOR, ANKRD11, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, SMC3, FAM83H, CTSK, OFD1, GRHL3, ODAPH, WDR72, DHODH, NIPBL, EDAR, SPECC1L, KDM1A, DLX3, DLX4, WDR35, IFT43, DSPP, EFTUD2, EDA, EFNB1, MEGF8, ENAM, ERF, EYA1, EZH2, FGD1, FGF10, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FOXC1, FOXE1, GDF3, GDF6, GJA1, GJB6, GLI2, GLI3, GNAI3, ALX3, ALX4, AMELX, HOXA2, IKBKG, IL11RA, IRF6, KLK4, LRP2, LRP6, LTBP3, MASP1, MEOX1, MID1, MITF, KMT2D, MMP20, MSX1, MSX2, NFKBIA, NOG, OTX2, PAX3, PAX6, PAX7, PAX9, PITX2, AXIN2, PLCB4, PTCH1, PTH1R, NECTIN1, RAD21, RECQL4 Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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