Uvula, Bifid

Description

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

Genes related to Uvula, Bifid

GRHL3
UBB

Clinical Features

Phenotypes and symptoms related to Uvula, Bifid

Cleft lip
Bifid uvula
Submucous cleft soft palate
Nasal, dysarthic speech

Incidence and onset information

— Not enough data available about incidence and published cases.

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Uvula, Bifid Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Van der Woude syndrome 2 (sequence analysis of GRHL3 gene). By CGC Genetics in Portugal. GRHL3 Specificity 100 % Genes 50 %
Van der Woude Syndrome (VWS) via GRHL3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GRHL3 Specificity 100 % Genes 50 %
Cleft lip, cleft palate and related disorders NGS panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22 Specificity 6 % Genes 50 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22 Specificity 6 % Genes 50 %
Cleft lip, cleft palate and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22 Specificity 6 % Genes 50 %
Van der Woude syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. IRF6, GRHL3 Specificity 50 % Genes 50 %
Van der Woude syndrome NGS panel. By Connective Tissue Gene Tests in United States. IRF6, GRHL3 Specificity 50 % Genes 50 %
Van der Woude syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. IRF6, GRHL3 Specificity 50 % Genes 50 %
Van der Woude Syndrome. By Centogene AG - the Rare Disease Company in Germany. GRHL3 Specificity 100 % Genes 50 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL in Spain. RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...) View the complete list with 116 more genes Panel GTR000552865 complete gene list RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3, SMC1A, NIPBL, NSD1, PTCH1, FGFR1, FGF8, SIX3, KMT2D, ANKRD11, OFD1, FGD1, ZEB2, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, DSPP, POLR1C, PAX3, SNAI2, SOX10, TCOF1, SIX1, FGF3, SEMA3E, TFAP2A, POLR1D, MID1, MED12, KAT6B, WDR35, PTH1R, NAA10, RAB23, MSX2, TWIST1, TGIF1, ZIC2, CDON, GLI2, TGFBR1, TGFBR2, SKI, EZH2, GLI3, MITF, TP63, KDM6A, GDF6, WDR19, FGF10, ALX4, SALL4, EFNB1, EFTUD2, GNAI3, SH3BP2, GJA1, SATB2, MASP1, IFT43, DISP1, IL11RA, IFT122, VAX1, ALX1, BMP4, GDF3, AXIN2, NFKBIA, CDSN, EDA, IRF6, SPECC1L, LRP2, CDC45, MEGF8, ERF, TCF12, ALX3, FOXE1, SF3B4, EDAR, WNT10A, ADAMTSL4, EDARADD, AMELX, MEOX1, EDN1, PLCB4, DLX3, GRHL3, FAM83H, MSX1, PAX9, LRP6, LTBP3, ENAM, NECTIN1, KLK4, MMP20, ODAPH, NOG, WDR72, SMOC2, KDM1A, SUMO1, TBX22, DLX4, EIF4A3, TSHZ1, HOXA2, PAX7, UBB Specificity 2 % Genes 100 %
Invitae van der Woude Syndrome Panel. By Invitae in United States. IRF6, GRHL3 Specificity 50 % Genes 50 %
GRHL3. By Fulgent Genetics Fulgent Genetics in United States. GRHL3 Specificity 100 % Genes 50 %
Cleft Lip/Palate and Associated Syndromes Panel. By Blueprint Genetics in Finland. COL2A1, KMT2D, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, KDM6A, SATB2, IRF6, FOXE1, GRHL3, MSX1, TGDS, TBX22 Specificity 7 % Genes 50 %
UBB. By Fulgent Genetics Fulgent Genetics in United States. UBB Specificity 100 % Genes 50 %

Alternate names

Uvula, Bifid Is also known as uvula, cleft;bifidity of the uvula; uvular cleft.

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