Bifid Nose With Or Without Anorectal And Renal Anomalies; Bnar
Genes related to Bifid Nose With Or Without Anorectal And Renal Anomalies; Bnar
- FREM1
Clinical Features
Phenotypes and symptoms related to Bifid Nose With Or Without Anorectal And Renal Anomalies; Bnar
- Hypertelorism
- Abnormality of the kidney
- Short philtrum
- Bulbous nose
- Renal agenesis
- Overlapping toe
- Anteriorly placed anus
- Rectovaginal fistula
- Bifid nose
- Rectal atresia
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.Bifid Nose With Or Without Anorectal And Renal Anomalies; Bnar Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Anophthalmia/microphthalmia.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
Craniosynostosis.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
FREM1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
FREM1
Specificity
100 %
Genes
100 % |
Trigonocephaly 2 (sequence analysis of FREM1 gene).
By CGC Genetics (Portugal).
FREM1
Specificity
100 %
Genes
100 % |
Craniosynostosis (NGS panel for 30 genes).
By CGC Genetics (Portugal).
BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF , (...)
View the complete list with 10 more genes
Specificity
4 %
Genes
100 % |
Microphthalmia (NGS panel for 26 genes).
By CGC Genetics (Portugal).
BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
MOTA syndrome (sequence analysis of FREM1 gene).
By CGC Genetics (Portugal).
FREM1
Specificity
100 %
Genes
100 % |
Fraser Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
GRIP1, FRAS1, FREM1, FREM2
Specificity
25 %
Genes
100 % |
You can get up to 31 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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