FOXL2 gene related symptoms and diseases
All the information presented here about the FOXL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FOXL2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Amenorrhea | Uncommon - Between 30% and 50% cases |
| Premature ovarian insufficiency | Uncommon - Between 30% and 50% cases |
| Hypoplasia of the uterus | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Rare - less than 30% cases |
| Congenital diaphragmatic hernia | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with FOXL2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Primary amenorrhea
- Abnormality of the hair
- Narrow palpebral fissure
- Holoprosencephaly
- Cupped ear
- Short finger
- Increased circulating gonadotropin level
- Congenital ptosis
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FOXL2 gene
Here you will find a list of rare diseases related to the FOXL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
Most common symptoms of BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
- Intellectual disability
- Global developmental delay
- Microcephaly
- Nystagmus
- Strabismus
More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
PREMATURE OVARIAN FAILURE 3; POF3
Most common symptoms of PREMATURE OVARIAN FAILURE 3; POF3
- Amenorrhea
- Premature ovarian insufficiency
- Hypoplasia of the uterus
- Secondary amenorrhea
More info about PREMATURE OVARIAN FAILURE 3; POF3
BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO 3Q23 REARRANGEMENT SYNDROME
BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO A POINT MUTATION SYNDROME
Alternate names
BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO A POINT MUTATION SYNDROME Is also known as blepharophimosis types 1 and 2 due to a point mutation
More info about BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO A POINT MUTATION SYNDROME
SOURCES: ORPHANET
BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO COPY NUMBER VARIATIONS
Alternate names
BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO COPY NUMBER VARIATIONS Is also known as blepharophimosis types 1 and 2 due to copy number variations, blepharophimosis-epicanthus inversus-ptosis due to a cnv
More info about BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO COPY NUMBER VARIATIONS
SOURCES: ORPHANET
MALIGANT GRANULOSA CELL TUMOR OF THE OVARY
Alternate names
MALIGANT GRANULOSA CELL TUMOR OF THE OVARY Is also known as granulosa cell malignant tumor, granulosa cell cancer
Description
Malignant granulosa cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis, necessitating prolonged follow-up.
More info about MALIGANT GRANULOSA CELL TUMOR OF THE OVARY
SOURCES: ORPHANET
Search interest in FOXL2
Potential gene panels for FOXL2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Premature Ovarian Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Premature Ovarian Failure Sequencing Panel that also includes the following genes: BMP15 FOXL2 MCM8 PSMC3IP HFM1 NOBOX FIGLA FSHR LMNA NR5A1
More info about this panel United States.
Premature Ovarian Failure Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Premature Ovarian Failure Deletion/Duplication Panel that also includes the following genes: BMP15 FOXL2 MCM8 PSMC3IP HFM1 NOBOX FIGLA FSHR LMNA NR5A1
More info about this panel United States.
FOXL2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FOXL2 gene.
More info about this panel Spain.
FOXL2. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FOXL2 gene.
More info about this panel Spain.
Blephrophemosis-Ptosis-Epicanthosis syndrome - FOXL2 Sequence and Del/Dup Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FOXL2 gene.
More info about this panel United States.
Blephrophemosis-Ptosis-Epicanthosis syndrome - FOXL2 Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FOXL2 gene.
More info about this panel United States.
Blephrophemosis-Ptosis-Epicanthosis syndrome - FOXL2 Deletion/Duplication Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FOXL2 gene.
More info about this panel United States.
Blephrophemosis-Ptosis-Epicanthosis syndrome - FOXL2 Known Point Mutation Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FOXL2 gene.
More info about this panel United States.
Blepharophimosis, epicanthus inversus and ptosis, types 1 and 2 (BPES 1 and 2, deletion/duplication analysis of FOXL2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FOXL2 gene.
More info about this panel Portugal.
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 and 2 (BPES 1 and 2, sequence analysis of FOXL2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FOXL2 gene.
More info about this panel Portugal.
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via FOXL2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FOXL2 gene.
More info about this panel United States.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA
More info about this panel United States.
Custom solid tumor gene sequencing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A
More info about this panel United States.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel Germany.
Blepharophimosis, epicanthus inversus, and ptosis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FOXL2 gene.
More info about this panel Germany.
Blepharophimosis, Ptosis, and Epicanthus Inversus Panel
Turkey.
By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS
This panel specifically test the FOXL2 gene.
More info about this panel Turkey.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Blepharophimosis, epicanthus inversus, and ptosis: FOXL2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FOXL2 gene.
More info about this panel Spain.
Blepharophimosis, epicanthus inversus, and ptosis: FOXL2 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FOXL2 gene.
More info about this panel Spain.
FOXL2 - Gene Sequencing & Del/Dup analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the FOXL2 gene.
More info about this panel Netherlands.
FOXL2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FOXL2 gene.
More info about this panel United States.
Premature Ovarian Failure Panel Panel
Finland.
By Blueprint Genetics Premature Ovarian Failure Panel that also includes the following genes: BMP15 FOXL2 STAR WT1 NOBOX CYP17A1 CYP19A1 FSHR GALT GNAS
More info about this panel Finland.
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
Finland.
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
More info about this panel Finland.
Blepharophimosis - epicanthus inversus - ptosis Panel
Spain.
By Bioarray
This panel specifically test the FOXL2 gene.
More info about this panel Spain.
Solid Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panel United States.
Gynecologic Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1
More info about this panel United States.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
PRIMARY OVARIAN FAILURE Panel
Spain.
By Laboratorio de Genetica Clinica SL PRIMARY OVARIAN FAILURE that also includes the following genes: BMP15 FOXL2 DIAPH2 FSHR
More info about this panel Spain.
BPES SYNDROME (BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FOXL2 gene.
More info about this panel Spain.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Blepharophimosis-Ptosis-Epicanthus Inversus, Sequencing FOXL2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FOXL2 gene.
More info about this panel Spain.
Blepharophimosis-Ptosis-Epicanthus Inversus , Deletions-Duplications (MLPA) FOXL2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FOXL2 gene.
More info about this panel Spain.
Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP15 FOXL2 STAR WNT4 POF1B PSMC3IP NOBOX FIGLA CYP17A1 CYP19A1
More info about this panel Spain.
Phosphorus Female Infertility Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis that also includes the following genes: BMP15 FOXL2 POF1B PSMC3IP HFM1 NOBOX FIGLA CYP17A1 CYP19A1 DIAPH2
More info about this panel Canada.
Blepharophimosis, Ptosis, and Epicanthus Inversus: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FOXL2 gene.
More info about this panel Canada.
Blepharophimosis, Ptosis, and Epicanthus Inversus: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FOXL2 gene.
More info about this panel Canada.
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