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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH

BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO 3Q23 REARRANGEMENT SYNDROME



More info about BLEPHAROPHIMOSIS-EPICANTHUS INVERSUS-PTOSIS DUE TO 3Q23 REARRANGEMENT SYNDROME

SOURCES: ORPHANET

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

FOXL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FOXL2 gene.

More info about this panel

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

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

Blepharophimosis - epicanthus inversus - ptosis Panel

Spain.

By Bioarray

This panel specifically test the FOXL2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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


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