FANCM gene related symptoms and diseases

All the information presented here about the FANCM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FANCM gene

Symptoms // Phenotype % Cases
Azoospermia Common - Between 50% and 80% cases
Elevated circulating follicle stimulating hormone level Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Abnormality of the ulna Rare - less than 30% cases
Abnormality of blood and blood-forming tissues Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with FANCM gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Absent radius
  • Aplasia/Hypoplasia of the radius
  • Irregular hyperpigmentation
  • External ear malformation
  • Hearing abnormality
  • Chromosome breakage
  • Abnormal eyelid morphology
  • Intellectual disability

And 170 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FANCM gene

Here you will find a list of rare diseases related to the FANCM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FANCONI ANEMIA


Alternate names

FANCONI ANEMIA Is also known as fanconi pancytopenia, fanconi anemia, fa

Description

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

Most common symptoms of FANCONI ANEMIA

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about FANCONI ANEMIA

SOURCES: OMIM ORPHANET

SPERMATOGENIC FAILURE 28; SPGF28


Description

Spermatogenic failure-28 is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018).For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Most common symptoms of SPERMATOGENIC FAILURE 28; SPGF28

  • Cryptorchidism
  • Infertility
  • Azoospermia
  • Tubular atrophy
  • Elevated circulating follicle stimulating hormone level


More info about SPERMATOGENIC FAILURE 28; SPGF28

SOURCES: OMIM

PREMATURE OVARIAN FAILURE 15; POF15


Description

Premature ovarian failure-15 is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones (Fouquet et al., 2017).For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).

Most common symptoms of PREMATURE OVARIAN FAILURE 15; POF15

  • Premature ovarian insufficiency
  • Menorrhagia
  • Oligomenorrhea
  • Pituitary adenoma
  • Elevated circulating follicle stimulating hormone level


More info about PREMATURE OVARIAN FAILURE 15; POF15

SOURCES: OMIM

MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION


Description

Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.

Most common symptoms of MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION

  • Decreased testicular size
  • Azoospermia
  • Increased circulating gonadotropin level
  • Abnormal spermatogenesis
  • Obstructive azoospermia


More info about MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION

SOURCES: ORPHANET


Potential gene panels for FANCM gene

Fanconi Anemia Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Fanconi Anemia Panel that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 FANCA FANCB FANCC

More info about this panel

Bone Marrow Failure Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7

More info about this panel

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24

More info about this panel

Fanconi Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Fanconi Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA FANCB

More info about this panel

FANCM Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FANCM gene.

More info about this panel

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Fanconi Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Fanconi Anemia Deletion/Duplication Panel that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA FANCB

More info about this panel

FANCM Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FANCM gene.

More info about this panel

Inherited Bone Marrow Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Fanconi Anemia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Fanconi Anemia Sequencing Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2 ERCC4

More info about this panel

Fanconi anemia (NGS panel for 15 genes) Panel

Portugal.

By CGC Genetics Fanconi anemia (NGS panel for 15 genes) that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 FANCA FANCB FANCC

More info about this panel

Fanconi anemia type M (sequence analysis of FANCM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FANCM gene.

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Fanconi Anemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Fanconi Anemia Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel

Fanconi Anemia via FANCM Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FANCM gene.

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Breast Cancer Panel

Germany.

By MGZ Medical Genetics Center Breast Cancer that also includes the following genes: BLM SDHB SDHC SDHD BRCA1 BRCA2 STK11 BUB1B TP53 CDH1

More info about this panel

Fanconi Anemia Sequential Panel Panel

United States.

By FirmaLab Fanconi Anemia Sequential Panel that also includes the following genes: BRIP1 FANCL FANCM SLX4 PALB2 FANCA FANCC FANCE FANCF FANCG

More info about this panel

Fanconi anemia type M Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FANCM gene.

More info about this panel

Fanconi anemia Panel Panel

Germany.

By CeGaT GmbH Fanconi anemia Panel that also includes the following genes: BRCA1 BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 FANCA FANCB

More info about this panel

Bone marrow failure syndromes Panel Panel

Germany.

By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Fanconi Anemia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Fanconi Anemia that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA

More info about this panel

NGS Panel for Fanconi anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Fanconi anemia that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI

More info about this panel

Invitae Bone Marrow Failure Syndromes Panel Panel

United States.

By Invitae Invitae Bone Marrow Failure Syndromes Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1

More info about this panel

Invitae Fanconi Anemia Panel Panel

United States.

By Invitae Invitae Fanconi Anemia Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA

More info about this panel

Fanconi anemia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Fanconi anemia that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 FANCA FANCB

More info about this panel

FANCL - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center FANCL - Gene sequencing that also includes the following genes: FANCL FANCM

More info about this panel

Fanconi Anemia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Fanconi Anemia NGS Panel that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA FANCB

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

FANCM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FANCM gene.

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Fanconi Anemia Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Fanconi Anemia Comprehensive Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA

More info about this panel

Fanconi Anemia Panel Panel

Finland.

By Blueprint Genetics Fanconi Anemia Panel that also includes the following genes: BLM BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI CXCR4 PALB2

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Hereditary Breast and Gynecological Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Breast and Gynecological Cancer Panel that also includes the following genes: BLM BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Limb Malformations Panel Panel

Finland.

By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL

More info about this panel

Inherited Bone Marrow Failure Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel

FANCONI ANEMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FANCONI ANEMIA: NGS PANEL that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2 ERCC4

More info about this panel

BREAST AND OVARIAN CANCER NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B

More info about this panel

Phosphorus Leukemia including Fanconi Anemia Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Leukemia including Fanconi Anemia Genes Panel that also includes the following genes: RUNX1 BLM BRCA2 EPCAM TERC TERT TINF2 TP53 XRCC2 CEBPA

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

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Fanconi Anemia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Fanconi Anemia: gene sequencing panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI PALB2

More info about this panel

Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel that also includes the following genes: BRCA2 SOX2 XRCC2 BRIP1 CHD7 FANCL FANCM SLX4 UBE2T RFWD3

More info about this panel


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