MAGT1 gene related symptoms and diseases

All the information presented here about the MAGT1 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 MAGT1 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Immunodeficiency Very Common - Between 80% and 100% cases
Recurrent infections Very Common - Between 80% and 100% cases
Lymphoma Very Common - Between 80% and 100% cases
Lymphopenia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MAGT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Recurrent viral infections
  • Decreased proportion of CD4-positive T cells
  • Decreased T cell activation
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Rare diseases associated to MAGT1 gene

Here you will find a list of rare diseases related to the MAGT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED IMMUNODEFICIENCY WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION AND NEOPLASIA


Alternate names

X-LINKED IMMUNODEFICIENCY WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION AND NEOPLASIA Is also known as combined immunodeficiency due to magt1 deficiency, cid due to magt1 deficiency, xmen

Description

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.

Most common symptoms of X-LINKED IMMUNODEFICIENCY WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION AND NEOPLASIA

  • Neoplasm
  • Immunodeficiency
  • Recurrent infections
  • Lymphoma
  • Lymphopenia


More info about X-LINKED IMMUNODEFICIENCY WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION AND NEOPLASIA

SOURCES: ORPHANET OMIM


Potential gene panels for MAGT1 gene

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

MAGT1 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 MAGT1 gene.

More info about this panel

Autoimmune Lymphoproliferative Syndrome 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 Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS) that also includes the following genes: FAS FASLG CASP10 CASP8 MAGT1 FADD ITK KRAS NRAS

More info about this panel

Hemophagocytic Lymphohistiocytosis 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 Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 GATA2 AP3B1

More info about this panel

Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel that also includes the following genes: FAS FASLG CASP10 CASP8 MAGT1 FADD ITK KRAS NRAS

More info about this panel

Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP

More info about this panel

MAGT1 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 MAGT1 gene.

More info about this panel

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

X-linked Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1

More info about this panel

Mental retardation, X-linked type 95 (sequence analysis of MAGT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MAGT1 gene.

More info about this panel

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (sequence analysis of MAGT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MAGT1 gene.

More info about this panel

Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3

More info about this panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4

More info about this panel

Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 LRBA CTLA4 MAGT1 FADD

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

X-Linked Mental Retardation Panel

Germany.

By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

MAGT1 gene Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the MAGT1 gene.

More info about this panel

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MAGT1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Mental retardation, X-linked type 95 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MAGT1 gene.

More info about this panel

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

More info about this panel

Invitae Congenital Disorders of Glycosylation Panel Panel

United States.

By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2

More info about this panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel

United States.

By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D

More info about this panel

Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Panel

United States.

By Invitae Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel that also includes the following genes: FAS FASLG CASP8 CTLA4 MAGT1 ITK PIK3CD PRKCD

More info about this panel

Invitae Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3G CD8A LRBA

More info about this panel

XLMR 95: MAGT1 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MAGT1 gene.

More info about this panel

XLMR 95: MAGT1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MAGT1 gene.

More info about this panel

Hemophagocytic Lymphohistiocytosis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hemophagocytic Lymphohistiocytosis: Sequencing Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 NLRC4 LYST UNC13D MAGT1 GATA2

More info about this panel

Congenital Disorders of Glycosylation NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Congenital Disorders of Glycosylation NGS Panel that also includes the following genes: RPN2 SEC23B SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

MAGT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAGT1 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

Hypomagnesemia Panel Panel

Finland.

By Blueprint Genetics Hypomagnesemia Panel that also includes the following genes: CNNM2 CNNM4 SLC12A3 HNF1B CASR BSND NIPA2 SARS2 TRPM6 CLCNKB

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

Hemophagocytic Lymphohistiocytosis Panel Panel

Finland.

By Blueprint Genetics Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG LYST UNC13D MAGT1 FADD XIAP

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

Congenital Disorders of Glycosylation Panel Panel

Finland.

By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD XIAP

More info about this panel

Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP

More info about this panel

Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD ITK KRAS NRAS

More info about this panel


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