Agammaglobulinemia 1, Autosomal Recessive; Agm1

Description

Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; {300755}), also known as Bruton disease, which is caused by mutation in the BTK gene (OMIM ). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) gave a comprehensive review of autosomal recessive agammaglobulinemia. Genetic Heterogeneity of Autosomal AgammaglobulinemiaAutosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 (OMIM ), caused by mutation in the IGLL1 gene (OMIM ); AGM3 (OMIM ), caused by mutation in the CD79A gene (OMIM ); AGM4 (OMIM ), caused by mutation in the BLNK gene (OMIM ); AGM5 (OMIM ), caused by disruption of the LRRC8 gene (OMIM ); AGM6 (OMIM ), caused by mutation in the CD79B gene (OMIM ); AGM7 (OMIM ), caused by mutation in the PIK3R1 gene (OMIM ); and AGM8 (OMIM ), caused by mutation in the TCF3 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Agammaglobulinemia 1, Autosomal Recessive; Agm1

  • Pica
  • Hypertelorism
  • Failure to thrive
  • Epicanthus
  • High palate
  • Fever
  • Diarrhea
  • Fatigue
  • Pneumonia
  • Recurrent respiratory infections
And another 30 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Agammaglobulinemia 1, Autosomal Recessive; Agm1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
20 %
Genes
88 %
Agammaglobulinemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BTK, SH2D1A, PIK3R1, LRRC8A, BLNK, CD79A, CD79B, IGHM
Specificity
75 %
Genes
75 %
B cell pathology panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

UNG, BTK, TNFRSF13B, AICDA, CD40, CD40LG, CD19, CD81, ICOS, TNFRSF13C, BLNK, CD79A, IGLL1, CD79B
Specificity
29 %
Genes
50 %
Agammaglobulinemia type 4, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

BLNK
Specificity
100 %
Genes
13 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
63 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
63 %
Agammaglobulinemia panel.

By Centogene AG - the Rare Disease Company in Germany.

BTK, SH2D1A, PIK3R1, LRRC8A, BLNK, CD79A, IGLL1, CD79B, IGHM
Specificity
78 %
Genes
88 %
Antibody deficiencies Panel.

By CeGaT GmbH in Germany.

UNG, RTEL1, BTK, TCF4, DKC1, TNFRSF13B, AICDA, CD40, CD40LG, LRBA, NFKB2, PIK3R1, CD19, CR2, CD81, ICOS, TNFRSF13C, MS4A1, LRRC8A, BLNK , (...)

View the complete list with 8 more genes
Specificity
29 %
Genes
100 %
Invitae Agammaglobulinemia Panel.

By Invitae in United States.

BTK, PIK3R1, BLNK, CD79A, IGLL1, CD79B
Specificity
84 %
Genes
63 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
3 %
Genes
63 %
BLNK.

By Fulgent Genetics Fulgent Genetics in United States.

BLNK
Specificity
100 %
Genes
13 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
3 %
Genes
75 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

STAT1, TGFB1, STAT3, IKBKG, GATA2, DCLRE1C, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, RAG1, AKT1, CXCR4, PIK3CD, NFKBIA, CTLA4, IL17F , (...)

View the complete list with 21 more genes
Specificity
18 %
Genes
88 %
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

BTK, SH2D1A, PIK3R1, LRRC8A, BLNK, CD79A, IGLL1, CD79B, IGHM
Specificity
78 %
Genes
88 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
63 %
Agammaglobulinemia type 5, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

LRRC8A
Specificity
100 %
Genes
13 %
LRRC8A.

By Fulgent Genetics Fulgent Genetics in United States.

LRRC8A
Specificity
100 %
Genes
13 %
Agammaglobulinemia type 2, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

IGLL1
Specificity
100 %
Genes
13 %
IGLL1.

By Fulgent Genetics Fulgent Genetics in United States.

IGLL1
Specificity
100 %
Genes
13 %
RT-PCR t(1;19)(E2A/PBX1).

By CGC Genetics in Portugal.

TCF3, PBX1
Specificity
50 %
Genes
13 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

RUNX1, TP53, RB1, ATM, CDKN2A, FGFR1, KMT2A, IGH, JAK2, ABL1, PDGFRA, ETV6, BCR, RUNX1T1, PDGFRB, BCL2, PML, CBFB, RARA, TCF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
13 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
13 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Agammaglobulinemia type 6, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

CD79B
Specificity
100 %
Genes
13 %
CD79B.

By Fulgent Genetics Fulgent Genetics in United States.

CD79B
Specificity
100 %
Genes
13 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, ATM, CDKN2A, BTK, GRIN2A, KMT2D, FAT4, NOTCH1, EZH2, ABCC9, SMARCA4, TET2, MYD88, PIK3CD, SI, POT1, NSD2, KDR, PLCG2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
13 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
25 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
25 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
38 %
Agammaglobulinemia type 3, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

CD79A
Specificity
100 %
Genes
13 %
CD79A.

By Fulgent Genetics Fulgent Genetics in United States.

CD79A
Specificity
100 %
Genes
13 %
PIK3R1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PIK3R1
Specificity
100 %
Genes
13 %
PIK3R1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PIK3R1
Specificity
100 %
Genes
13 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, LMNA, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1
Specificity
8 %
Genes
13 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2
Specificity
6 %
Genes
13 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2
Specificity
6 %
Genes
13 %
Partial Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, LMNA, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1
Specificity
8 %
Genes
13 %
PIK3R1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PIK3R1
Specificity
100 %
Genes
13 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
SHORT syndrome (sequence analysis of PIK3R1 gene).

By CGC Genetics in Portugal.

PIK3R1
Specificity
100 %
Genes
13 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, AKT2, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, AGPAT2, PCYT1A
Specificity
6 %
Genes
13 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, AKT2, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, AGPAT2, PCYT1A
Specificity
6 %
Genes
13 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
13 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
13 %
Immunodeficiency type 36.

By Centogene AG - the Rare Disease Company in Germany.

PIK3R1
Specificity
100 %
Genes
13 %
SHORT syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PIK3R1
Specificity
100 %
Genes
13 %
Agammaglobulinemia type 7, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

PIK3R1
Specificity
100 %
Genes
13 %
Invitae Common Variable Immunodeficiency Panel.

By Invitae in United States.

STAT3, TNFRSF13B, RAC2, PIK3CD, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, TNFRSF13C, PRKCD, PLCG2, IL21, IL21R, TNFSF12
Specificity
6 %
Genes
13 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
13 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
13 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRKCG, RAF1, IL2RG, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, MET, NF1, SHOX, ANKRD11, SPRED1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
13 %
PIK3R1.

By Fulgent Genetics Fulgent Genetics in United States.

PIK3R1
Specificity
100 %
Genes
13 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
13 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
13 %
CNS Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
13 %
Breast Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, PTEN, RUNX1, TP53, RB1, RET, IDH2, BRAF, HRAS, KRAS, MAP2K1, FGFR2, MAP2K2, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
13 %
Genitourinary Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, MLH1, PTEN, TP53, PPARG, FGFR3, AR, BRAF, CREBBP, HRAS, NRAS, FGFR2, TSC2, TSC1, ATM, PTCH1, CDKN2A, MET , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
13 %
Gynecologic Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, RB1, BCOR, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ATM, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
13 %
Head & Neck Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, APC, PTEN, TP53, RB1, HRAS, KRAS, NRAS, NSD1, ATM, CDKN2A, SMAD4, NF1, KMT2D, MTOR, NOTCH1, TGFBR2, KDM6A, EP300 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
13 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
13 %
SHORT SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PIK3R1
Specificity
100 %
Genes
13 %
SHORT Syndrome , Sequencing PIK3R1 Gene.

By Reference Laboratory Genetics in Spain.

PIK3R1
Specificity
100 %
Genes
13 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
13 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, PTEN, TP53, RB1, RET, SEPT9, FGFR2, ATM, CDH1, CDKN2A, FGFR1, GATA3, NEK2, ERBB3, EP300, BAP1, PIK3CA, EGFR, AKT1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
13 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, MSH2, MSH6, MLH1, TP53, CASP8, BRAF, DMD, KRAS, NRAS, ATM, SMAD4, CTNNB1, TGFBR2, SLC9A9, EP300, SMAD2, PIK3CA, FBXW7, AKT1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
13 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, MSH2, MLH1, PTEN, TP53, RB1, CUBN, BRAF, KRAS, NRAS, CDKN2A, NF1, CTNNB1, ARID1A, KIT, PIK3CA, EGFR, PDGFRA, CBLC , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
13 %
SHORT Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PIK3R1
Specificity
100 %
Genes
13 %
Agammaglobulinemia type 1, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

IGHM
Specificity
100 %
Genes
13 %
Agammaglobulinemia, non-Bruton type.

By Department of Clinical Immunology Odense University Hospital in Denmark.

IGHM
Specificity
100 %
Genes
13 %

Alternate names

Agammaglobulinemia 1, Autosomal Recessive; Agm1 Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect;agammaglobulinemia, non-bruton type.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOSCLEROSIS, AUTOSOMAL RECESSIVE HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD IMMUNODEFICIENCY 31C; IMD31C

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