Agammaglobulinemia 5, Autosomal Dominant; Agm5

Clinical Features

Phenotypes and symptoms related to Agammaglobulinemia 5, Autosomal Dominant; Agm5

  • Hypertelorism
  • Low-set ears
  • High palate
  • Epicanthus
  • Agammaglobulinemia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Agammaglobulinemia 5, Autosomal Dominant; Agm5 Is also known as agammaglobulinemia, autosomal dominant, due to lrrc8a defect.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Agammaglobulinemia 5, Autosomal Dominant; Agm5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Agammaglobulinemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SH2D1A, BTK, BLNK, CD79A, CD79B, LRRC8A, IGHM, PIK3R1
Specificity
13 %
Genes
100 %
Agammaglobulinemia type 5, autosomal recessive.

By Centogene AG - the Rare Disease Company (Germany).

LRRC8A
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Agammaglobulinemia panel.

By Centogene AG - the Rare Disease Company (Germany).

SH2D1A, BTK, BLNK, CD79A, CD79B, LRRC8A, IGHM, IGLL1, PIK3R1
Specificity
12 %
Genes
100 %
Antibody deficiencies Panel.

By CeGaT GmbH (Germany).

BTK, TCF3, TCF4, CD40, TNFSF12, CD40LG, UNG, AICDA, BLNK, RTEL1, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, LRRC8A, CR2, DKC1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
LRRC8A.

By Fulgent Genetics Fulgent Genetics (United States).

LRRC8A
Specificity
100 %
Genes
100 %

You can get up to 3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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