Immunodeficiency 46; Imd46

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 46; Imd46

  • Failure to thrive
  • Anemia
  • Diarrhea
  • Thrombocytopenia
  • Immunodeficiency
  • Recurrent infections
  • Pruritus
  • Neutropenia
  • Sepsis
  • Decreased antibody level in blood
And another 7 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.


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Immunodeficiency 46; Imd46 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TFRC.

By Fulgent Genetics Fulgent Genetics in United States.

TFRC
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
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
100 %

Alternate names

Immunodeficiency 46; Imd46 Is also known as ;cid due to tfrc deficiency; tfrc-related combined immunodeficiency.



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