Immunodeficiency 8; Imd8

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 8; Imd8

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Anemia
  • Recurrent respiratory infections
  • Immunodeficiency
  • Recurrent infections
  • Hyperactivity
  • Respiratory tract infection
  • Attention deficit hyperactivity disorder
And another 10 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 8; Imd8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Immunodeficiency 8 (sequence analysis of CORO1A gene).

By CGC Genetics in Portugal.

CORO1A
Specificity
100 %
Genes
100 %
Severe combined immunodeficiency (SCID) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AK2, ADA, IL2RG, PNP, DCLRE1C, TBX1, DOCK8, JAK3, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
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
100 %
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
100 %
Immunodeficiency type 8.

By Centogene AG - the Rare Disease Company in Germany.

CORO1A
Specificity
100 %
Genes
100 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel.

By Invitae in United States.

AK2, ADA, IL2RG, PNP, DCLRE1C, JAK3, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, PTPRC, PRKDC, CORO1A, CD247
Specificity
6 %
Genes
100 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

TAP1, AK2, ADA, IL2RG, PNP, DCLRE1C, MAGT1, DOCK8, JAK3, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, ITK, RAC2, NHEJ1, LIG4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
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
1 %
Genes
100 %
Invitae T-B+NK+ Severe Combined Immunodeficiency (SCID) Panel.

By Invitae in United States.

CD3E, CD3D, IL7R, PTPRC, CORO1A, CD247
Specificity
17 %
Genes
100 %
CORO1A.

By Fulgent Genetics Fulgent Genetics in United States.

CORO1A
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 %
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

STAT1, AK2, ADA, IL2RG, RMRP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, PTPRC, ORAI1, FOXN1, PRKDC, CARD11, CORO1A , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %

Alternate names

Immunodeficiency 8; Imd8 Is also known as ;scid due to coro1a deficiency; scid due to coronin-1a deficiency; severe combined immunodeficiency due to coronin-1a deficiency.


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