Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation

Description

Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation

  • Microcephaly
  • Growth delay
  • Anemia
  • Thrombocytopenia
  • Immunodeficiency
  • Recurrent infections
  • Autoimmunity
  • Bulbous nose
  • Decreased antibody level in blood
  • Convex nasal ridge
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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Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chromosome Breakage Disorders Panel by next-generation sequencing (NGS).

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

BLM, ATM, NBN, NHEJ1, LIG4
Specificity
20 %
Genes
100 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).

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

ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
5 %
Genes
100 %
NHEJ1 Sequencing.

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

NHEJ1
Specificity
100 %
Genes
100 %
Chromosome Breakage Disorders Deletion/Duplication Panel.

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

BLM, ATM, NBN, NHEJ1, LIG4
Specificity
20 %
Genes
100 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.

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

ADA, IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
6 %
Genes
100 %
NHEJ1 Deletion/duplication analysis.

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

NHEJ1
Specificity
100 %
Genes
100 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Severe combined immunodeficiency Seq + Del/Dup Panel.

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

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
100 %
Severe combined immunodeficency Seq Analysis.

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

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
100 %
Severe combined immunodeficiency Del/dup Panel.

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

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
100 %
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (sequence analysis of NHEJ1 gene).

By CGC Genetics in Portugal.

NHEJ1
Specificity
100 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Microcephaly and Dwarfism.

By Institute of Human Genetics Cologne University in Germany.

MRE11, BRAT1, NHEJ1
Specificity
34 %
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 %
Comprehensive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

AK2, ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Microcephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation.

By Centogene AG - the Rare Disease Company in Germany.

NHEJ1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
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 %
B-negative SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

AK2, ADA, DCLRE1C, RAG2, RAG1, RAC2, NHEJ1, LIG4
Specificity
13 %
Genes
100 %
Single gene testing NHEJ1.

By CeGaT GmbH in Germany.

NHEJ1
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 %
Microcephaly.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
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.

DCLRE1C, RAG2, RAG1, NHEJ1, LIG4, PRKDC
Specificity
17 %
Genes
100 %
Invitae Radiation-Sensitive Severe Combined Immunodeficiency (SCID) Panel.

By Invitae in United States.

DCLRE1C, NHEJ1, LIG4, PRKDC
Specificity
25 %
Genes
100 %
Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ADA, PNP, DCLRE1C, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, PTPRC
Specificity
10 %
Genes
100 %
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ADA, IL2RG, PNP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Microcephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
NHEJ1.

By Fulgent Genetics Fulgent Genetics in United States.

NHEJ1
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
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 Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

AK2, ADA, IL2RG, PNP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
6 %
Genes
100 %

Alternate names

Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation Is also known as scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation, nhej1 syndrome;cernunnos xlfd; cernunnos deficiency; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome; nhej1 deficiency.



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