NHEJ1 gene related symptoms and diseases

All the information presented here about the NHEJ1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NHEJ1 gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Convex nasal ridge Very Common - Between 80% and 100% cases
B lymphocytopenia Very Common - Between 80% and 100% cases
Decrease in T cell count Very Common - Between 80% and 100% cases
Recurrent viral infections Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NHEJ1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Recurrent bacterial infections
  • Lymphopenia
  • Sloping forehead
  • Decreased antibody level in blood
  • Growth delay
  • Bulbous nose
  • Autoimmunity
  • Thrombocytopenia

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NHEJ1 gene

Here you will find a list of rare diseases related to the NHEJ1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CERNUNNOS-XLF DEFICIENCY


Alternate names

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, cernunnos xlfd, nhej1 deficiency, scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Description

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

Most common symptoms of CERNUNNOS-XLF DEFICIENCY

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


More info about CERNUNNOS-XLF DEFICIENCY

SOURCES: OMIM MESH ORPHANET


Potential gene panels for NHEJ1 gene

Chromosome Breakage Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Chromosome Breakage Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: BLM NHEJ1 LIG4 NBN ATM

More info about this panel

Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA

More info about this panel

NHEJ1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the NHEJ1 gene.

More info about this panel

Chromosome Breakage Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Chromosome Breakage Disorders Deletion/Duplication Panel that also includes the following genes: BLM NHEJ1 LIG4 NBN ATM

More info about this panel

Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E ADA NHEJ1

More info about this panel

NHEJ1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the NHEJ1 gene.

More info about this panel

Microcephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT

More info about this panel

Microcephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18

More info about this panel

Severe combined immunodeficiency Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficency Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficiency Del/dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (sequence analysis of NHEJ1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NHEJ1 gene.

More info about this panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Microcephaly and Dwarfism Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Microcephaly and Dwarfism that also includes the following genes: BRAT1 NHEJ1 MRE11

More info about this panel

Severe combined immunodeficiency (SCID) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A

More info about this panel

Comprehensive SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C

More info about this panel

Microcephaly panel Panel

Germany.

By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2

More info about this panel

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NHEJ1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

B-negative SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company B-negative SCID panel that also includes the following genes: DCLRE1C ADA NHEJ1 AK2 LIG4 RAC2 RAG1 RAG2

More info about this panel

Single gene testing NHEJ1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NHEJ1 gene.

More info about this panel

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

More info about this panel

Microcephaly Panel

Estonia.

By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM

More info about this panel

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

More info about this panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: ZAP70 CD3D CD3E CD247 DCLRE1C ADA CORO1A NHEJ1 AK2 IL2RG

More info about this panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae T-B-NK+ Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae T-B-NK+ Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: DCLRE1C NHEJ1 LIG4 PRKDC RAG1 RAG2

More info about this panel

Invitae Radiation-Sensitive Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae Radiation-Sensitive Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: DCLRE1C NHEJ1 LIG4 PRKDC

More info about this panel

Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel that also includes the following genes: ZAP70 DCLRE1C ADA NHEJ1 LIG4 PNP PTPRC RAC2 RAG1 RAG2

More info about this panel

Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C ADA

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Microcephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1

More info about this panel

NHEJ1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NHEJ1 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Finland.

By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: STAT5B STIM1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA NHEJ1 ORAI1

More info about this panel


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