ERCC2 gene related symptoms and diseases

All the information presented here about the ERCC2 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 ERCC2 gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Cutaneous photosensitivity Very Common - Between 80% and 100% cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ERCC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Microphthalmia
  • Not very common - Between 30% and 50% cases

  • Melanoma
  • Hypogonadism
  • Photophobia
  • Telangiectasia
  • Optic atrophy
  • Dermal atrophy
  • Global developmental delay

And 157 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ERCC2 gene

Here you will find a list of rare diseases related to the ERCC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


XERODERMA PIGMENTOSUM

Alternate names

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i, xp1, xp, group a, xp

Description

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

Most common symptoms of XERODERMA PIGMENTOSUM

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about XERODERMA PIGMENTOSUM

SOURCES: OMIM ORPHANET

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

Alternate names

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD Is also known as xp8, formerly, xph, formerly, xp4 xeroderma pigmentosum viii, formerly, xpdc, xp, group d, xp, group h, formerly, xeroderma pigmentosum iv

Description

Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992).

Most common symptoms of XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

SOURCES: OMIM MESH

COFS SYNDROME

Alternate names

COFS SYNDROME Is also known as cerebrooculofacioskeletal syndrome, pena-shokeir syndrome type 2

Description

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

Most common symptoms of COFS SYNDROME

  • Seizures
  • Short stature
  • Microcephaly
  • Micrognathia
  • Sensorineural hearing impairment


More info about COFS SYNDROME

SOURCES: ORPHANET

TRICHOTHIODYSTROPHY

Description

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).


More info about TRICHOTHIODYSTROPHY

SOURCES: ORPHANET

CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Most common symptoms of CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

SOURCES: MESH OMIM

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Alternate names

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, trichothiodystrophy, photosensitive, trichothiodystrophy with congenital ichthyosis, ichthyosis, congenital, with trichothiodystrophy, pibids syndrome, tay syndrome

Description

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

Most common symptoms of TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

SOURCES: ORPHANET OMIM

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Alternate names

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Description

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

Most common symptoms of XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

SOURCES: ORPHANET


Potential gene panels for ERCC2 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel
United States.

ERCC2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ERCC2 gene.

More info about this panel
Germany.

ERCC2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ERCC2 gene.

More info about this panel
Spain.

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel
United States.

Trichothiodystrophy (sequence analysis of ERCC2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ERCC2 gene.

More info about this panel
Portugal.

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel
Portugal.

Trichothiodystrophy (NGS panel of 5 genes) Panel

Portugal.

By CGC Genetics Trichothiodystrophy (NGS panel of 5 genes) that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3

More info about this panel
Portugal.

Xeroderma Pigmentosum Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Xeroderma Pigmentosum Sequencing Panel with CNV Detection that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
United States.

Xeroderma Pigmentosum via ERCC2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ERCC2 gene.

More info about this panel
United States.

Xeroderma pigmentosum Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Xeroderma pigmentosum Comprehensive panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
United States.

Xeroderma pigmentosum NGS panel Panel

United States.

By Connective Tissue Gene Tests Xeroderma pigmentosum NGS panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
United States.

Xeroderma pigmentosum Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Xeroderma pigmentosum Deletion / Duplication panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
United States.

Cerebrooculofacioskeletal syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome Comprehensive panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6

More info about this panel
United States.

Progeroid syndromes and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

Progeroid syndromes and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

Trichothiodystrophy NGS panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy NGS panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel
United States.

Trichothiodystrophy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy Comprehensive panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel
United States.

Cerebrooculofacioskeletal syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome NGS panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6

More info about this panel
United States.

Progeroid syndromes and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

Trichothiodystrophy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy Deletion / Duplication panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel
United States.

Cerebrooculofacioskeletal syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome Deletion / Duplication panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6

More info about this panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Custom solid tumor gene sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A

More info about this panel
United States.

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel
Germany.

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel
Germany.

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel
Germany.

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1

More info about this panel
Germany.

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
Germany.

Xeroderma pigmentosum, group D Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ERCC2 gene.

More info about this panel
Germany.

Trichothiodystrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ERCC2 gene.

More info about this panel
Germany.

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

More info about this panel
Germany.

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel
Germany.

Xeroderma pigmentosum Panel Panel

Germany.

By CeGaT GmbH Xeroderma pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
Germany.

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel
Germany.

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel
Germany.

Single gene testing ERCC2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ERCC2 gene.

More info about this panel
Germany.

Progeria syndromes Panel Panel

Germany.

By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

More info about this panel
Germany.

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel
Estonia.

Trichothiodystrofy: ERCC2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ERCC2 gene.

More info about this panel
Spain.

Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis that also includes the following genes: ERCC2 ERCC3

More info about this panel
Spain.

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

More info about this panel
Spain.

Trichothiodystrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy that also includes the following genes: RNF113A MPLKIP GTF2H5 NUPR1 ERCC2 ERCC3

More info about this panel
Spain.

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel
United States.

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
United States.

Hearing Loss NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2

More info about this panel
United States.

Xeroderma Pigmentosum NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Xeroderma Pigmentosum NGS Panel that also includes the following genes: XPA XPC DDB2 ERCC2 ERCC3 ERCC4 ERCC5

More info about this panel
United States.

Xeroderma Pigmentosum NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Xeroderma Pigmentosum NGS Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
United States.

ERCC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ERCC2 gene.

More info about this panel
United States.

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel
United States.

Ichthyosis Panel Panel

Finland.

By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1

More info about this panel
Finland.

Progeria and Progeroid Syndromes Panel Panel

Finland.

By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5

More info about this panel
Finland.

Ectodermal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2

More info about this panel
Finland.

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel
Finland.

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

More info about this panel
Finland.

Hereditary Melanoma and Skin Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Melanoma and Skin Cancer Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN XPA XPC SUFU POT1 CDK4 CDKN2A

More info about this panel
Finland.

Xeroderma Pigmentosum Panel Panel

Finland.

By Blueprint Genetics Xeroderma Pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
Finland.

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel
Finland.

Trichothiodystrophy Panel

Spain.

By Bioarray

This panel specifically test the ERCC2 gene.

More info about this panel
Spain.

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel
United States.

Genitourinary Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1

More info about this panel
United States.

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel
United States.

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel
United States.

XERODERMA PIGMENTOSUM Panel

Spain.

By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
Spain.

TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME) that also includes the following genes: GTF2H5 ERCC2 ERCC3

More info about this panel
Spain.

BREAST AND OVARIAN CANCER NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B

More info about this panel
Spain.

XERODERMA PIGMENTOSUM NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM NGS PANEL that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
Spain.

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel
United States.

Trichothiodystrophy , Sequencing ERCC2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ERCC2 gene.

More info about this panel
Spain.

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel
Spain.

Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3

More info about this panel
Spain.

Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
Spain.

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel
United States.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

Xeroderma Pigmentosum: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Xeroderma Pigmentosum: gene sequencing panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel
Canada.

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel
Canada.

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