Xeroderma Pigmentosum, Complementation Group A; Xpa

Description

Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (OMIM ) (Satokata et al., 1992).See also XPB (OMIM ), XPC (OMIM ), XPD (OMIM ), XPE (OMIM ), XPF (OMIM ), XPG (OMIM ), and variant XP (XPV ).

Clinical Features

Top most frequent phenotypes and symptoms related to Xeroderma Pigmentosum, Complementation Group A; Xpa

  • Intellectual disability
  • Pica
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Sensorineural hearing impairment
  • Spasticity
  • Anemia
  • Neoplasm
  • Tics
And another 19 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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Xeroderma Pigmentosum, Complementation Group A; Xpa Recommended genes panels

Panel Name, Specifity and genes Tested/covered
XPC. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

XPC
Specificity
100 %
Genes
50 %
Xeroderma pigmentosum disease (sequence analysis of XPC gene).

By CGC Genetics in Portugal.

XPC
Specificity
100 %
Genes
50 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
3 %
Genes
100 %
Xeroderma Pigmentosum via XPC Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

XPC
Specificity
100 %
Genes
50 %
Xeroderma Pigmentosum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2
Specificity
25 %
Genes
100 %
Xeroderma pigmentosum Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
23 %
Genes
100 %
Xeroderma pigmentosum NGS panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
23 %
Genes
100 %
Xeroderma pigmentosum Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
23 %
Genes
100 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

APC, PTEN, TP53, FOXL2, TYRP1, RET, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, CDK4, CDKN2A, MET, NF1, GRIN2A, HGF, ERCC2, CTNNB1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
2 %
Genes
100 %
Xeroderma pigmentosum, group C.

By Centogene AG - the Rare Disease Company in Germany.

XPC
Specificity
100 %
Genes
50 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1 , (...)

View the complete list with 25 more genes
Specificity
5 %
Genes
100 %
Xeroderma pigmentosum Panel.

By CeGaT GmbH in Germany.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2
Specificity
25 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
3 %
Genes
100 %
ONCOLOGY, PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
3 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
2 %
Genes
100 %
XPC-related xeroderma pigmentosum.

By Integrated Genetics Westborough Integrated Genetics in United States.

XPC
Specificity
100 %
Genes
50 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
2 %
Genes
100 %
Xeroderma Pigmentosum NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, DDB2
Specificity
29 %
Genes
100 %
Xeroderma Pigmentosum NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
23 %
Genes
100 %
XPC.

By Fulgent Genetics Fulgent Genetics in United States.

XPC
Specificity
100 %
Genes
50 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
2 %
Genes
100 %
Hereditary Melanoma and Skin Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, PTEN, TP53, PTCH1, SUFU, CDK4, CDKN2A, ERCC2, ERCC3, MITF, BAP1, ERCC4, POT1, WRN, ERCC5, XPA, XPC, DDB2
Specificity
11 %
Genes
100 %
Xeroderma Pigmentosum Panel.

By Blueprint Genetics in Finland.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
23 %
Genes
100 %
Xeroderma pigmentosum complementation group C.

By Bioarray in Spain.

XPC
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
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 %
XERODERMA PIGMENTOSUM.

By Laboratorio de Genetica Clinica SL in Spain.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
23 %
Genes
100 %
Xeroderma Pigmentosum Group C , Sequencing XPC Gene.

By Reference Laboratory Genetics in Spain.

XPC
Specificity
100 %
Genes
50 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
3 %
Genes
100 %
Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
23 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Xeroderma Pigmentosum: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
23 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
2 %
Genes
100 %
Xeroderma Pigmentosum: gene deletion and duplication panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

XPC, POLH
Specificity
50 %
Genes
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
50 %
XPA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

XPA
Specificity
100 %
Genes
50 %
CHOP Comprehensive Hereditary Cancer Panel.

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

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Xeroderma pigmentosum disease (sequence analysis of XPA gene).

By CGC Genetics in Portugal.

XPA
Specificity
100 %
Genes
50 %
Xeroderma Pigmentosum via the XPA Gene.

By PreventionGenetics PreventionGenetics in United States.

XPA
Specificity
100 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Xeroderma pigmentosum, group A.

By Centogene AG - the Rare Disease Company in Germany.

XPA
Specificity
100 %
Genes
50 %
Xeroderma pigmentosum, type 1.

By Integrated Genetics Westborough Integrated Genetics in United States.

XPA
Specificity
100 %
Genes
50 %
XPA.

By Fulgent Genetics Fulgent Genetics in United States.

XPA
Specificity
100 %
Genes
50 %
Xeroderma pigmentosum.

By Bioarray in Spain.

XPA
Specificity
100 %
Genes
50 %
Xeroderma Pigmentosum Group A , Sequencing XPA Gene.

By Reference Laboratory Genetics in Spain.

XPA
Specificity
100 %
Genes
50 %

Alternate names

Xeroderma Pigmentosum, Complementation Group A; Xpa Is also known as xp, group a, xeroderma pigmentosum i;xp1.



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