Xeroderma Pigmentosum Group D

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).

  Similar diseases  

Genes related to Xeroderma Pigmentosum Group D

  • ERCC2

Clinical Features

Top most frequent phenotypes and symptoms related to Xeroderma Pigmentosum Group D

  • Defective DNA repair after ultraviolet radiation damage
  • Corneal neovascularization
  • Entropion
  • Poikiloderma
  • Telangiectasia
  • Keratoconjunctivitis sicca
  • Ectropion
  • Dermal atrophy
  • Choreoathetosis
  • Mental deterioration
View the complete list of symptoms

Incidence and onset information

Not enough data available about incidence and published cases.

Xeroderma Pigmentosum Group D Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ERCC2.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
ERCC2. Complete sequencing.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
CHOP Comprehensive Hereditary Cancer Panel.

XPA, GBA, SMARCA4, SDHC, RUNX1, SMAD4, RAD51C, GJB2, PTPN11, RAD51D, PTCH1, SDHB, PRKAR1A, ARID5B, CHEK2, RHBDF2, PTEN, IKZF1, PAX5, NBN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Trichothiodystrophy (sequence analysis of ERCC2 gene).

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
OncoRisk Plus (NGS panel for 89 genes).

PMS2, SLX4, BLM, DICER1, ERCC2, ERCC4, FANCG, EZH2, FANCL, TSC1, TMEM127, XPA, WRN, CEP57, CYLD, RAD51D, PRF1, PTCH1, RUNX1, BRCA1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Trichothiodystrophy (NGS panel of 5 genes).

RNF113A, ERCC2, MPLKIP, GTF2H5, ERCC3
Specificity
20 %
Genes
100 %
Compare panel coverage
Xeroderma Pigmentosum Sequencing Panel.

ERCC4, ERCC2, XPA, ERCC5, DDB2, POLH, XPC, ERCC3
Specificity
13 %
Genes
100 %
Compare panel coverage
Xeroderma Pigmentosum via the ERCC2 Gene.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
Mental retardation - different panels.

UBR1, UPB1, GATM, MOGS, KIF11, BCS1L, ANKH, RAB3GAP1, COG5, TUBGCP6, RMND1, SPATA5, TUBA8, GBA2, ZNF711, ACOX1, ISPD, ATP6V0A2, SETD5, SURF1 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Cataract.

CHMP4B, ABCB6, COL4A1, COL2A1, COL11A1, CRYGB, FOXC1, SLC16A12, SIX6, PITX2, PAX6, HSF4, EPG5, CRYGD, EPHA2, BFSP1, ERCC1, LTBP2, RAB3GAP1, SIL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Eye Diseases - panels.

ABCB6, ADAMTS2, BCOR, BMP7, VSX2, BFSP1, COL3A1, CRYBA4, CHD7, CHMP4B, EYA1, FAM126A, FBN1, GLA, GJA8, EPHA2, GRIP1, ERCC1, ERCC2, JAM3 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Hereditary Cancer Syndromes - panels.

ATM, BRCA2, BRIP1, BRCA1, CDH1, CDKN1C, CDKN2A, CHEK2, DICER1, GREM1, HNF1A, EGFR, EPCAM, ERCC2, FANCB, FH, MSH6, NBN, PTCH1, SMAD4 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

SALL2, BMP4, BCOR, ABCB6, CYP1B1, CRYBA4, CHD7, ERCC2, ERCC1, GDF6, GDF3, GJA1, RAX, HCCS, GRIP1, SOX2, MAB21L2, VSX2, TGIF1, RAB3GAP1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
AllNeuro panel.

MTOR, JRK, CAV3, NXF5, AMPD2, SCN3A, ZCCHC12, ARSI, USP8, TTN, TBL1XR1, TFG, DHTKD1, ERLIN1, LIMS2, MAG, DAG1, HMGCS2, MTR, PTS , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Xeroderma pigmentosum, group D.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
Trichothiodystrophy.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
Disorders associated with malignancy Panel.

TSC1, TINF2, NOP10, PMS2, RTEL1, ATM, ERCC2, ERCC8, PTCH1, NF1, WRAP53, DKC1, TERT, SDHB, PTEN, MSH2, PRKAR1A, PDGFRB, RHBDF2, MSH6 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
Ichthyoses and related disorders of cornification Panel.

ERCC2, AAGAB, SPINK5, RHBDF2, AP1S1, STS, JUP, DSP, KRT6C, VPS33B, ST14, SLC27A4, ALMS1, ABCA12, ATP2C1, KRT9, WNT10A, SNAP29, POMP, PNPLA1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Xeroderma pigmentosum Panel.

ERCC2, XPA, ERCC4, XPC, ERCC3, DDB2, POLH, ERCC5
Specificity
13 %
Genes
100 %
Compare panel coverage
Ataxia and differential diagnoses Panel.

CYP27A1, POLR3A, CACNA1A, COX20, GMPPB, RARS, APTX, NHLRC1, KIF1C, CLCN2, ATP7B, NEU1, PDP1, SNAP25, NPC1, CA8, RPGRIP1L, SLC17A5, CWF19L1, TDP1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

FKRP, NDUFA12, COL4A1, PEX14, APOPT1, ERCC2, PLEKHG2, NUBPL, NDUFAF6, NDUFA1, GLA, PLA2G6, PEX16, NDUFS2, COX15, DDHD2, SCP2, HSD17B4, IDS, NDUFAF5 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Single gene testing ERCC2.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
Progeria syndromes Panel.

B4GALT7, BLM, ERCC4, ERCC2, ERCC8, LMNA, GTF2H5, PYCR1, WRN, BANF1, ALDH18A1, ERCC5, ERCC3, ERCC6, PTDSS1, POLD1, RECQL4, ZMPSTE24
Specificity
6 %
Genes
100 %
Compare panel coverage
Cancer Predisposition.

HRAS, PTEN, WT1, TP53, SMAD4, SDHB, PRKAR1A, PALB2, NF1, MUTYH, EGFR, CHEK2, DICER1, RAD51C, RET, PTCH1, MET, STK11, VHL, NBN , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Neuromuscular Comprehensive Panel.

KIF21A, COA3, NDUFB3, DYSF, NDUFS1, PIEZO2, BIN1, RAPSN, APOPT1, SYT2, SGCE, NEK9, SCO1, NDUFA1, TRPV4, ITGA7, ACTA1, PTEN, MYPN, CAV3 , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Trichothiodystrofy: ERCC2 gene sequence analysis.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis.

ERCC2, ERCC3
Specificity
50 %
Genes
100 %
Compare panel coverage
ONCOLOGY, PANEL.

BRCA1, ATM, BRCA2, BRIP1, CDH1, CDKN1B, DKC1, CDKN2A, CHEK2, GREM1, ERCC2, FANCB, FH, MSH6, NBN, PTCH1, SMAD4, MLH1, MSH2, PRKAR1A , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Trichothiodystrophy.

ERCC2, GTF2H5, MPLKIP, NUPR1, RNF113A, ERCC3
Specificity
17 %
Genes
100 %
Compare panel coverage
Hereditary Cancer NGS Panel.

HRAS, WT1, PTPN11, PTEN, RBBP8, BRCA2, PRKAR1A, ERCC4, XRCC3, MSH3, ERCC2, RET, EXO1, APC, CTNNB1, MSH6, PMS2, SDHC, MPL, TP53 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Intellectual Disability NGS Panel.

SATB2, POMT1, FKTN, FKRP, POMT2, KRAS, PTPN11, GBA, PTEN, RBBP8, ATP1A2, FGFR2, BRCA2, PRKAR1A, PAX6, HAX1, USP9X, RAB40AL, GAMT, SLC2A1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Hearing Loss NGS Panel.

KCNQ1, KCNE1, SIX1, TCF21, GSTP1, FOXI1, CRYM, TMPRSS5, MYO1C, MYO1F, TRMU, EYA1, EDNRB, EDN3, TECTA, ATP6V1B1, MYO1A, DSPP, PDZD7, SPINK5 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Xeroderma Pigmentosum NGS Panel.

XPA, ERCC2, ERCC4, ERCC5, DDB2, ERCC3, XPC
Specificity
15 %
Genes
100 %
Compare panel coverage
Xeroderma Pigmentosum NGS Panel.

XPA, ERCC1, ERCC4, ERCC2, XPC, ERCC5, DDB2, ERCC3, POLH
Specificity
12 %
Genes
100 %
Compare panel coverage
ERCC2.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
Comprehensive Cancer Panel.

TMEM127, RET, CDH1, CDKN1B, MPL, XPA, EXO1, MAX, EGLN1, BRIP1, FANCB, KIF1B, CYLD, RBBP8, MUTYH, ERCC4, FANCL, ROBO2, ERCC2, MSH3 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Ichthyosis Panel.

ABCA12, ALG8, EBP, GJB2, ERCC2, KRT9, PEX7, FLG, GJA1, PHYH, SUMF1, CYP4F22, STS, TGM1, ALOXE3, KRT1, KRT2, ALOX12B, GJB3
Specificity
6 %
Genes
100 %
Compare panel coverage
Progeria and Progeroid Syndromes Panel.

AGPAT2, COL3A1, ERCC2, ERCC4, B4GALT7, LMNA, WRN, BLM, ERCC8, PYCR1, ALDH18A1, BSCL2, ERCC6, ERCC5, RECQL4, ZMPSTE24
Specificity
7 %
Genes
100 %
Compare panel coverage
Ectodermal Dysplasia Panel.

ABCC9, BCS1L, EVC2, GJB2, ERCC2, IFT122, IKBKG, JUP, PORCN, SHOC2, WNT10A, DSP, WDR35, EVC, GJB6, RMRP, EDA, TP63, EDAR
Specificity
6 %
Genes
100 %
Compare panel coverage
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

ABCB6, BCOR, CHD7, ERCC2, HCCS, COL4A1, CYP1B1, OCRL, PAX6, RAB3GAP1, FOXC1, GJA1, PITX2, BMP4, SOX2, VPS13B, ERCC6, FOXE3, FOXL2, NDP , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
Hereditary Melanoma and Skin Cancer Panel.

BRCA2, BRCA1, CDKN2A, ERCC2, PTCH1, ERCC4, TP53, WRN, PTEN, XPA, BAP1, CDK4, DDB2, ERCC3, ERCC5, MITF, RB1, SUFU, XPC
Specificity
6 %
Genes
100 %
Compare panel coverage
Xeroderma Pigmentosum Panel.

ERCC2, ERCC4, XPA, DDB2, ERCC3, ERCC5, XPC
Specificity
15 %
Genes
100 %
Compare panel coverage
Cataract Panel.

ABCB6, BCOR, EYA1, FAM126A, GJA8, ERCC2, LIM2, HSF4, NHS, COL2A1, COL4A1, COL11A1, OCRL, PAX6, OPA3, PITX3, RAB3GAP1, SIL1, GJA1, AGK , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Comprehensive Hereditary Cancer Panel.

ATM, BRCA2, BRIP1, BRCA1, CDH1, CDKN1B, DKC1, CDKN1C, CDKN2A, CHEK2, DICER1, GREM1, HNF1A, EGFR, EPCAM, ERCC2, EXO1, FANCB, FH, MSH6 , (...)

View the complete list with 96 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Trichothiodystrophy.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
Solid Tumor Gene Set.

TGFBR2, SMAD2, SHOC2, SOS1, PBRM1, KMT2C, MAP3K3, KEAP1, KMT2D, GATA4, FAT1, ERCC2, CDKN1B, CDK12, MYBL1, MYB, MN1, KLF4, HIST1H3B, H3F3A , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Genitourinary Tumors Gene Set.

BRCA2, FGFR3, KDM6A, ERCC2, PTCH1, PBRM1, KMT2C, KMT2D, MET, NF1, FGFR2, BRCA1, TERT, EGFR, TP53, BRAF, AKT2, ERBB2, AR, MTOR , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

TMPRSS5, TCF21, MYO1F, MYO1C, MTAP, MT-TM, MT-TL2, MIR183, GSTP1, CEMIP, TFCP2, MIR182, EDNRA, CRYM, MT-TL1, MT-TI, STRC, PMP22, NR2F1, COL9A2 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
XERODERMA PIGMENTOSUM.

ERCC1, XPA, ERCC4, ERCC2, ERCC5, DDB2, POLH, XPC, ERCC3
Specificity
12 %
Genes
100 %
Compare panel coverage
TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME).

GTF2H5, ERCC2, ERCC3
Specificity
34 %
Genes
100 %
Compare panel coverage
Providence Personalized Medicine Panel - Solid Tumor.

ABL1, AR, ATRX, B2M, ARID5B, ATM, BRCA2, CALR, BCL2, BCOR, BRIP1, CD79A, AXIN1, AXL, BCORL1, BRCA1, CDH1, CBLB, CBL, CTNNB1 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Trichothiodystrophy , Sequencing ERCC2 Gene.

ERCC2
Specificity
100 %
Genes
100 %
Compare panel coverage
152 Integrated Advantage NGS Solid Tumor Panel.

CTNNB1, MAP2K4, XPA, TOP2A, NRAS, PLK1, RAD51C, KRAS, GSTP1, ERCC1, CYP2D6, ABCB1, CDKN1B, MYD88, TSC1, JAK3, AR, ATRX, PDGFRB, MAP2K1 , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Tempus xT assay.

ING1, PRKAR1A, WRN, DDR2, TSC1, IFNAR2, KDM5A, HLA-A, U2AF1, BRIP1, FANCL, PTPN13, STAT5A, TRAF3, CSF1R, HNF1B, MAPK1, SMARCA4, INPP4B, NTRK1 , (...)

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

CSK, TWIST1, NUMBL, FBXW11, MSH3, EZH1, PIM1, KLF12, CDX2, ESPL1, SETD1A, HOXC11, INTS12, EIF1AX, NAB1, NRG3, SKI, SF1, PBX3, PAK5 , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage

Alternate names

Xeroderma Pigmentosum Group D Is also known as xp, group d;xpdc, xeroderma pigmentosum iv, xp4 xeroderma pigmentosum viii, formerly;xp8, formerly, xp, group h, formerly;xph, formerly.

Sources

OMIM

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