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).

Incidence and onset information

Not enough data available about incidence and published cases.

Xeroderma Pigmentosum Group D Common symptoms

Top most frequent phenotypes related to Xeroderma Pigmentosum Group D

  • Defective DNA repair after ultraviolet radiation damage
  • Entropion
  • Poikiloderma
  • Keratitis
  • Telangiectasia
  • Ectropion
  • Dermal atrophy
  • Choreoathetosis
  • Conjunctivitis
  • Mental deterioration
And 9 less frequent phethotypes (you can get a complete list using our application).

Genes related to Xeroderma Pigmentosum Group D

  • ERCC2

Xeroderma Pigmentosum Group D Recommended genes panels

Panel Name & Genes Tested specificity Genes covered
ERCC2

ERCC2

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100 % 100 %
ERCC2. Complete sequencing

ERCC2

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100 % 100 %
CHOP Comprehensive Hereditary Cancer Panel

XPA, GBA, SMARCA4, SDHAF2, SDHC, RUNX1, SMARCB1, COL7A1, SH2D1A, SMAD4, SLC25A13, SDHA, GJB2, CEBPA, POLE, PTPN11, RECQL4, RAD51D, HMBS, RMRP , (...)

View the complete list with 86 more genes

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1 % 100 %
Trichothiodystrophy (sequence analysis of ERCC2 gene)

ERCC2

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100 % 100 %
OncoRisk Plus (NGS panel for 89 genes)

PMS2, SMARCB1, SUFU, KIT, GATA2, ALK, AIP, BAP1, DDB2, DIS3L2, ERCC3, FANCF, FANCD2, FANCC, FANCL, FANCI, XPC, TSC1, TSC2, TMEM127 , (...)

View the complete list with 69 more genes

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2 % 100 %
Trichothiodystrophy (NGS panel of 5 genes)

ERCC3, RNF113A, GTF2H5, ERCC2, MPLKIP

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20 % 100 %
Xeroderma Pigmentosum Sequencing Panel

XPA, ERCC3, POLH, DDB2, XPC, ERCC4, ERCC2, ERCC5

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13 % 100 %
Xeroderma Pigmentosum via the ERCC2 Gene

ERCC2

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100 % 100 %
Cataract

CHMP4B, COL4A1, COL2A1, COL4A2, CRYBA1, GALK1, SLC33A1, FOXE3, CRYGS, RAB3GAP2, SLC16A12, SIX6, PITX2, HSF4, RAB18, EPG5, MIR184, RAB3GAP1, GLA, OPA3 , (...)

View the complete list with 45 more genes

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2 % 100 %
Eye Diseases - panels

ADAMTS10, TREX1, ADAMTS2, ACTG1, ALDH1A3, PHOX2A, ADAMTS17, BCOR, BMP7, VSX2, CTDP1, COL3A1, CHD7, COL9A1, ERCC6, CRYBA1, CRYBB1, CYP4V2, CHMP4B, FRMD7 , (...)

View the complete list with 146 more genes

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1 % 100 %
Hereditary Cancer Syndromes - panels

AIP, ALK, ATM, BRCA2, BMPR1A, BAP1, BRIP1, BRCA1, CDH1, CDK4, CDKN2A, CHEK2, DDB2, GREM1, EPCAM, ERCC3, FANCB, GATA2, MSH6, NBN , (...)

View the complete list with 80 more genes

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1 % 100 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC)

BCOR, CHD7, RAB3GAP2, GDF6, FREM2, GJA1, RAX, HCCS, GRIP1, ZIC2, STRA6, MFRP, ALDH1A3, VSX2, PAX2, RAB3GAP1, PRSS56, RAB18, HMX1, TFAP2A , (...)

View the complete list with 28 more genes

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3 % 100 %
AllNeuro panel

ADSL, JRK, CAV3, VDAC1, AMPD2, ARSI, TTN, NEDD4L, TFG, DHTKD1, MAG, MTHFR, ABHD5, ACTG1, ALG12, ALG6, ACY1, ADK, AGXT, IDUA , (...)

View the complete list with 1185 more genes

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1 % 100 %
Xeroderma pigmentosum, group D

ERCC2

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100 % 100 %
Trichothiodystrophy

ERCC2

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100 % 100 %
Disorders associated with malignancy Panel

TSC1, PMS2, RTEL1, ATM, ERCC8, NF1, DKC1, SDHB, PTEN, MSH2, ERCC3, POLH, RECQL4, TSC2, SDHD, MSH6, ERCC6, FERMT1, STK11, XPC , (...)

View the complete list with 25 more genes

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3 % 100 %
Ichthyoses and related disorders of cornification Panel

GJB6, ABHD5, AP1S1, STS, KRT6A, DSP, KRT6C, ST14, ALMS1, ATP2C1, ERCC3, GJB3, CSTA, AQP5, ELOVL4, SNAP29, POMP, PNPLA1, TAT, GJB2 , (...)

View the complete list with 45 more genes

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2 % 100 %
Xeroderma pigmentosum Panel

XPC, ERCC3, DDB2, XPA, POLH, ERCC2, ERCC5, ERCC4

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13 % 100 %
Ataxia and differential diagnoses Panel

CYP27A1, GRID2, CACNA1A, COX20, EIF2B3, KIF1C, SLC19A3, ATP7B, CLN6, NEU1, CSTB, PDP1, ATCAY, SNAP25, NPC1, EIF2B1, ERCC3, TTC19, ERCC6, TDP1 , (...)

View the complete list with 184 more genes

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1 % 100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

EIF2B2, FKRP, TMEM70, NDUFA1, AUH, IBA57, STX11, VPS11, PYCR2, SUCLA2, NPC2, ATP7B, NDUFS3, POMT1, POMGNT1, GFM1, OCRL, KCNT1, NDUFS4, FKTN , (...)

View the complete list with 155 more genes

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1 % 100 %
Single gene testing ERCC2

ERCC2

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100 % 100 %
Progeria syndromes Panel

ERCC3, ERCC8, ERCC6, LMNA, GTF2H5, PTDSS1, POLD1, RECQL4, PYCR1, WRN, B4GALT7, BLM, BANF1, ALDH18A1, ERCC5, ERCC4, ERCC2, ZMPSTE24

More info about this panel
6 % 100 %
Cancer Predisposition

HRAS, PTEN, WT1, TP53, SMARCB1, SMAD4, SDHB, PALB2, NF1, MUTYH, MEN1, KIT, CHEK2, AIP, SUFU, RET, ALK, MET, STK11, VHL , (...)

View the complete list with 69 more genes

More info about this panel
2 % 100 %
Neuromuscular Comprehensive Panel

KIF21A, COA3, NDUFB3, DYSF, PIEZO2, MYH3, ERCC6, RAPSN, NDUFAF4, APOPT1, FOXRED1, SYT2, SGCE, NDUFAF1, SCO1, NDUFA1, TRPV4, FARS2, OPA1, ITGA7 , (...)

View the complete list with 285 more genes

More info about this panel
1 % 100 %
Trichothiodystrofy: ERCC2 gene sequence analysis

ERCC2

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100 % 100 %
Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis

ERCC3, ERCC2

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50 % 100 %
ONCOLOGY, PANEL

BRCA1, ATM, BRCA2, BMPR1A, BRIP1, CDH1, CDKN1B, DKC1, CDK4, CDKN2A, CHEK2, ELANE, GREM1, ERCC3, FANCB, MSH6, NBN, HOXB13, SMAD4, MEN1 , (...)

View the complete list with 60 more genes

More info about this panel
2 % 100 %
Trichothiodystrophy

ERCC3, GTF2H5, RNF113A, ERCC2, MPLKIP, NUPR1

More info about this panel
17 % 100 %
Hereditary Cancer NGS Panel

HRAS, WT1, PTPN11, PTEN, RBBP8, BRCA2, AIP, XRCC2, RB1, SDHD, SMARCB1, RET, EXT1, APC, HOXB13, MSH6, PMS2, SDHAF2, PICALM, SDHC , (...)

View the complete list with 92 more genes

More info about this panel
1 % 100 %
Intellectual Disability NGS Panel

POMT1, FKTN, FKRP, MAPT, KRAS, PTPN11, GBA, PTEN, RBBP8, ATP1A2, FGFR2, BRCA2, PCNT, HAX1, USP9X, GAMT, SLC2A1, STXBP1, FOXG1, MECP2 , (...)

View the complete list with 372 more genes

More info about this panel
1 % 100 %
Hearing Loss NGS Panel

DIAPH1, KCNQ1, FOXI1, CRYM, TBL1X, TMPRSS5, MYO1C, MYO1F, TRMU, EDNRB, OTOF, ACTG1, GJB6, DSPP, PDZD7, PAX3, SLC4A11, GJB3, COL11A2, GJB2 , (...)

View the complete list with 83 more genes

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1 % 100 %
Xeroderma Pigmentosum NGS Panel

XPA, ERCC3, XPC, DDB2, ERCC2, ERCC5, ERCC4

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15 % 100 %
Xeroderma Pigmentosum NGS Panel

XPA, ERCC3, POLH, XPC, DDB2, ERCC1, ERCC2, ERCC4, ERCC5

More info about this panel
12 % 100 %
ERCC2

ERCC2

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100 % 100 %
Comprehensive Cancer Panel

TMEM127, RET, RAD51, CDH1, FANCD2, DDB2, CDKN1B, MPL, XPA, KIT, POLE, PMS1, EGLN1, XPC, TSC2, RECQL4, BRIP1, GALNT12, FANCB, AIP , (...)

View the complete list with 104 more genes

More info about this panel
1 % 100 %
Ichthyosis Panel

GJB2, KRT1, GJA1, PHYH, CYP4F22, GJB3, STS, ABCA12, ALG8, ALOXE3, EBP, ERCC2, KRT9, KRT2, PEX7, FLG, SUMF1, ALOX12B, TGM1

More info about this panel
6 % 100 %
Progeria and Progeroid Syndromes Panel

AGPAT2, BSCL2, COL3A1, ERCC6, LMNA, WRN, ERCC8, PYCR1, RECQL4, ALDH18A1, ERCC2, ERCC4, ERCC5, B4GALT7, BLM, ZMPSTE24

More info about this panel
7 % 100 %
Ectodermal Dysplasia Panel

EVC2, GJB2, EVC, GJB6, IKBKG, PORCN, RMRP, DSP, BCS1L, ERCC2, IFT122, JUP, EDA, SHOC2, TP63, WNT10A, EDAR, WDR35, ABCC9

More info about this panel
6 % 100 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel

BCOR, CHD7, ERCC6, FOXE3, HCCS, COL4A1, OCRL, PAX2, PQBP1, RAB3GAP1, SIX3, GJA1, PITX2, ZIC2, STRA6, TFAP2A, ABCB6, VPS13B, FOXL2, ERCC2 , (...)

View the complete list with 12 more genes

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4 % 100 %
Hereditary Melanoma and Skin Cancer Panel

BAP1, BRCA2, BRCA1, CDK4, CDKN2A, DDB2, ERCC3, TP53, WRN, RB1, PTEN, SUFU, XPC, XPA, ERCC2, PTCH1, ERCC4, ERCC5, MITF

More info about this panel
6 % 100 %
Xeroderma Pigmentosum Panel

DDB2, ERCC3, XPC, XPA, ERCC2, ERCC4, ERCC5

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15 % 100 %
Cataract Panel

BCOR, ERCC6, CRYBB1, FOXE3, GALK1, LIM2, GALT, HSF4, COL2A1, COL4A1, OCRL, OPA3, RAB3GAP1, SLC33A1, TMEM70, GJA1, AGK, WRN, TDRD7, MAF , (...)

View the complete list with 34 more genes

More info about this panel
2 % 100 %
Comprehensive Hereditary Cancer Panel

ALK, ATM, BRCA2, BMPR1A, BAP1, BRIP1, BRCA1, CDH1, CDKN1B, DKC1, CDK4, CDKN2A, CHEK2, DDB2, ELANE, GREM1, EPCAM, ERCC3, FANCB, GATA2 , (...)

View the complete list with 96 more genes

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1 % 100 %
Trichothiodystrophy

ERCC2

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100 % 100 %
Solid Tumor Gene Set

PIK3R2, TGFBR2, POLE, POLD1, SPRED1, RXRA, SOS1, PIK3C2B, PBRM1, KMT2C, MAP3K3, ESR2, CDKN1B, TRAF7, MYB, KLF4, DAXX, CHEK2, PPP2R1A, SMARCA4 , (...)

View the complete list with 102 more genes

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1 % 100 %
Genitourinary Tumors Gene Set

BRCA2, FGFR3, KDM6A, PBRM1, KMT2C, FBXW7, MET, RXRA, NF1, ERBB3, FGFR2, BRCA1, CREBBP, PIK3CA, TP53, BRAF, BAP1, TSC2, AR, MLH1 , (...)

View the complete list with 24 more genes

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3 % 100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

TMPRSS5, TBL1X, MYO1F, MYO1C, MT-TL2, GJB4, CEMIP, EDNRA, CRYM, MT-TL1, MT-TI, TJP2, GJA1, PDZD7, PAX3, MT-TS1, TIMM8A, TMPRSS3, KCNQ1, GJB2 , (...)

View the complete list with 109 more genes

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1 % 100 %
XERODERMA PIGMENTOSUM

DDB2, XPA, POLH, XPC, ERCC3, ERCC2, ERCC1, ERCC5, ERCC4

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12 % 100 %
TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME)

GTF2H5, ERCC3, ERCC2

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34 % 100 %
Providence Personalized Medicine Panel - Solid Tumor

ABL1, AR, ALK, AURKB, B2M, ARID5B, ARID1A, ATM, BRCA2, CBLC, CTCF, BCOR, BAP1, BRIP1, CD79A, AXIN1, AXL, BRCA1, CDH1, CASP8 , (...)

View the complete list with 288 more genes

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1 % 100 %
Trichothiodystrophy , Sequencing ERCC2 Gene

ERCC2

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100 % 100 %
152 Integrated Advantage NGS Solid Tumor Panel

MAP2K4, XPA, TOP2A, XPC, PIK3CA, NRAS, KRAS, EP300, EMSY, ABCB1, CDKN1B, MYCN, TSC1, KDR, AR, MAP2K1, AKT3, IDH2, TOP2B, SMAD4 , (...)

View the complete list with 132 more genes

More info about this panel
1 % 100 %

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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