Xeroderma Pigmentosum, Complementation Group F; Xpf

Description

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

Incidence and onset information

Not enough data available about incidence and published cases.
— Phenotypic variability

Xeroderma Pigmentosum, Complementation Group F; Xpf Common symptoms

Top most frequent phenotypes related to Xeroderma Pigmentosum, Complementation Group F; Xpf

  • Numerous pigmented freckles
  • Defective DNA repair after ultraviolet radiation damage
  • Brain atrophy
  • Neoplasm of the skin
  • Decreased body weight
  • Astigmatism
  • Cutaneous photosensitivity
  • Papule
  • Dementia
  • Deeply set eye
And 10 less frequent phethotypes (you can get a complete list using our application).

Genes related to Xeroderma Pigmentosum, Complementation Group F; Xpf

  • ERCC4

Xeroderma Pigmentosum, Complementation Group F; Xpf Recommended genes panels

Panel Name & Genes Tested specificity Genes covered
Bone Marrow Failure

BRIP1, BRCA2, DKC1, GATA1, FANCB, NBN, NHP2, RPL11, RPS26, RPL5, FANCC, MPL, FANCL, RPS27A, THPO, XRCC2, FANCI, FANCD2, FANCF, PALB2 , (...)

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3 % 100 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS)

RPS10, RPL11, GATA2, GFI1, PALB2, BRIP1, AP3B1, RAB27A, TAZ, WAS, ELANE, TERC, RPL15, RBM8A, FANCI, MPL, GATA1, LYST, NHP2, CSF3R , (...)

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2 % 100 %
Fanconi Anemia Panel by next-generation sequencing (NGS)

BRCA2, FANCF, PALB2, FANCL, BRIP1, FANCI, FANCD2, FANCC, FANCB, ERCC4, RAD51C, FANCM, FANCG, FANCE, FANCA, SLX4

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7 % 100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel

FANCL, FANCC, TAZ, TERC, CSF3R, RPS26, RPL5, RBM8A, G6PC3, FANCI, MPL, LYST, RTEL1, RMRP, GATA2, GFI1, PALB2, BRIP1, AP3B1, RAB27A , (...)

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2 % 100 %
Fanconi Anemia Deletion/Duplication Panel

BRCA2, FANCF, PALB2, FANCL, BRIP1, FANCI, FANCC, FANCB, FANCA, ERCC4, SLX4, RAD51C, FANCM, FANCG, FANCE

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7 % 100 %
ERCC4 (FANCQ) Deletion/duplication analysis

ERCC4

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100 % 100 %
ERCC4 (FANCQ) Sequencing

ERCC4

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100 % 100 %
Fanconi Anemia Sequencing Panel

FANCC, FANCD2, FANCI, BRCA2, FANCB, BRIP1, FANCL, PALB2, XRCC2, FANCF, FANCM, FANCG, SLX4, RAD51C, UBE2T, FANCA, ERCC4, FANCE

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6 % 100 %
Ataxia Exome Panel

AAAS, AHI1, HIBCH, SPG21, AP1S2, AP4M1, AP4S1, ALG6, ARL6IP1, NAXE, ABCD1, ALS2, APOB, BTD, HSD17B4, ACO2, ATM, ATP7B, ATP8A2, CACNB4 , (...)

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1 % 100 %
Inherited Bone Marrow Failure Sequencing Panel

FANCD2, BRCA2, HAX1, RPL15, RPL5, NHP2, RBM8A, MPL, RUNX1, SAMD9, POT1, ACD, WAS, G6PC3, XRCC2, FANCB, PALB2, BRIP1, FANCC, NAF1 , (...)

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2 % 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 , (...)

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1 % 100 %
Breast cancer (NGS panel for 18 genes)

BRCA2, CDH1, BRCA1, MSH2, ATM, RAD51D, PALB2, CHEK2, TP53, BRIP1, MSH6, MLH1, STK11, MUTYH, PTEN, PMS2, ERCC4, RAD51C

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6 % 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 %
Fanconi Anemia Sequencing Panel

RAD51, PALB2, BRIP1, FANCI, FANCF, FANCD2, BRCA2, FANCB, BRCA1, FANCL, FANCC, FANCA, FANCG, SLX4, RAD51C, ERCC4, FANCM, FANCE, UBE2T

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6 % 100 %
Xeroderma Pigmentosum Sequencing Panel

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

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13 % 100 %
Xeroderma Pigmentosum via the ERCC4 Gene

ERCC4

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100 % 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 %
Fanconi anemia, complementation group Q

ERCC4

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100 % 100 %
Fanconi anemia, complementation group Q

ERCC4

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100 % 100 %
XFE progeroid syndrome

ERCC4

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100 % 100 %
Xeroderma pigmentosum, group F

ERCC4

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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 %
Xeroderma pigmentosum Panel

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

More info about this panel
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 %
Single gene testing ERCC4

ERCC4

More info about this panel
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

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2 % 100 %
Fanconi Anemia

BRIP1, FANCL, FANCC, XRCC2, FANCF, FANCD2, FANCI, BRCA2, FANCB, PALB2, ERCC4, FANCA, FANCM, FANCE, FANCG, SLX4, RAD51C

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6 % 100 %
Invitae Bone Marrow Failure Syndromes Panel

NHP2, RPL11, RPS26, FANCF, FANCL, FANCD2, MPL, BRCA2, TERC, XRCC2, WAS, ELANE, RUNX1, GATA1, FANCI, FANCB, DKC1, RPS10, GATA2, RPL5 , (...)

View the complete list with 19 more genes

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3 % 100 %
Invitae Fanconi Anemia Panel

FANCD2, XRCC2, BRCA2, FANCF, PALB2, FANCL, BRIP1, FANCI, FANCC, FANCB, SLX4, ERCC4, RAD51C, FANCG, FANCE, FANCA, FANCM

More info about this panel
6 % 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

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2 % 100 %
Fanconi Anemia NGS Panel

FANCI, BRCA2, FANCB, BRIP1, PALB2, FANCL, FANCF, FANCD2, FANCC, ERCC4, RAD51C, FANCM, FANCG, SLX4, FANCE, FANCA

More info about this panel
7 % 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

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1 % 100 %
Xeroderma Pigmentosum NGS Panel

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

More info about this panel
15 % 100 %
Xeroderma Pigmentosum NGS Panel

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

More info about this panel
12 % 100 %
ERCC4

ERCC4

More info about this panel
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

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1 % 100 %
Fanconi Anemia Comprehensive Panel

XRCC2, FANCD2, BRIP1, FANCB, FANCL, FANCI, FANCF, FANCC, PALB2, BRCA2, FANCA, FANCM, ERCC4, FANCE, SLX4, FANCG, RAD51C

More info about this panel
6 % 100 %
Anemia Panel

ADAMTS13, ATM, BRCA2, BRIP1, GATA1, HFE, HBA1, FANCB, GPI, NBN, PC, PKLR, RPL11, RPL15, RPS26, RPS29, RPL5, FANCC, KLF1, FANCL , (...)

View the complete list with 48 more genes

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2 % 100 %
Fanconi Anemia Panel

ATM, BRCA2, BRIP1, FANCB, NBN, FANCC, FANCL, XRCC2, FANCI, FANCD2, FANCF, PALB2, CXCR4, FANCE, RAD51C, ERCC4, FANCA, FANCM, BLM, FANCG , (...)

View the complete list with 2 more genes

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5 % 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 %
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

More info about this panel
15 % 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

More info about this panel
1 % 100 %
Comprehensive Hematology Panel

ABCA3, ADAMTS13, ACTN1, AP3B1, ATM, BRCA2, BLOC1S3, BRIP1, CTSC, F5, F9, DKC1, CDKN2A, ELANE, GATA1, G6PC3, HAX1, HFE, HBA1, FANCB , (...)

View the complete list with 155 more genes

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1 % 100 %
Bone Marrow Failure Syndrome Panel

AP3B1, ATM, BRCA2, BLOC1S3, BRIP1, CTSC, DKC1, CDKN2A, ELANE, GATA1, G6PC3, HAX1, FANCB, GATA2, MSH6, NBN, HPS5, IFNGR2, MLH1, MSH2 , (...)

View the complete list with 73 more genes

More info about this panel
2 % 100 %
Inherited Bone Marrow Failure Panel

THPO, MPL, HAX1, TERF1, TERC, RTEL1, POT1, NHP2, DKC1, CTC1, ACD, RPS26, RPS10, RPL15, RPL11, RPL5, WAS, GFI1, G6PC3, ELANE , (...)

View the complete list with 38 more genes

More info about this panel
2 % 100 %
XERODERMA PIGMENTOSUM

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

More info about this panel
12 % 100 %

Alternate names

Xeroderma Pigmentosum, Complementation Group F; Xpf Is also known as xp, group f, xeroderma pigmentosum vi;xp6.

Sources

OMIM

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