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 ).

  Similar diseases  

Genes related to Xeroderma Pigmentosum, Complementation Group F; Xpf

  • ERCC4

Clinical Features

Top most frequent phenotypes and symptoms 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
View the complete list of symptoms

Incidence and onset information

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

Xeroderma Pigmentosum, Complementation Group F; Xpf Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure.

BRIP1, BRCA2, DKC1, GATA1, FANCB, NBN, NOP10, RAD51C, RPL11, RPS24, RPS26, ERCC4, SRP72, TERT, WRAP53, MPL, FANCL, RPS27A, THPO, FANCG , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

WRAP53, TINF2, TERT, RTEL1, CSF3R, VPS45, ERCC4, DKC1, RPS17, RPS24, RPS26, RPL11, RPL26, SRP72, FANCL, FANCG, SLX4, RAD51C, GFI1, PALB2 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Fanconi Anemia Panel by next-generation sequencing (NGS).

BRCA2, ERCC4, RAD51C, PALB2, FANCL, BRIP1, FANCG, FANCB, SLX4, FANCF, FANCM, FANCI, FANCE, FANCD2, FANCC, FANCA
Specificity
7 %
Genes
100 %
Compare panel coverage
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

TERT, RTEL1, CSF3R, VPS45, ERCC4, RPS24, RPS26, RPL11, RPL26, SRP72, FANCL, FANCG, WRAP53, SLX4, RAD51C, GFI1, PALB2, HAX1, BRIP1, RAC2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Fanconi Anemia Deletion/Duplication Panel.

ERCC4, BRCA2, SLX4, RAD51C, PALB2, FANCL, BRIP1, FANCG, FANCB, FANCA, FANCF, FANCM, FANCI, FANCE, FANCC
Specificity
7 %
Genes
100 %
Compare panel coverage
ERCC4 (FANCQ) Deletion/duplication analysis.

ERCC4
Specificity
100 %
Genes
100 %
Compare panel coverage
ERCC4 (FANCQ) Sequencing.

ERCC4
Specificity
100 %
Genes
100 %
Compare panel coverage
Inherited Bone Marrow Failure Sequencing Panel.

NAF1, SAMD9L, SRP72, VPS45, GFI1, CSF3R, FANCB, ERCC4, BRCA2, RTEL1, HAX1, GATA1, SLX4, RAD51C, PALB2, FANCL, BRIP1, FANCG, WRAP53, RPS24 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Fanconi Anemia Sequencing Panel.

FANCB, UBE2T, ERCC4, FANCL, FANCG, SLX4, RAD51C, PALB2, BRIP1, BRCA2, XRCC2, FANCM, FANCF, FANCE, FANCD2, FANCC, FANCA, FANCI
Specificity
6 %
Genes
100 %
Compare panel coverage
Ataxia Exome Panel.

AAAS, AHI1, NT5C2, PTS, AP4M1, AP4B1, AP4E1, AP4S1, ARL6IP1, NAXE, APTX, RARS2, ABCD1, RARS, BTD, HSD17B4, ACO2, ATM, ATP7B, ATP1A3 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

ANKRD26, ATM, BRCA2, BRIP1, BRCA1, CBL, DKC1, CHEK2, GATA1, HAX1, FANCB, MSH6, NBN, CSF3R, IKZF1, PAX5, MLH1, MSH2, NOP10, RAD51C , (...)

View the complete list with 59 more genes
Specificity
2 %
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
Breast cancer (NGS panel for 18 genes).

BRCA2, CDH1, ERCC4, BRCA1, MSH2, ATM, RAD51D, RAD51C, PALB2, CHEK2, TP53, BRIP1, MSH6, MLH1, STK11, MUTYH, PTEN, PMS2
Specificity
6 %
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
Fanconi Anemia Sequencing Panel.

FANCB, BRCA1, UBE2T, ERCC4, FANCL, FANCG, SLX4, RAD51C, PALB2, BRIP1, BRCA2, XRCC2, MAD2L2, RAD51, FANCM, FANCF, FANCE, FANCD2, FANCC, FANCA , (...)

View the complete list with 1 more genes
Specificity
5 %
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 ERCC4 Gene.

ERCC4
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
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
Fanconi anemia, complementation group Q.

ERCC4
Specificity
100 %
Genes
100 %
Compare panel coverage
Fanconi anemia, complementation group Q.

ERCC4
Specificity
100 %
Genes
100 %
Compare panel coverage
XFE progeroid syndrome.

ERCC4
Specificity
100 %
Genes
100 %
Compare panel coverage
Xeroderma pigmentosum, group F.

ERCC4
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
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
Single gene testing ERCC4.

ERCC4
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
Fanconi Anemia.

FANCB, ERCC4, FANCL, FANCG, SLX4, RAD51C, PALB2, BRIP1, BRCA2, XRCC2, FANCM, FANCF, FANCE, FANCD2, FANCC, FANCA, FANCI
Specificity
6 %
Genes
100 %
Compare panel coverage
Invitae Bone Marrow Failure Syndromes Panel.

RUNX1, BRCA2, RPL26, TERT, TINF2, DKC1, NOP10, RPL11, RPS24, RPS26, GATA1, SLX4, ERCC4, RAD51C, PALB2, FANCL, BRIP1, FANCG, FANCB, MPL , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
Invitae Fanconi Anemia Panel.

BRCA2, SLX4, ERCC4, RAD51C, PALB2, FANCL, BRIP1, FANCG, FANCB, FANCD2, XRCC2, FANCF, FANCI, FANCE, FANCC, FANCA, FANCM
Specificity
6 %
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
Fanconi Anemia NGS Panel.

BRCA2, ERCC4, FANCB, BRIP1, PALB2, RAD51C, FANCL, FANCG, SLX4, FANCI, FANCM, FANCF, FANCE, FANCD2, FANCC, FANCA
Specificity
7 %
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
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
ERCC4.

ERCC4
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
Fanconi Anemia Comprehensive Panel.

RAD51C, FANCL, SLX4, BRCA2, FANCB, ERCC4, PALB2, BRIP1, FANCG, XRCC2, FANCA, FANCE, FANCF, FANCM, FANCI, FANCC, FANCD2
Specificity
6 %
Genes
100 %
Compare panel coverage
Anemia Panel.

ADAMTS13, MTR, ANK1, ATRX, ATM, BRCA2, BRIP1, GATA1, FANCB, G6PD, GPI, HBA2, NBN, PC, PDHA1, RAD51C, RPL11, RPS24, RPS26, RPS29 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Fanconi Anemia Panel.

ATM, BRCA2, BRIP1, FANCB, NBN, RAD51C, ERCC4, FANCL, BLM, FANCG, PALB2, SLX4, CXCR4, FANCE, FANCA, FANCM, FANCC, XRCC2, ATR, FANCI , (...)

View the complete list with 2 more genes
Specificity
5 %
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
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
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
Comprehensive Hematology Panel.

ABCA3, ADAMTS13, MTR, AK2, ANK1, ANKRD26, ATRX, ATM, BRCA2, BLOC1S3, BRIP1, CTSC, F5, F9, DKC1, DTNBP1, CDKN2A, F13A1, GATA1, HAX1 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Bone Marrow Failure Syndrome Panel.

AK2, ATM, BRCA2, BLOC1S3, BRIP1, CTSC, DKC1, DTNBP1, CDKN2A, GATA1, HAX1, FANCB, MYO5A, MSH6, NBN, HPS5, IFNGR2, MLH1, MSH2, NOP10 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Inherited Bone Marrow Failure Panel.

THPO, MPL, HAX1, SRP72, WRAP53, TINF2, TERF2IP, TERF2, RTEL1, NOP10, DKC1, RPS26, RPS24, RPS17, RPL26, RPL11, GFI1, CSF3R, FANCB, ERCC4 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
XERODERMA PIGMENTOSUM.

ERCC1, XPA, ERCC4, ERCC2, ERCC5, DDB2, POLH, XPC, ERCC3
Specificity
12 %
Genes
100 %
Compare panel coverage
FANCONI ANEMIA: NGS PANEL.

FANCB, ERCC4, FANCG, SLX4, RAD51C, PALB2, BRIP1, UBE2T, FANCL, BRCA2, FANCD2, FANCI, FANCC, FANCA, XRCC2, FANCF, FANCE
Specificity
6 %
Genes
100 %
Compare panel coverage
Phosphorus Leukemia including Fanconi Anemia Genes Panel.

PMS2, RUNX1, MLH1, BLM, NBN, MSH2, MSH6, DKC1, EPCAM, NF1, ATM, TINF2, TP53, HRAS, TERT, FANCB, ERCC4, BRCA2, SLX4, RAD51C , (...)

View the complete list with 15 more genes
Specificity
3 %
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, Complementation Group F; Xpf Is also known as xp, group f, xeroderma pigmentosum vi;xp6.

Sources

OMIM

Other rare diseases that you may find interesting

YAO SYNDROME; YAOS