1. Panels
  2. DNA Repair Genes pertinent cancer susceptibility
This Panel is marked as Internal

DNA Repair Genes pertinent cancer susceptibility (Version 1.1)

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Panel types: Cancer Germline 100K
Previous code: 594aa3c78f620375d17ea723
Description
A list of genes originally sourced from the Human DNA Repair Genes Database available here: http://sciencepark.mdanderson.org/labs/wood/dna_repair_genes.html which is an update of the table cited in Wood RD, Mitchell M, & Lindahl T Mutation Research, 2005, in Science, 2001, in the reference book DNA Repair and Mutagenesis, 2nd edition, 2006, and in Nature Reviews Cancer, 2011.
Panel Activity

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

178 Entities

11 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
178 Entitiess
Red List (low evidence)
ALKBH2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Direct reversal of damage
  • Activity: 1-meA dioxygenase
Tags
Red List (low evidence)
ALKBH3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Direct reversal of damage
  • Activity: 1-meA dioxygenase
Tags
Red List (low evidence)
APEX1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: AP endonuclease
Tags
Red List (low evidence)
APEX2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: AP endonuclease
Tags
Red List (low evidence)
APLF
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: Accessory factor for DNA end-joining
Tags
Red List (low evidence)
APTX
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: Processing of DNA single-strand interruptions
Tags
Red List (low evidence)
ATM
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: ataxia telangiectasia
Tags
Red List (low evidence)
ATR
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: ATM- and PI-3K-like essential kinase
Tags
Red List (low evidence)
ATRIP
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: ATR-interacting protein
Tags
Red List (low evidence)
BLM
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: Bloom syndrome helicase
Tags
Red List (low evidence)
BRCA1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Accessory factor for transcription and recombination, E3 Ubiquitin ligase
Tags
Red List (low evidence)
BRCA2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: Cooperation with RAD51, essential function
Tags
Red List (low evidence)
BRIP1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: DNA helicase, BRCA1-interacting
Tags
Red List (low evidence)
CCNH
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Kinase subunits of TFIIH
Tags
Red List (low evidence)
CDK7
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Kinase subunits of TFIIH
Tags
Red List (low evidence)
CETN2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA distortions
Tags
Red List (low evidence)
CHAF1A
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Chromatin Structure and Modification
  • Activity: Chromatin assembly factor
Tags
Red List (low evidence)
CHEK1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: Effector kinases
Tags
Red List (low evidence)
CHEK2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: Effector kinases
Tags
Red List (low evidence)
CLK2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: S-phase check point and biological clock protein
Tags
Red List (low evidence)
DCLRE1A
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA crosslink repair
Tags
Red List (low evidence)
DCLRE1B
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: Related to SNM1
Tags
Red List (low evidence)
DCLRE1C
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: Nuclease
Tags
Red List (low evidence)
DDB1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Complex defective in XP group E
Tags
Red List (low evidence)
DDB2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Complex defective in XP group E
Tags
Red List (low evidence)
DMC1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Rad51 homolog, meiosis
Tags
Red List (low evidence)
DUT
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Modulation of nucleotide pools
  • Activity: dUTPase
Tags
Red List (low evidence)
EME1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Subunits of structure-specific DNA nuclease
Tags
Red List (low evidence)
EME2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Subunits of structure-specific DNA nuclease
Tags
Red List (low evidence)
ENDOV
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: incision 3' of hypoxanthine and uracil in DNA and inosine in RNA
Tags
Red List (low evidence)
ERCC1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 5' incision DNA binding subunit
Tags
Red List (low evidence)
ERCC2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 5' to 3' DNA helicase
Tags
Red List (low evidence)
ERCC3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 3' to 5' DNA helicase
Tags
Red List (low evidence)
ERCC4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 5' incision catalytic subunit
Tags
Red List (low evidence)
ERCC5
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 3' incision
Tags
Red List (low evidence)
ERCC6
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Cockayne syndrome and UV-Sensitive Syndrome
  • Needed for transcription-coupled NER
Tags
Red List (low evidence)
ERCC8
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Cockayne syndrome and UV-Sensitive Syndrome
  • Needed for transcription-coupled NER
Tags
Red List (low evidence)
EXO1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 5' exonuclease
Tags
Red List (low evidence)
FAAP20
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: FANCA - associated
Tags
Red List (low evidence)
FAAP24
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: FAAP24
Tags
Red List (low evidence)
FAN1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 5' nuclease interacting with FANCD2
Tags
Red List (low evidence)
FANCA
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red List (low evidence)
FANCB
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red List (low evidence)
FANCC
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red List (low evidence)
FANCD2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: target for monoubiquitination
Tags
Red List (low evidence)
FANCE
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red List (low evidence)
FANCF
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red List (low evidence)
FANCG
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red List (low evidence)
FANCI
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: target for monoubiquitination
Tags
Red List (low evidence)
FANCL
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA:
Tags
Red List (low evidence)
FANCM
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: helicase/translocase
Tags
  • drug-toxicity
Red List (low evidence)
FEN1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 5' nuclease
Tags
Red List (low evidence)
GEN1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Nuclease cleaving Holliday junctions
Tags
Red List (low evidence)
GTF2H1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p62
Tags
Red List (low evidence)
GTF2H2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p44
Tags
Red List (low evidence)
GTF2H3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p34
Tags
Red List (low evidence)
GTF2H4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p52
Tags
Red List (low evidence)
GTF2H5
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p8
Tags
Red List (low evidence)
H2AFX
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Chromatin Structure and Modification
  • Activity: Histone, phosphorylated after DNA damage
Tags
  • new-gene-name
Red List (low evidence)
HELQ
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA helicase
Tags
Red List (low evidence)
HLTF
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase, SWI/SNF related, homolog of S. cerevisiae Rad5
Tags
Red List (low evidence)
HUS1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: subunits of PCNA-like sensor of damaged DNA
Tags
Red List (low evidence)
LIG1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: DNA ligase
Tags
Red List (low evidence)
LIG3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: DNA Ligase III
Tags
Red List (low evidence)
LIG4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: Ligase
Tags
Red List (low evidence)
MAD2L2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: DNA pol zeta subunit
Tags
Red List (low evidence)
MBD4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:U or T opposite G at CpG sequences
Tags
Red List (low evidence)
MDC1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: Mediator of DNA damage checkpoint
Tags
Red List (low evidence)
MGMT
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Direct reversal of damage
  • Activity: O6-meG alkyltransferase
Tags
Red List (low evidence)
MLH1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs, forming heterodimer
Tags
Red List (low evidence)
MLH3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs of unknown function
Tags
Red List (low evidence)
MMS19
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Iron-sulfur cluster loading and transport
Tags
Red List (low evidence)
MNAT1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex.
Tags
Red List (low evidence)
MPG
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:3-meA, ethenoA, hypoxanthine
Tags
Red List (low evidence)
MPLKIP
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: non-photosensitive form of trichothiodystrophy
Tags
Red List (low evidence)
MRE11
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: 3' exonuclease, defective in ATLD (ataxia-telangiectasia-like disorder)
Tags
Red List (low evidence)
MSH2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition
Tags
Red List (low evidence)
MSH3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition
Tags
Red List (low evidence)
MSH4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutS homologs specialized for meiosis
Tags
Red List (low evidence)
MSH5
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutS homologs specialized for meiosis
Tags
Red List (low evidence)
MSH6
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition
Tags
Red List (low evidence)
MUS81
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Subunits of structure-specific DNA nuclease
Tags
Red List (low evidence)
MUTYH
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:A opposite 8-oxoG
Tags
Red List (low evidence)
NABP2
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: Single-stranded DNA binding protein
Tags
Red List (low evidence)
NBN
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Mutated in Nijmegen breakage syndrome
Tags
Red List (low evidence)
NEIL1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:Removes thymine glycol
Tags
Red List (low evidence)
NEIL2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:Removes oxidative products of pyrimidines
Tags
Red List (low evidence)
NEIL3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:Removes oxidative products of pyrimidines
Tags
Red List (low evidence)
NHEJ1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: End-joining factor
Tags
Red List (low evidence)
NTHL1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:Ring-saturated or fragmented pyrimidines
Tags
Red List (low evidence)
NUDT1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Modulation of nucleotide pools
  • Activity: 8-oxoGTPase
Tags
Red List (low evidence)
OGG1
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:8-oxoG opposite C
Tags
Red List (low evidence)
PALB2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: co-localizes with BRCA2 (FANCD1)
Tags
Red List (low evidence)
PARP1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA
  • Activity: Protects strand interruptions
Tags
Red List (low evidence)
PARP2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA
  • Activity: PARP-like enzyme
Tags
Red List (low evidence)
PARP3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA
  • Activity: PARP-like enzyme
Tags
Red List (low evidence)
PCNA
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Sliding clamp for pol delta and pol epsilon
Tags
Red List (low evidence)
PER1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: S-phase check point and biological clock protein
Tags
Red List (low evidence)
PMS1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs of unknown function
Tags
Red List (low evidence)
PMS2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs, forming heterodimer
Tags
Red List (low evidence)
PMS2P3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs of unknown function
Tags
Red List (low evidence)
PNKP
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: Converts some DNA breaks to ligatable ends
Tags
Red List (low evidence)
POLB
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: BER in nuclear DNA
Tags
Red List (low evidence)
POLD1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: NER and MMR
Tags
Red List (low evidence)
POLE
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: NER and MMR
Tags
Red List (low evidence)
POLG
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: BER in mitochondrial DNA
Tags
Red List (low evidence)
POLH
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: xeroderma pigmentosum (XP) variant
Tags
Red List (low evidence)
POLI
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Lesion bypass
Tags
Red List (low evidence)
POLK
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Lesion bypass and NER
Tags
Red List (low evidence)
POLL
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Gap-filling during non-homologous end-joining
Tags
Red List (low evidence)
POLM
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Gap filling during non-homologous end-joining
Tags
Red List (low evidence)
POLN
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: DNA crosslink repair?
Tags
Red List (low evidence)
POLQ
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Sensitivity to ionizing radiation
Tags
Red List (low evidence)
PRKDC
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: DNA-dependent protein kinase catalytic subunit
Tags
Red List (low evidence)
PRPF19
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA crosslink repair
  • binding to SETMAR
Tags
Red List (low evidence)
RAD1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: subunits of PCNA-like sensor of damaged DNA
Tags
Red List (low evidence)
RAD17
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: RFC-like DNA damage sensor
Tags
Red List (low evidence)
RAD18
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase
Tags
Red List (low evidence)
RAD23A
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Substitutes for RAD23B
Tags
Red List (low evidence)
RAD23B
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA distortions
Tags
Red List (low evidence)
RAD50
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: ATPase in complex with MRE11A, NBS1
Tags
Red List (low evidence)
RAD51
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Homologous pairing
Tags
Red List (low evidence)
RAD51B
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Rad51 homolog
Tags
Red List (low evidence)
RAD51C
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: Rad51 homolog FANCO
Tags
Red List (low evidence)
RAD51D
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Rad51 homolog
Tags
Red List (low evidence)
RAD52
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Accessory factors for recombination
Tags
Red List (low evidence)
RAD54B
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Accessory factors for recombination
Tags
Red List (low evidence)
RAD54L
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Accessory factors for recombination
Tags
Red List (low evidence)
RAD9A
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: subunits of PCNA-like sensor of damaged DNA
Tags
Red List (low evidence)
RBBP8
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Promotes DNA end resection
Tags
Red List (low evidence)
RDM1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: Similar to RAD52
Tags
Red List (low evidence)
RECQL
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA helicase
Tags
Red List (low evidence)
RECQL4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: Rothmund-Thompson syndrome
Tags
Red List (low evidence)
RECQL5
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA helicase
Tags
Red List (low evidence)
REV1
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: dCMP transferase
Tags
Red List (low evidence)
REV3L
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: DNA pol zeta catalytic subunit, essential function
Tags
Red List (low evidence)
RIF1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: suppressor of 5'-end-resection
Tags
Red List (low evidence)
RNF168
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase for DSB repair
  • ATM-like and RIDDLE syndrome
Tags
Red List (low evidence)
RNF4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase
Tags
Red List (low evidence)
RNF8
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase for DSB repair
Tags
Red List (low evidence)
RPA1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA in preincision complex
Tags
Red List (low evidence)
RPA2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA in preincision complex
Tags
Red List (low evidence)
RPA3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA in preincision complex
Tags
Red List (low evidence)
RPA4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: Similar to RPA2
Tags
Red List (low evidence)
RRM2B
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Modulation of nucleotide pools
  • Activity: p53-inducible ribonucleotide reductase small subunit 2 homolog
Tags
Red List (low evidence)
SEM1
1 review
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: BRCA2 associated
Tags
Red List (low evidence)
SETMAR
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Chromatin Structure and Modification
  • Activity: DNA damage-associated histone methylase and nuclease
Tags
Red List (low evidence)
SHPRH
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase, SWI/SNF related, homolog of S. cerevisiae Rad5
Tags
Red List (low evidence)
SLX1A
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome
Tags
Red List (low evidence)
SLX1B
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome
Tags
Red List (low evidence)
SLX4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: nuclease subunit/scaffold BTBD12 (SLX4) FANCP
Tags
Red List (low evidence)
SMUG1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:U
Tags
Red List (low evidence)
SPO11
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: endonuclease
Tags
Red List (low evidence)
SPRTN
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Reads ubiquitylation
Tags
Red List (low evidence)
TDG
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:U, T or ethenoC opposite G
Tags
Red List (low evidence)
TDP1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Repair of DNA-topoisomerase crosslinks
  • Activity: Removes 3'-tyrosylphosphate and 3'-phosphoglycolate from DNA
  • human disorder SCAN1
Tags
Red List (low evidence)
TDP2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Repair of DNA-topoisomerase crosslinks
  • Activity: 5'- and 3'-tyrosyl DNA phosphodiesterase
Tags
Red List (low evidence)
TOPBP1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: DNA damage checkpoint control
Tags
Red List (low evidence)
TP53
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: Regulation of the cell cycle
Tags
Red List (low evidence)
TP53BP1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: chromatin-binding checkpoint protein
Tags
Red List (low evidence)
TREX1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 3' exonuclease
Tags
Red List (low evidence)
TREX2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 3' exonuclease
Tags
Red List (low evidence)
UBE2A
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Ubiquitin-conjugating enzyme
Tags
Red List (low evidence)
UBE2B
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Ubiquitin-conjugating enzyme
Tags
Red List (low evidence)
UBE2N
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Ubiquitin-conjugating complex
Tags
Red List (low evidence)
UBE2V2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Ubiquitin-conjugating complex
Tags
Red List (low evidence)
UNG
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:U
Tags
Red List (low evidence)
UVSSA
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 4p16.3
Tags
Red List (low evidence)
WRN
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: Werner syndrome helicase / 3' - exonuclease
Tags
Red List (low evidence)
XAB2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: XAB2
Tags
Red List (low evidence)
XPA
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds damaged DNA in preincision complex
Tags
Red List (low evidence)
XPC
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA distortions
Tags
Red List (low evidence)
XRCC1
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: LIG3 accessory factor
Tags
Red List (low evidence)
XRCC2
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: DNA break and crosslink repair
Tags
Red List (low evidence)
XRCC3
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: DNA break and crosslink repair
Tags
Red List (low evidence)
XRCC4
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: Ligase accessory factor
Tags
Red List (low evidence)
XRCC5
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: DNA end binding subunit
Tags
Red List (low evidence)
XRCC6
0 reviews
Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: DNA end binding subunit
Tags

Major version comments

  • 2018-09-07 12:24 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
    This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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