Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name CARS gene CARS Expert list;Expert Review Green;NHS GMS Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891 30824121 False 3 100;0;0 3.7 False ENSG00000110619 ENSG00000110619 HGNC:1493 DDB2 gene DDB2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 False 3 100;0;0 3.7 False ENSG00000134574 ENSG00000134574 HGNC:2718 ERCC1 gene ERCC1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum, MONDO:0019600;hepatorenal syndrome, MONDO:0001382 23623389;17273966;40684071 False 3 50;50;0 3.7 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group D, 278730;Trichothiodystrophy, 601675 False 3 100;0;0 3.7 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B, 610651; Trichothiodystrophy, 601675 False 3 100;0;0 3.7 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group F, 278760;Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 False 3 100;0;0 3.7 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G, 278780;Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 False 3 100;0;0 3.7 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B;Cockayne syndrome phenotype and UV-sensitive syndrome;PMID: 26204423;Cockayne syndrome B;De Sanctis-Cacchione syndrome;UV-sensitive syndrome 1 26204423;26749132 False 3 100;0;0 3.7 False Other - please provide details in the comments ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A;Cockayne syndrome phenotype and UV-sensitive syndrome;PMID: 26204423 26204423 False 3 100;0;0 3.7 False Other - please provide details in the comments ENSG00000049167 ENSG00000049167 HGNC:3439 GTF2E2 gene GTF2E2 Expert Review Green;NHS GMS;Other Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 26996949;28973399 False 3 100;0;0 3.7 False ENSG00000197265 ENSG00000197265 HGNC:4651 GTF2H5 gene GTF2H5 Expert Review Green;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive;Photosensitive trichothiodystrophy 3 False 3 100;0;0 3.7 False ENSG00000272047 ENSG00000272047 HGNC:21157 MPLKIP gene MPLKIP Expert Review Green;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Non-photosensitive trichothiodystrophy 4 False 3 0;0;100 3.7 False ENSG00000168303 ENSG00000168303 HGNC:16002 POLH gene POLH Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, OMIM:278750 27664908;27004399;25256075;25128761;24877075;24260050;24130121;23755135;23651273 False 3 100;0;0 3.7 False ENSG00000170734 ENSG00000170734 HGNC:9181 RNF113A gene RNF113A Expert Review Green;NHS GMS;Other Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 19377476;25612912;31793730;31880405;32152280 False 3 100;0;0 3.7 False ENSG00000125352 ENSG00000125352 HGNC:12974 XPA gene XPA Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, 278700 27603812;27413738;26743599;26302748 False 3 100;0;0 3.7 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Dermatology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, 278720 27413738 False 3 100;0;0 3.7 False ENSG00000154767 ENSG00000154767 HGNC:12816