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 ERCC6 gene ERCC6 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Cockayne syndrome DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B;Cockayne syndrome phenotype and UV-sensitive syndrome;PMID: 26204423 26204423;26749132 False 3 100;0;0 0.30 True 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 Cockayne syndrome DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A;Cockayne syndrome phenotype and UV-sensitive syndrome;PMID: 26204423 26204423 False 3 100;0;0 0.30 True Other - please provide details in the comments ENSG00000049167 ENSG00000049167 HGNC:3439 ERCC4 gene ERCC4 Radboud University Medical Center, Nijmegen Cockayne syndrome DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, type F Cockayne syndrome, 278760 False 1 0;0;0 0.30 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Radboud University Medical Center, Nijmegen Cockayne syndrome DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G Cockayne syndrome, 278780 False 1 0;0;0 0.30 False ENSG00000134899 ENSG00000134899 HGNC:3437