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 ABCB7 gene ABCB7 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310 False 2 0;0;100 0.335 False ENSG00000131269 ENSG00000131269 HGNC:48 BAAT gene BAAT Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial, 607748;Hypercholanemia False 2 0;0;100 0.335 False ENSG00000136881 ENSG00000136881 HGNC:932 COX4I2 gene COX4I2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 False 2 0;0;100 0.335 False ENSG00000131055 ENSG00000131055 HGNC:16232 HOXD13 gene HOXD13 Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Synpolydactyly, type II, 186000 False 2 100;0;0 0.335 False ENSG00000128714 ENSG00000128714 HGNC:5136 PUS1 gene PUS1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Myopathy, Lactic Acidosis, and Sideroblastic Anemia;Mitochondrialmyopathyandsideroblasticanemia1,600462 False 2 0;100;0 0.335 False ENSG00000177192 ENSG00000177192 HGNC:15508 RAD51C gene RAD51C Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, 613390 20400963;22167183 False 2 100;0;0 0.335 False ENSG00000108384 ENSG00000108384 HGNC:9820 TERT gene TERT Illumina TruGenome Clinical Sequencing Services;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Aplastic Anemia False 2 100;0;0 0.335 False ENSG00000164362 ENSG00000164362 HGNC:11730 XRCC2 gene XRCC2 Expert Review Amber;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anaemia J Med Genet. 2012 Mar 49(3):184-6 PMID: 22232082;27760710;27208205;22464251;22232082 False 2 100;0;0 0.335 False ENSG00000196584 ENSG00000196584 HGNC:12829 YARS2 gene YARS2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Myopathy,lacticacidosis,andsideroblasticanemia2,613561 False 2 100;0;0 0.335 False ENSG00000139131 ENSG00000139131 HGNC:24249 ZIC3 gene ZIC3 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) VACTERL Association, X-linked;Heterotaxy, visceral, 1, X-linked 306955 False 2 0;0;0 0.335 False ENSG00000156925 ENSG00000156925 HGNC:12874