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 ALAS2 gene ALAS2 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN 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) Anemia, sideroblastic, X-linked, 300751;Sideroblastic Anemia and Ataxia;Sideroblastic anaemia 10029606;12531813;7560104;1570328;11110715 False 3 100;0;0 0.335 True ENSG00000158578 ENSG00000158578 HGNC:397 BRCA2 gene BRCA2 Expert list;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 D1, 605724 12065746;16825431 False 3 100;0;0 0.335 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;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 J, 609054 16116424;16116423 False 3 100;0;0 0.335 False ENSG00000136492 ENSG00000136492 HGNC:20473 CDAN1 gene CDAN1 Eligibility statement prior genetic testing;Expert Review Green;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 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ia, 224120 12434312;16141353;18824595 False 3 100;0;0 0.335 True ENSG00000140326 ENSG00000140326 HGNC:1713 CUBN gene CUBN Expert Review Green;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 Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia 12590260;15024727;17285242 False 3 100;0;0 0.335 True ENSG00000107611 ENSG00000107611 HGNC:2548 ERCC4 gene ERCC4 Expert Review Green;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 Q, 615272;Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 23623386;23623389 False 3 100;0;0 0.335 False ENSG00000175595 ENSG00000175595 HGNC:3436 FANCA gene FANCA Expert list;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;Fanconi anemia, complementation group A, 227650;Fanconi anemia False 3 100;0;0 0.335 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN 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 Fanconi anemia;Fanconi anemia, complementation group B, 300514;Fanconi Anemia, X-Linked;VACTERL Association with Hydrocephalus False 3 100;0;0 0.335 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert list;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;Fanconi anemia, complementation group C, 227645;Fanconi anemia False 3 100;0;0 0.335 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert list;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;Fanconi anemia, complementation group D2, 227646;Fanconi anemia False 3 100;0;0 0.335 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert list;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;Fanconi anemia, complementation group E, 600901;Fanconi anemia False 3 100;0;0 0.335 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert list;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;Fanconi anemia, complementation group F, 603467;Fanconi anemia False 3 100;0;0 0.335 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert list;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;Fanconi anemia, complementation group G, 614082;Fanconi anemia False 3 100;0;0 0.335 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert list;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;Fanconi anemia, complementation group I, 609053;Fanconi anemia False 3 100;0;0 0.335 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert list;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;Fanconi anemia, complementation group L, 614083;Fanconi anemia False 3 100;0;0 0.335 False ENSG00000115392 ENSG00000115392 HGNC:20748 G6PD gene G6PD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN 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) Hemolytic anemia due to G6PD deficiency, 300908;congenital nonspherocytic hemolytic anemia;nonspherocytic hemolytic anemia due to G6PD deficiency;Favism, 134700 10666231 False 3 100;0;0 0.335 True ENSG00000160211 ENSG00000160211 HGNC:4057 GATA1 gene GATA1 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835;Thrombocytopenia with beta-thalassemia, X-linked, 314050 (includes variable Hemolytic anemia);Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 24766296;24952648;24453067 False 3 100;0;0 0.335 True ENSG00000102145 ENSG00000102145 HGNC:4170 KLF1 gene KLF1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673 28265383 False 3 100;0;0 0.335 True ENSG00000105610 ENSG00000105610 HGNC:6345 PALB2 gene PALB2 Expert list;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 N, 610832 False 3 100;0;0 0.335 False ENSG00000083093 ENSG00000083093 HGNC:26144 RPL11 gene RPL11 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia;Diamond-Blackfan anemia 7, 612562;Diamond Blackfan anemia False 3 100;0;0 0.335 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL35A gene RPL35A Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia;Diamond-Blackfan anemia 5, 612528;Diamond Blackfan anemia False 3 100;0;0 0.335 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia;Diamond-Blackfan anemia 6, 612561;Diamond Blackfan anemia False 3 100;0;0 0.335 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia;Diamond-Blackfan anemia 9, 613308;Diamond Blackfan anemia False 3 100;0;0 0.335 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 4, 612527;Diamond Blackfan anemia False 3 100;0;0 0.335 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;Diamond Blackfan anemia False 3 100;0;0 0.335 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia;Diamond-blackfan anemia 3, 610629 False 3 100;0;0 0.335 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia;Diamond-Blackfan anemia 10, 613309;Diamond Blackfan anemia False 3 100;0;0 0.335 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia;Diamond-Blackfan anemia 8, 612563;Diamond Blackfan anemia 23718193;19061985;27882484;25946618 False 3 100;0;0 0.335 True ENSG00000171863 ENSG00000171863 HGNC:10440 SEC23B gene SEC23B Emory Genetics Laboratory;Expert Review Green;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 Congenital dyserythropoietic anemia type II;Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type II, 224100 False 3 100;0;0 0.335 True ENSG00000101310 ENSG00000101310 HGNC:10702 SLC11A2 gene SLC11A2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypochromic Microcytic Anemia with Iron Overload;Anemia, hypochromic microcytic, with iron overload 1, 206100;Microcytic anemia and hepatic iron overload 15459009;16160008;16439678 False 3 100;0;0 0.335 True ENSG00000110911 ENSG00000110911 HGNC:10908 SLC19A2 gene SLC19A2 Expert Review Green;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 Thiamine-responsive megaloblastic anemia syndrome, 249270 10978358;10391223;11380424;10874303 False 3 100;0;0 0.335 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC25A38 gene SLC25A38 Eligibility statement prior genetic testing;Expert Review Green;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 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950;Hereditary Sideroblastic Anemia;Sideroblastic anaemia False 3 100;0;0 0.335 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLX4 gene SLX4 Expert list;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;Fanconi anemia, complementation group P, 613951 False 3 100;0;0 0.335 False ENSG00000188827 ENSG00000188827 HGNC:23845 TMPRSS6 gene TMPRSS6 Expert Review Green;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 Iron-refractory iron deficiency anemia, 206200 False 3 100;0;0 0.335 True ENSG00000187045 ENSG00000187045 HGNC:16517