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 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 AK1 gene AK1 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Hemolytic anemia due to adenylate kinase deficiency, 612631 False 1 0;100;0 0.335 False ENSG00000106992 ENSG00000106992 HGNC:361 AMN gene AMN Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Megaloblastic anemia-1, Norwegian type, 261100 False 1 100;0;0 0.335 False ENSG00000166126 ENSG00000166126 HGNC:14604 ARHGAP31 gene ARHGAP31 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000031081 ENSG00000031081 HGNC:29216 BMP2 gene BMP2 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMPR1B gene BMPR1B Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000138696 ENSG00000138696 HGNC:1077 BRCA1 gene BRCA1 Expert Review Red;Literature Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Sawyer et al (2014) ""Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype"". Cancer Discov 5 (2): 135 42" False 1 0;0;100 0.335 False ENSG00000012048 ENSG00000012048 HGNC:1100 C15orf41 gene C15orf41 Eligibility statement prior genetic testing;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Congenital Anaemia;Congenital Dyserythropoietic Anemia False 1 0;100;0 0.335 False ENSG00000186073 ENSG00000186073 HGNC:26929 CC2D2A gene CC2D2A Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000048342 ENSG00000048342 HGNC:29253 CD59 gene CD59 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 False 1 100;0;0 0.335 False ENSG00000085063 ENSG00000085063 HGNC:1689 CDH3 gene CDH3 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000062038 ENSG00000062038 HGNC:1762 CEP290 gene CEP290 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000198707 ENSG00000198707 HGNC:29021 CHSY1 gene CHSY1 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000131873 ENSG00000131873 HGNC:17198 DHFR gene DHFR Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 False 1 100;0;0 0.335 False ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes DYSKERATOSIS CONGENITA, X-LINKED False 1 100;0;0 0.335 False ENSG00000130826 ENSG00000130826 HGNC:2890 EPHX1 gene EPHX1 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 False 1 0;0;100 0.335 False ENSG00000143819 ENSG00000143819 HGNC:3401 ERCC1 gene ERCC1 Other Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia 23623389 False 1 0;0;0 0.335 False ENSG00000012061 ENSG00000012061 HGNC:3433 ESCO2 gene ESCO2 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000171320 ENSG00000171320 HGNC:27230 FANCM gene FANCM Expert list;Expert Review Red;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 16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene;19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA;25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia. False 1 67;33;0 0.335 False ENSG00000187790 ENSG00000187790 HGNC:23168 FBLN1 gene FBLN1 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000077942 ENSG00000077942 HGNC:3600 FBXW4 gene FBXW4 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000107829 ENSG00000107829 HGNC:10847 FGF10 gene FGF10 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGFR2 gene FGFR2 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000068078 ENSG00000068078 HGNC:3690 FMN1 gene FMN1 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000248905 ENSG00000248905 HGNC:3768 GCLC gene GCLC Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450{Myocardial infarction, susceptibility to}, 608446 False 1 0;0;100 0.335 False ENSG00000001084 ENSG00000001084 HGNC:4311 GDF5 gene GDF5 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000125965 ENSG00000125965 HGNC:4220 GLI3 gene GLI3 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;100;0 0.335 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLRX5 gene GLRX5 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 False 1 0;0;100 0.335 False ENSG00000182512 ENSG00000182512 HGNC:20134 GNAS gene GNAS Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000087460 ENSG00000087460 HGNC:4392 GPI gene GPI Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 False 1 0;0;100 0.335 False ENSG00000105220 ENSG00000105220 HGNC:4458 GPX1 gene GPX1 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Hemolytic anemia due to glutathione peroxidase deficiency, 614164 False 1 0;0;100 0.335 False ENSG00000233276 ENSG00000233276 HGNC:4553 GREM1 gene GREM1 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000166923 ENSG00000166923 HGNC:2001 GSS gene GSS Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130 False 1 0;0;100 0.335 False ENSG00000100983 ENSG00000100983 HGNC:4624 HBA1 gene HBA1 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes 5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978 False 1 0;0;100 0.335 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978 False 1 0;0;100 0.335 False ENSG00000188536 ENSG00000188536 HGNC:4824 HBB gene HBB Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Sicklecellanemia,603903;Thalassemias,beta ,613985;Erythremias,beta; Methemoglobinemias,beta; Heinzbodyanemias,beta,140700;Thalassemia beta,dominant inclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162;Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162 False 1 0;0;100 0.335 False ENSG00000244734 ENSG00000244734 HGNC:4827 HBD gene HBD Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Thalassemia,delta ThalassemiaduetoHbLepore False 1 0;0;100 0.335 False ENSG00000223609 ENSG00000223609 HGNC:4829 HDAC4 gene HDAC4 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000068024 ENSG00000068024 HGNC:14063 HEPH gene HEPH UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Iron Deficiency anaemia. False 1 0;0;100 0.335 False ENSG00000089472 ENSG00000089472 HGNC:4866 HK1 gene HK1 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Hemolytic anemia due to hexokinase deficiency, 235700Neuropathy, hereditary motor and sensory, Russe type, 605285 False 1 0;0;100 0.335 False ENSG00000156515 ENSG00000156515 HGNC:4922 IFNG gene IFNG Illumina TruGenome Clinical Sequencing Services Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Aplastic Anemia False 1 0;0;100 0.335 False ENSG00000111537 ENSG00000111537 HGNC:5438 IHH gene IHH Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000163501 ENSG00000163501 HGNC:5956 KIF23 gene KIF23 UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes DYSERYTHOPOIETIC ANEMIA, CONGENITAL, TYPE III CDA III False 1 0;0;100 0.335 False ENSG00000137807 ENSG00000137807 HGNC:6392 KIF7 gene KIF7 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000166813 ENSG00000166813 HGNC:30497 LMBR1 gene LMBR1 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000105983 ENSG00000105983 HGNC:13243 LRP4 gene LRP4 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000134569 ENSG00000134569 HGNC:6696 MGP gene MGP Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000111341 ENSG00000111341 HGNC:7060 MKS1 gene MKS1 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000011143 ENSG00000011143 HGNC:7121 MTR gene MTR Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634 False 1 0;0;100 0.335 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634 False 1 0;0;100 0.335 False ENSG00000124275 ENSG00000124275 HGNC:7473 MYCN gene MYCN Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000134323 ENSG00000134323 HGNC:7559 NHP2 gene NHP2 UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 False 1 0;0;100 0.335 False ENSG00000145912 ENSG00000145912 HGNC:14377 NIPBL gene NIPBL Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOG gene NOG Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOP10 gene NOP10 UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 False 1 0;0;0 0.335 False ENSG00000182117 ENSG00000182117 HGNC:14378 NT5C3A gene NT5C3A UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes False 1 0;0;0 0.335 False ENSG00000122643 ENSG00000122643 HGNC:17820 PIGV gene PIGV Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000060642 ENSG00000060642 HGNC:26031 PITX1 gene PITX1 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000069011 ENSG00000069011 HGNC:9004 PKLR gene PKLR UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes False 1 0;100;0 0.335 False ENSG00000143627 ENSG00000143627 HGNC:9020 PTEN gene PTEN Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174;{Glioma susceptibility 2}, 613028;Macrocephaly/autism syndrome, 605309;PTEN hamartoma tumor syndrome;VATER association with macrocephaly and ventriculomegaly, 276950;{Prostate cancer, somatic}, 176807;Thyroid carcinoma, follicular, somatic, 188470;Malignant melanoma, somatic, 155600;Endometrial carcinoma, somatic, 608089;Squamous cell carcinoma, head and neck, somatic, 275355 False 1 0;0;100 0.335 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTHLH gene PTHLH Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;100;0 0.335 False ENSG00000087494 ENSG00000087494 HGNC:9607 RECQL4 gene RECQL4 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000160957 ENSG00000160957 HGNC:9949 RHAG gene RHAG Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome False 1 0;100;0 0.335 False ENSG00000112077 ENSG00000112077 HGNC:10006 ROR2 gene ROR2 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;100;0 0.335 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;100;0 0.335 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL19 gene RPL19 UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes False 1 0;100;0 0.335 False ENSG00000108298 ENSG00000108298 HGNC:10312 RPL26 gene RPL26 Expert list;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Diamond Blackfan anemia False 1 0;100;0 0.335 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL27 gene RPL27 Expert Review Red;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Diamond-Blackfan anemia 16, 617408 False 1 0;100;0 0.335 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL9 gene RPL9 UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes False 1 0;100;0 0.335 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS14 gene RPS14 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3 False 1 0;100;0 0.335 False ENSG00000164587 ENSG00000164587 HGNC:10387 RPS27 gene RPS27 Expert Review Red;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes ?Diamond-Blackfan anemia 17, 617409 False 1 0;100;0 0.335 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS29 gene RPS29 Expert list;UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Diamond Blackfan anemia False 1 100;0;0 0.335 False ENSG00000213741 ENSG00000213741 HGNC:10419 SALL1 gene SALL1 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000101115 ENSG00000101115 HGNC:15924 SBDS gene SBDS UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes False 1 100;0;0 0.335 False ENSG00000126524 ENSG00000126524 HGNC:19440 SHH gene SHH Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000164690 ENSG00000164690 HGNC:10848 SLC4A1 gene SLC4A1 Illumina TruGenome Clinical Sequencing Services Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hemolytic Anemia False 1 0;0;100 0.335 False ENSG00000004939 ENSG00000004939 HGNC:11027 SOX9 gene SOX9 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;0;100 0.335 False ENSG00000125398 ENSG00000125398 HGNC:11204 TBX15 gene TBX15 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000092607 ENSG00000092607 HGNC:11594 TBX3 gene TBX3 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX5 gene TBX5 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000089225 ENSG00000089225 HGNC:11604 TERC gene TERC UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes False 1 100;0;0 0.335 False ENSG00000270141 ENSG00000270141 HGNC:11727 TF gene TF UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal False 1 0;100;0 0.335 False ENSG00000091513 ENSG00000091513 HGNC:11740 THPO gene THPO Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 0;100;0 0.335 False ENSG00000090534 ENSG00000090534 HGNC:11795 TINF2 gene TINF2 UKGTN Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes False 1 100;0;0 0.335 False ENSG00000092330 ENSG00000092330 HGNC:11824 TP63 gene TP63 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000073282 ENSG00000073282 HGNC:15979 TPI1 gene TPI1 Radboud University Medical Center, Nijmegen Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Hemolytic anemia due to triosephosphate isomerase deficiency False 1 0;0;100 0.335 False ENSG00000111669 ENSG00000111669 HGNC:12009 WNT3 gene WNT3 Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000108379 ENSG00000108379 HGNC:12782 WNT7A gene WNT7A Emory Genetics Laboratory Non-Fanconi anaemia DNA repair disorders Dysmorphic and congenital abnormality syndromes Limb Malformation False 1 100;0;0 0.335 False ENSG00000154764 ENSG00000154764 HGNC:12786