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 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