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 ACP4 gene ACP4 Expert Review Green;Other Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta 28513613; 27843125 False 3 100;0;0 4.30 False ENSG00000142513 ENSG00000142513 HGNC:14376 AMBN gene AMBN Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen Amelogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amelogenesis imperfecta, type IF, OMIM:616270 24858907;26502894;30174330;31402633;38058155 False 3 100;0;0 4.30 False ENSG00000178522 ENSG00000178522 HGNC:452 AMELX gene AMELX Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Amelogenesis imperfecta, type 1E, 301200;iX-linked hypoplastic amelogenesis imperfecta;hypomaturation AI with variable hypoplastic foci;smooth hypoplastic AI 19610109;23251683;15111628;7782077;1916828;25117480;7599636;1483698;17189466;9188994;11922869;11839357;7599636;22243263;11201048;26502894;28130977;8406474 False 3 100;0;0 4.30 False ENSG00000125363 ENSG00000125363 HGNC:461 C4orf26 gene C4orf26 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA4, 614832;Amelogenesis Imperfecta, Type IIA4, 614832;hypomineralized amelogenesis imperfecta 27558265;22901946 False 3 100;0;0 4.30 False ENSG00000174792 ENSG00000174792 HGNC:26300 CNNM4 gene CNNM4 Emory Genetics Laboratory;Expert Review Green;Other Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Jalili syndrome, 217080 (includes amelogenesis imperfecta);cone-rod dystrophy and amelogenesis imperfecta False 3 100;0;0 4.30 False ENSG00000158158 ENSG00000158158 HGNC:105 COL17A1 gene COL17A1 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Amelogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 (includes enamel pitting);Hypoplastic amelogenesis imperfecta 16820943;27558265;26502894;8669466 False 3 100;0;0 4.30 False ENSG00000065618 ENSG00000065618 HGNC:2194 DLX3 gene DLX3 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amelogenesis imperfecta, type IV, 104510;Amelogenesis Imperfecta, Type IV, 104510;Amelogenesis Imperfecta, Dominant;amelogenesis imperfecta with taurodontism;Trichodontoosseous syndrome, 190320;Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia);hypoplastic AI, taurodontism and kinky hair;Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic 21252474;20151948;26104267;15666299;9467018;23949819 False 3 100;0;0 4.30 False ENSG00000064195 ENSG00000064195 HGNC:2916 ENAM gene ENAM Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amelogenesis imperfecta, type IB, 104500;Amelogenesis imperfecta, type IC, 204650;Amelogenesis Imperfecta, Dominant;autosomal recessive amelogenesis imperfecta 22029166;22540999;11978766;15723871;25143514;11487571;21597265;17316551;12407086;20439930;16246937;14684688;19329462;25769099;26502894;28334996 False 3 100;0;0 4.30 False ENSG00000132464 ENSG00000132464 HGNC:3344 FAM20A gene FAM20A Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690;Amelogenesis Imperfecta, Type IG, 204690;Hypomieralised AI 21990045;24756937;23697977;23434854;24259279;24196488;21549343;23468644;26502894;25827751 False 3 100;0;0 4.30 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM20C gene FAM20C Eligibility statement prior genetic testing;Expert Review Green;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Raine Syndrome, 259775;hypoplastic Amelogenesis Imperfecta 25928877;17924334;24039075;24458843;19250384;23325605;20825432;24982027;20453638;27667191;27862258 False 3 100;0;0 4.30 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM83H gene FAM83H Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amelogenesis imperfecta, type III, 130900;Amelogenesis Imperfecta, Type III, 130900;Hypocalcified AI 20160442;19407157;18484629;21702852;19407157;22414746;18252228;21597265;19828885;19825039;19220331;26788537;21118793;26502894;26171361;26481691;26142250 False 3 100;0;0 4.30 False Other - please provide details in the comments ENSG00000180921 ENSG00000180921 HGNC:24797 GPR68 gene GPR68 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 27693231 False 3 100;0;0 4.30 False ENSG00000119714 ENSG00000119714 HGNC:4519 ITGB6 gene ITGB6 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221;Amelogenesis imperfecta, type IH, 616221 24305999;25431241;24319098;26695873 False 3 100;0;0 4.30 False ENSG00000115221 ENSG00000115221 HGNC:6161 KLK4 gene KLK4 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA1, 204700;Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700 15235027;23355523;26124219;28611678 False 3 100;0;0 4.30 False ENSG00000167749 ENSG00000167749 HGNC:6365 LAMA3 gene LAMA3 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Amelogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Amelogenesis imperfecta, hypoplastic type;Epidermolysis bullosa, generalized atrophic benign 226650;Epidermolysis bullosa, junctional, Herlitz type 226700;Laryngoonychocutaneous syndrome 245660 22434185;26502894;27827380 False 3 100;0;0 4.30 False ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB3 gene LAMB3 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Amelogenesis imperfecta, type IA, 104530;Amelogenesis Imperfecta, Type IA, 104530;Epidermolysis bullosa, junctional, Herlitz type, 26700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650 24494736;23632796;23958762;25769099;7706760;26502894;27220909 False 3 100;0;0 4.30 False Other - please provide details in the comments ENSG00000196878 ENSG00000196878 HGNC:6490 LTBP3 gene LTBP3 Eligibility statement prior genetic testing;Expert Review Green;Other;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Dental anomalies and short stature, OMIM:601216 25669657;28084688;25899461;19344874 False 3 100;0;0 4.30 False ENSG00000168056 ENSG00000168056 HGNC:6716 MMP20 gene MMP20 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA2, 612529;Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529;Amelogenesis Imperfecta, Recessive 28473773;15744043;18096894;26502894;23625376;23355523;16246936;19966041;26124219;28659819 False 3 100;0;0 4.30 False ENSG00000137674 ENSG00000137674 HGNC:7167 ORAI1 gene ORAI1 Expert Review Green;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9, 612782 20004786;26469693;16582901 False 3 100;0;0 4.30 False ENSG00000182500 ENSG00000276045 HGNC:25896 PEX1 gene PEX1 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta);hypomineralized amelogenesis imperfecta;amelogenesis imperfecta;Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539;Peroxisome biogenesis disorder 1A (Zellweger), 214100 27302843;26387595;27633571 False 3 100;0;0 4.30 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX26 gene PEX26 Expert Review;Expert Review Green;Literature;NHS GMS Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis Imperfecta, MONDO:0019507;Heimler syndrome 28944237;33926089 False 3 100;0;0 4.30 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX6 gene PEX6 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Amelogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta);Peroxisome biogenesis disorder 4A (Zellweger), 614862;Peroxisome biogenesis disorder 4B, 614863 27302843;26387595;16530715;29220678 False 3 100;0;0 4.30 False ENSG00000124587 ENSG00000124587 HGNC:8859 PLXNB2 gene PLXNB2 Expert Review;Expert Review Green;Literature;NHS GMS Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta, MONDO:0019507;sensorineural hearing loss disorder, MONDO:0020678;intellectual disability, MONDO:0001071 38458752 False 3 100;0;0 4.30 False ENSG00000196576 ENSG00000196576 HGNC:9104 RELT gene RELT Expert Review Green;Literature Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta (hypoplastic);Amelogenesis imperfecta, type IIIC, 618386 30506946 False 3 100;0;0 4.30 False ENSG00000054967 ENSG00000054967 HGNC:13764 ROGDI gene ROGDI Expert Review Green;Other Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome, 226750; Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 3236364;23086778;25565929;22424600;22482807;28651123 False 3 100;0;0 4.30 False ENSG00000067836 ENSG00000067836 HGNC:29478 SLC10A7 gene SLC10A7 Expert Review Green;Literature Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal skeletal dysplasia and amelogenesis imperfecta;Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363;short stature;amelogenesis imperfect hypo mineralised;skeletal dysplasia;scoliosis 30082715;29878199 False 3 100;0;0 4.30 False ENSG00000120519 ENSG00000120519 HGNC:23088 SLC13A5 gene SLC13A5 Expert Review Green;Literature Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Kohlsch tter-T nz syndrome(KTZS);hypoplastic amelogenesis imperfecta;Epileptic encephalopathy, early infantile, 25 615905 27600704;26384929;24995870;27261973 False 3 100;0;0 4.30 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC24A4 gene SLC24A4 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta (non-syndromic form);Amelogenesis imperfecta, type IIA5, 615887;hypomaturation/hypomineralised amelogenesis imperfecta 24621671;23375655;25442250;24532815;26502894;27129268 False 3 100;0;0 4.30 False ENSG00000140090 ENSG00000140090 HGNC:10978 SP6 gene SP6 Expert Review Green;Literature;NHS GMS Amelogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amelogenesis Imperfecta, MONDO:0019507 32167558;18156176;18297738;22676574;33652941 False 3 100;0;0 4.30 False ENSG00000189120 ENSG00000189120 HGNC:14530 STIM1 gene STIM1 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10, 612783 28732182;24621671;26560041;19420366;22190180 False 3 100;0;0 4.30 False ENSG00000167323 ENSG00000167323 HGNC:11386 WDR72 gene WDR72 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA3, 613211;Amelogenesis Imperfecta, Type IIA3, 613211;Amelogenesis Imperfecta, Recessive;Hypomaturation AI 25008349;23293580;20938048;19853237;21196691;26502894;27259663 False 3 100;0;0 4.30 False ENSG00000166415 ENSG00000166415 HGNC:26790 AIRE gene AIRE Expert Review Amber;Literature Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300;autoimmune polyendocrine syndrome type 1, MONDO:0009411;amelogenesis imperfecta, MONDO:0019507 19393987;27253668;31905445;35521792;37993717;37235056 False 2 100;0;0 4.30 False ENSG00000160224 ENSG00000160224 HGNC:360 ALPL gene ALPL Expert Review;Expert Review Amber;Literature Amelogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Odontohypophosphatasia, OMIM:146300;hypophosphatasia, MONDO:0018570 19500388;32758526;34164522;36101824;39872235;39983296 False 2 100;0;0 4.30 False ENSG00000162551 ENSG00000162551 HGNC:438 AMTN gene AMTN Expert Review Amber;Literature Amelogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amelogenesis imperfecta;dominant hypomineralised AI;Amelogenesis imperfecta, hypomaturation type;?Amelogenesis imperfecta, type IIIB, 617607" 27412008 False 2 0;0;100 4.30 False ENSG00000187689 ENSG00000187689 HGNC:33188 CLDN16 gene CLDN16 Expert Review Amber;Literature Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis, MONDO:0017624;amelogenesis imperfecta, MONDO:0019507 26426912;32710267 False 2 100;0;0 4.30 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Amber;Literature Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) 27530400 False 2 0;0;0 4.30 False ENSG00000164007 ENSG00000164007 HGNC:2040 ITGB4 gene ITGB4 Eligibility statement prior genetic testing;Expert Review Amber;UKGTN Amelogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amelogenesis Imperfecta;Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia);Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting) False 2 0;0;0 4.30 False ENSG00000132470 ENSG00000132470 HGNC:6158 LAMC2 gene LAMC2 Eligibility statement prior genetic testing;Expert Review Amber;UKGTN Amelogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown amelogenesis imperfecta, MONDO:0019507 26956061;37228816 False 2 0;100;0 4.30 False ENSG00000058085 ENSG00000058085 HGNC:6493 NECTIN4 gene NECTIN4 Expert Review Amber;Literature Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573;ectodermal dysplasia-syndactyly syndrome 1, MONDO:0024565;amelogenesis imperfecta, MONDO:0019507 20691405;21346770;34067522;37183149;37829154 False 2 100;0;0 4.30 False ENSG00000143217 ENSG00000143217 HGNC:19688 SMARCD2 gene SMARCD2 Expert Review Amber;Other Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency 2, OMIM:617475 28369036;33025377;33279574;36135322 False 2 0;100;0 4.30 False ENSG00000108604 ENSG00000108604 HGNC:11107 TP63 gene TP63 Expert Review Amber;Literature Amelogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292;ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, MONDO:0011428 10227293;22065540;31050217;33126320 False 2 100;0;0 4.30 False ENSG00000073282 ENSG00000073282 HGNC:15979 KCNJ1 gene KCNJ1 Literature Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, 241200; Amelogenesis Imperfecta 23341834 False 1 0;0;0 4.30 False ENSG00000151704 ENSG00000151704 HGNC:6255 TMEM165 gene TMEM165 Other Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta 22683087 False 1 0;0;0 4.30 False ENSG00000134851 ENSG00000134851 HGNC:30760 TUFT1 gene TUFT1 Other Amelogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Woolly hair-skin fragility syndrome, OMIM:620415 25531160;36689522;37716648 False 1 0;0;100 4.30 False ENSG00000143367 ENSG00000143367 HGNC:12422