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;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IJ, MIM#617297;hypoplastic amelogenesis imperfecta 28513613;27843125;33552707 False 3 100;0;0 1.11 True ENSG00000142513 ENSG00000142513 HGNC:14376 AMBN gene AMBN Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amelogenesis imperfecta, type IF, MIM#616270 24858907;26502894;31402633;30174330 False 3 100;0;0 1.11 True ENSG00000178522 ENSG00000178522 HGNC:452 AMELX gene AMELX Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders 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;hypomaturation AI with variable hypoplastic foci;smooth hypoplastic AI 17189466;22243263;7599636;23251683;1483698;1916828;9188994;15111628;11201048;26502894;7782077;11922869;28130977;8406474;11839357;25117480;19610109 False 3 100;0;0 1.11 True ENSG00000125363 ENSG00000125363 HGNC:461 C4orf26 gene C4orf26 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis Imperfecta, Type IIA4, MIM#614832;hypomineralized amelogenesis imperfecta 22901946;27558265 False 3 100;0;0 1.11 True ENSG00000174792 ENSG00000174792 HGNC:26300 CLDN16 gene CLDN16 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia 3, renal, MIM# 248250;Amelogenesis imperfecta 26426912 False 3 100;0;0 1.11 True ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190;Amelogenesis imperfecta 27530400 False 3 100;0;0 1.11 True ENSG00000164007 ENSG00000164007 HGNC:2040 CNNM4 gene CNNM4 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Jalili syndrome, MIM#217080;cone-rod dystrophy and amelogenesis imperfecta 19200527;19200525;30705057 False 3 100;0;0 1.11 True ENSG00000158158 ENSG00000158158 HGNC:105 COL17A1 gene COL17A1 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting);Amelogenesis imperfecta MONDO:0019507, COL17A1-related 26502894;27558265;8669466;16820943 False 3 100;0;0 1.11 True ENSG00000065618 ENSG00000065618 HGNC:2194 DLX3 gene DLX3 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amelogenesis imperfecta, type IV, MIM# 104510;Trichodontoosseous syndrome, MIM# 190320 15666299;23949819;26104267;21252474;20151948;9467018;18203197 False 3 100;0;0 1.11 True ENSG00000064195 ENSG00000064195 HGNC:2916 DSPP gene DSPP Expert Review Green;Literature Amelogenesis imperfecta Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentinogenesis imperfecta, Shields type II, OMIM #125490 PMID: 18456718, 11175779 False 3 100;0;0 1.11 True ENSG00000152591 ENSG00000152591 HGNC:3054 ENAM gene ENAM Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amelogenesis imperfecta, type IB, MIM# 104500;Amelogenesis imperfecta, type IC, MIM# 204650 33864320;14684688;11978766;12407086;20439930;25769099;22540999;25143514;22029166;19329462;28334996;26502894;17316551;21597265;16246937;15723871;11487571 False 3 100;0;0 1.11 True ENSG00000132464 ENSG00000132464 HGNC:3344 FAM20A gene FAM20A Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690 23434854;23697977;23468644;24756937;21549343;24259279;24196488;26502894;25827751;21990045 False 3 100;0;0 1.11 True ENSG00000108950 ENSG00000108950 HGNC:23015 FAM20C gene FAM20C Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome MIM#259775;hypoplastic Amelogenesis Imperfecta 24982027;20825432;24458843;20453638;25928877;27667191;23325605;27862258;19250384;17924334;24039075 False 3 100;0;0 1.11 True ENSG00000177706 ENSG00000177706 HGNC:22140 FAM83H gene FAM83H Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amelogenesis imperfecta, type IIIA MIM#130900 18484629;19407157;19825039;26481691;21702852;20160442;26142250;22414746;19828885;19220331;26502894;18252228;21597265;21118793;26788537;26171361 False 3 100;0;0 1.11 True Other - please provide details in the comments ENSG00000180921 ENSG00000180921 HGNC:24797 GPR68 gene GPR68 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217 27693231;32279993 False 3 100;0;0 1.11 True ENSG00000119714 ENSG00000119714 HGNC:4519 ITGB4 gene ITGB4 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650;Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730 False 3 100;0;0 1.11 True ENSG00000132470 ENSG00000132470 HGNC:6158 ITGB6 gene ITGB6 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IH, MIM# 616221 25431241;26695873;24305999;24319098 False 3 100;0;0 1.11 True ENSG00000115221 ENSG00000115221 HGNC:6161 KLK4 gene KLK4 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA1, MIM# 204700 15235027;23355523;26124219;28611678;27066511 False 3 100;0;0 1.11 True ENSG00000167749 ENSG00000167749 HGNC:6365 LAMA3 gene LAMA3 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Epidermolysis bullosa, junctional 2A, intermediate MIM#619783;Epidermolysis bullosa, junctional 2B, severe MIM#619784;Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660" 22434185;26502894;27827380 False 3 100;0;0 1.11 True ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB3 gene LAMB3 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Amelogenesis imperfecta, type IA, MIM# 104530;Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 23958762;7706760;23632796;26502894;27220909;25769099;24494736 False 3 100;0;0 1.11 True Other - please provide details in the comments ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 26956061 False 3 100;0;0 1.11 True ENSG00000058085 ENSG00000058085 HGNC:6493 LTBP3 gene LTBP3 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Dental anomalies and short stature, 601216;Amelogenesis Imperfecta;syndromic AI with brachyolmia 28084688;25669657;19344874;25899461;29625025 False 3 100;0;0 1.11 True ENSG00000168056 ENSG00000168056 HGNC:6716 MMP20 gene MMP20 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA2, MIM# 612529 23625376;26124219;28659819;19966041;26502894;28473773;23355523;18096894;16246936;15744043 False 3 100;0;0 1.11 True ENSG00000137674 ENSG00000137674 HGNC:7167 ORAI1 gene ORAI1 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9, MIM# 612782;Hypocalcified amelogenesis imperfecta 26469693;16582901;20004786 False 3 100;0;0 1.11 True ENSG00000182500 ENSG00000276045 HGNC:25896 PEX1 gene PEX1 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 1, MIM# 234580 26387595;27633571;27302843 False 3 100;0;0 1.11 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX26 gene PEX26 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome;Amelogenesis imperfecta 28944237;33926089 False 3 100;0;0 1.11 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX6 gene PEX6 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 2, MIM# 616617 26387595;27302843;16530715;27633571;27302843 False 3 100;0;0 1.11 True ENSG00000124587 ENSG00000124587 HGNC:8859 PLXNB2 gene PLXNB2 Expert Review Green;Literature Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, PLXNB2 -related PMID: 38458752 False 3 100;0;0 1.11 True ENSG00000196576 ENSG00000196576 HGNC:9104 RELT gene RELT Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIIC, MIM# 618386 30506946 False 3 100;0;0 1.11 True ENSG00000054967 ENSG00000054967 HGNC:13764 ROGDI gene ROGDI Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome MIM #226750;Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 22482807;28651123;3236364;22424600;25565929;23086778 False 3 100;0;0 1.11 True ENSG00000067836 ENSG00000067836 HGNC:29478 SLC10A7 gene SLC10A7 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363) 29878199;30082715 False 3 100;0;0 1.11 True ENSG00000120519 ENSG00000120519 HGNC:23088 SLC13A5 gene SLC13A5 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 27261973;26384929;27600704;24995870 False 3 100;0;0 1.11 True ENSG00000141485 ENSG00000141485 HGNC:23089 SLC24A4 gene SLC24A4 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA5, MIM# 615887 24621671;25442250;24532815;26502894;27129268;23375655 False 3 100;0;0 1.11 True ENSG00000140090 ENSG00000140090 HGNC:10978 SP6 gene SP6 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amelogenesis imperfecta, type IK, MIM# 620104 18297738;32167558;18156176;22676574;33652941 False 3 100;0;0 1.11 True ENSG00000189120 ENSG00000189120 HGNC:14530 STIM1 gene STIM1 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10, MIM# 612783;Hypomineralised amelogenesis imperfecta 19420366;26560041;24621671;22190180;28732182;31448844 False 3 100;0;0 1.11 True ENSG00000167323 ENSG00000167323 HGNC:11386 WDR72 gene WDR72 Expert Review Green;Genomics England PanelApp Amelogenesis imperfecta Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA3, MIM# 613211 21196691;27259663;20938048;26502894;23293580;25008349;19853237 False 3 100;0;0 1.11 True ENSG00000166415 ENSG00000166415 HGNC:26790