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
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