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{
"id": 269,
"name": "Amelogenesis imperfecta",
"strs": [],
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{
"tags": [],
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"Expert Review Green",
"Other"
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},
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"Amelogenesis imperfecta, type IJ, 617297",
"hypoplastic amelogenesis imperfecta"
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"27843125"
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},
{
"tags": [
"cnv"
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"Expert Review Green",
"Other",
"Radboud University Medical Center, Nijmegen"
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"alias": [],
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"alias_name": [
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"GRch37": {
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},
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},
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},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta, type IF, 616270"
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"transcript": null,
"entity_name": "AMBN",
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"26502894"
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"mode_of_pathogenicity": ""
},
{
"tags": [
"deletions"
],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
],
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"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:461",
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"300391"
],
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"amelogenesis imperfecta 1"
],
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"hgnc_symbol": "AMELX",
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"GRch37": {
"82": {
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},
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}
},
"hgnc_date_symbol_changed": "1988-05-11"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta, type 1E, 301200",
"Amelogenesis Imperfecta, Type IE, 301200",
"X-linked hypoplastic amelogenesis imperfecta",
"hypomaturation AI with variable hypoplastic foci",
"smooth hypoplastic AI"
],
"transcript": null,
"entity_name": "AMELX",
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"19610109",
"23251683",
"15111628",
"7782077",
"1916828",
"25117480",
"7599636",
"1483698",
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"9188994",
"11922869",
"11839357",
"7599636",
"22243263",
"11201048",
"26502894",
"28130977",
"8406474"
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"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"mode_of_pathogenicity": ""
},
{
"tags": [
"new-gene-name"
],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"FLJ23657",
"AI2A4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26300",
"gene_name": "odontogenesis associated phosphoprotein",
"omim_gene": [
"614829"
],
"alias_name": [
"amelogenesis imperfecta type IIA4"
],
"gene_symbol": "C4orf26",
"hgnc_symbol": "ODAPH",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:76481258-76491095",
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},
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"90": {
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}
},
"hgnc_date_symbol_changed": "2017-08-09"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta, type IIA4, 614832",
"Amelogenesis Imperfecta, Type IIA4, 614832",
"hypomineralized amelogenesis imperfecta"
],
"transcript": null,
"entity_name": "C4orf26",
"entity_type": "gene",
"publications": [
"27558265",
"22901946"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Other",
"Emory Genetics Laboratory"
],
"gene_data": {
"alias": [
"KIAA1592"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:105",
"gene_name": "cyclin and CBS domain divalent metal cation transport mediator 4",
"omim_gene": [
"607805"
],
"alias_name": null,
"gene_symbol": "CNNM4",
"hgnc_symbol": "CNNM4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:97426639-97477628",
"ensembl_id": "ENSG00000158158"
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},
"GRch38": {
"90": {
"location": "2:96760902-96811891",
"ensembl_id": "ENSG00000158158"
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}
},
"hgnc_date_symbol_changed": "1999-12-07"
},
"penetrance": "Complete",
"phenotypes": [
"Jalili syndrome, 217080 (includes amelogenesis imperfecta)",
"cone-rod dystrophy and amelogenesis imperfecta"
],
"transcript": null,
"entity_name": "CNNM4",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"monogenic-polygenic"
],
"evidence": [
"Expert Review Green",
"UKGTN",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"BP180"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2194",
"gene_name": "collagen type XVII alpha 1 chain",
"omim_gene": [
"113811"
],
"alias_name": null,
"gene_symbol": "COL17A1",
"hgnc_symbol": "COL17A1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:105791044-105845760",
"ensembl_id": "ENSG00000065618"
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},
"GRch38": {
"90": {
"location": "10:104031286-104086002",
"ensembl_id": "ENSG00000065618"
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}
},
"hgnc_date_symbol_changed": "1993-09-27"
},
"penetrance": "Complete",
"phenotypes": [
"Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting)",
"Amelogenesis Imperfecta",
"non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta",
"hypoplastic amelogenesis imperfecta"
],
"transcript": null,
"entity_name": "COL17A1",
"entity_type": "gene",
"publications": [
"16820943",
"27558265",
"26502894",
"8669466"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Illumina TruGenome Clinical Sequencing Services",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2916",
"gene_name": "distal-less homeobox 3",
"omim_gene": [
"600525"
],
"alias_name": null,
"gene_symbol": "DLX3",
"hgnc_symbol": "DLX3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:48067369-48072588",
"ensembl_id": "ENSG00000064195"
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},
"GRch38": {
"90": {
"location": "17:49990005-49995224",
"ensembl_id": "ENSG00000064195"
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}
},
"hgnc_date_symbol_changed": "1995-05-16"
},
"penetrance": "Complete",
"phenotypes": [
"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"
],
"transcript": null,
"entity_name": "DLX3",
"entity_type": "gene",
"publications": [
"21252474",
"20151948",
"26104267",
"15666299",
"9467018",
"23949819"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Illumina TruGenome Clinical Sequencing Services",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3344",
"gene_name": "enamelin",
"omim_gene": [
"606585"
],
"alias_name": null,
"gene_symbol": "ENAM",
"hgnc_symbol": "ENAM",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:71494461-71552533",
"ensembl_id": "ENSG00000132464"
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},
"GRch38": {
"90": {
"location": "4:70628744-70686816",
"ensembl_id": "ENSG00000132464"
}
}
},
"hgnc_date_symbol_changed": "1999-05-17"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta, type IB, 104500",
"Amelogenesis imperfecta, type IC, 204650",
"Amelogenesis Imperfecta, Dominant",
"autosomal recessive amelogenesis imperfecta"
],
"transcript": null,
"entity_name": "ENAM",
"entity_type": "gene",
"publications": [
"22029166",
"22540999",
"11978766",
"15723871",
"25143514",
"11487571",
"21597265",
"17316551",
"12407086",
"20439930",
"16246937",
"14684688",
"19329462",
"25769099",
"26502894",
"28334996"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"DKFZp434F2322"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23015",
"gene_name": "FAM20A, golgi associated secretory pathway pseudokinase",
"omim_gene": [
"611062"
],
"alias_name": null,
"gene_symbol": "FAM20A",
"hgnc_symbol": "FAM20A",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:66531254-66597530",
"ensembl_id": "ENSG00000108950"
}
},
"GRch38": {
"90": {
"location": "17:68535113-68601389",
"ensembl_id": "ENSG00000108950"
}
}
},
"hgnc_date_symbol_changed": "2003-09-03"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690",
"Amelogenesis Imperfecta, Type IG, 204690",
"Hypomieralised AI"
],
"transcript": null,
"entity_name": "FAM20A",
"entity_type": "gene",
"publications": [
"21990045",
"24756937",
"23697977",
"23434854",
"24259279",
"24196488",
"21549343",
"23468644",
"26502894",
"25827751"
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"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"IMAGE:4942737",
"DKFZp547D065",
"DMP4",
"G-CK"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:22140",
"gene_name": "FAM20C, golgi associated secretory pathway kinase",
"omim_gene": [
"611061"
],
"alias_name": [
"dentin matrix protein 4",
"golgi casein kinase"
],
"gene_symbol": "FAM20C",
"hgnc_symbol": "FAM20C",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:192969-300711",
"ensembl_id": "ENSG00000177706"
}
},
"GRch38": {
"90": {
"location": "7:192969-260745",
"ensembl_id": "ENSG00000177706"
}
}
},
"hgnc_date_symbol_changed": "2003-09-03"
},
"penetrance": "Complete",
"phenotypes": [
"Raine Syndrome, 259775",
"hypoplastic Amelogenesis Imperfecta"
],
"transcript": null,
"entity_name": "FAM20C",
"entity_type": "gene",
"publications": [
"25928877",
"17924334",
"24039075",
"24458843",
"19250384",
"23325605",
"20825432",
"24982027",
"20453638",
"27667191",
"27862258"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"FLJ46072"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24797",
"gene_name": "family with sequence similarity 83 member H",
"omim_gene": [
"611927"
],
"alias_name": null,
"gene_symbol": "FAM83H",
"hgnc_symbol": "FAM83H",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:144806103-144815971",
"ensembl_id": "ENSG00000180921"
}
},
"GRch38": {
"90": {
"location": "8:143723933-143733801",
"ensembl_id": "ENSG00000180921"
}
}
},
"hgnc_date_symbol_changed": "2006-03-23"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta, type III, 130900",
"Amelogenesis Imperfecta, Type III, 130900",
"Hypocalcified AI"
],
"transcript": null,
"entity_name": "FAM83H",
"entity_type": "gene",
"publications": [
"20160442",
"19407157",
"18484629",
"21702852",
"19407157",
"22414746",
"18252228",
"21597265",
"19828885",
"19825039",
"19220331",
"26788537",
"21118793",
"26502894",
"26171361",
"26481691",
"26142250"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [
"deletions"
],
"evidence": [
"Expert Review Green",
"UKGTN",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"OGR1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4519",
"gene_name": "G protein-coupled receptor 68",
"omim_gene": [
"601404"
],
"alias_name": null,
"gene_symbol": "GPR68",
"hgnc_symbol": "GPR68",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:91698876-91720269",
"ensembl_id": "ENSG00000119714"
}
},
"GRch38": {
"90": {
"location": "14:91232532-91253925",
"ensembl_id": "ENSG00000119714"
}
}
},
"hgnc_date_symbol_changed": "1999-10-22"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta, hypomaturation type, IIA6, 617217"
],
"transcript": null,
"entity_name": "GPR68",
"entity_type": "gene",
"publications": [
"27693231"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"Other"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6161",
"gene_name": "integrin subunit beta 6",
"omim_gene": [
"147558"
],
"alias_name": null,
"gene_symbol": "ITGB6",
"hgnc_symbol": "ITGB6",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:160956177-161128399",
"ensembl_id": "ENSG00000115221"
}
},
"GRch38": {
"90": {
"location": "2:160099666-160271888",
"ensembl_id": "ENSG00000115221"
}
}
},
"hgnc_date_symbol_changed": "1992-02-14"
},
"penetrance": "Complete",
"phenotypes": [
"amelogenesis imperfecta (non-syndromic form)",
"Amelogenesis imperfecta, type IH, 616221",
"Amelogenesis imperfecta, type IH, 616221"
],
"transcript": null,
"entity_name": "ITGB6",
"entity_type": "gene",
"publications": [
"24305999",
"25431241",
"24319098",
"26695873"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"EMSP",
"EMSP1",
"PSTS",
"KLK-L1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6365",
"gene_name": "kallikrein related peptidase 4",
"omim_gene": [
"603767"
],
"alias_name": [
"enamel matrix serine proteinase 1"
],
"gene_symbol": "KLK4",
"hgnc_symbol": "KLK4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:51409608-51413994",
"ensembl_id": "ENSG00000167749"
}
},
"GRch38": {
"90": {
"location": "19:50906352-50910738",
"ensembl_id": "ENSG00000167749"
}
}
},
"hgnc_date_symbol_changed": "1999-04-29"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta, type IIA1, 204700",
"Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700"
],
"transcript": null,
"entity_name": "KLK4",
"entity_type": "gene",
"publications": [
"15235027",
"23355523",
"26124219",
"28611678"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"monogenic-polygenic"
],
"evidence": [
"Expert Review Green",
"UKGTN",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"nicein-150kDa",
"kalinin-165kDa",
"BM600-150kDa",
"epiligrin"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6483",
"gene_name": "laminin subunit alpha 3",
"omim_gene": [
"600805"
],
"alias_name": null,
"gene_symbol": "LAMA3",
"hgnc_symbol": "LAMA3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:21269407-21535030",
"ensembl_id": "ENSG00000053747"
}
},
"GRch38": {
"90": {
"location": "18:23689443-23955066",
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
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"Epidermolysis bullosa, generalized atrophic benign 226650",
"Epidermolysis bullosa, junctional, Herlitz type 226700",
"Laryngoonychocutaneous syndrome 245660"
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"entity_name": "LAMA3",
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"26502894",
"27827380"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
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"kalinin-140kDa",
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
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"Amelogenesis Imperfecta, Type IA, 104530",
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"entity_name": "LAMB3",
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"publications": [
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"23958762",
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"7706760",
"26502894",
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"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
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"UKGTN",
"Eligibility statement prior genetic testing",
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],
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},
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}
},
"hgnc_date_symbol_changed": "1995-05-11"
},
"penetrance": "Complete",
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"Amelogenesis Imperfecta",
"syndromic AI with brachyolmia"
],
"transcript": null,
"entity_name": "LTBP3",
"entity_type": "gene",
"publications": [
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"28084688"
],
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Illumina TruGenome Clinical Sequencing Services",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing"
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"gene_data": {
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],
"alias_name": [
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],
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},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1999-07-23"
},
"penetrance": "Complete",
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"Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529",
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"entity_name": "MMP20",
"entity_type": "gene",
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"15744043",
"18096894",
"26502894",
"23625376",
"23355523",
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"26124219",
"28659819"
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},
{
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"UKGTN"
],
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"CRACM1"
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},
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}
},
"hgnc_date_symbol_changed": "2007-08-14"
},
"penetrance": "Complete",
"phenotypes": [
"Immunodeficiency 9, 612782"
],
"transcript": null,
"entity_name": "ORAI1",
"entity_type": "gene",
"publications": [
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"26469693",
"16582901"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Eligibility statement prior genetic testing"
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"hgnc_id": "HGNC:8850",
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"omim_gene": [
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],
"alias_name": null,
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"hgnc_symbol": "PEX1",
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}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000127980"
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}
},
"hgnc_date_symbol_changed": "1998-01-08"
},
"penetrance": "Complete",
"phenotypes": [
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"hypomineralized amelogenesis imperfecta",
"amelogenesis imperfecta",
"Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539",
"Peroxisome biogenesis disorder 1A (Zellweger), 214100"
],
"transcript": null,
"entity_name": "PEX1",
"entity_type": "gene",
"publications": [
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"26387595",
"27633571"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Eligibility statement prior genetic testing"
],
"gene_data": {
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"PAF-2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8859",
"gene_name": "peroxisomal biogenesis factor 6",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "PEX6",
"hgnc_symbol": "PEX6",
"hgnc_release": "2017-11-03T00:00:00",
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},
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}
},
"hgnc_date_symbol_changed": "1997-05-22"
},
"penetrance": "Complete",
"phenotypes": [
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"transcript": null,
"entity_name": "PEX6",
"entity_type": "gene",
"publications": [
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"26387595",
"16530715"
],
"confidence_level": "3",
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},
{
"tags": [],
"evidence": [
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"Literature"
],
"gene_data": {
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],
"biotype": "protein_coding",
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],
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],
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"hgnc_symbol": "RELT",
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"ensembl_genes": {
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"82": {
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},
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
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"Amelogenesis imperfecta, type IIIC, 618386"
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"transcript": null,
"entity_name": "RELT",
"entity_type": "gene",
"publications": [
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],
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
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],
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],
"biotype": "protein_coding",
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},
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
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{
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}
},
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},
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}
},
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},
{
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}
},
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},
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},
{
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},
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}
},
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},
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"phenotypes": [
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],
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"24621671",
"26560041",
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"mode_of_pathogenicity": ""
},
{
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"Illumina TruGenome Clinical Sequencing Services",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
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}
},
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},
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"Amelogenesis Imperfecta, Recessive",
"Hypomaturation AI"
],
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"20938048",
"19853237",
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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},
{
"tags": [
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"watchlist"
],
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],
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],
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},
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}
},
"hgnc_date_symbol_changed": "2006-12-06"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta",
"dominant hypomineralised AI",
"Amelogenesis imperfecta, hypomaturation type",
"?Amelogenesis imperfecta, type IIIB, \t617607"
],
"transcript": null,
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"publications": [
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],
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},
{
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],
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],
"alias_name": [
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},
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
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"transcript": null,
"entity_name": "CLDN16",
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"publications": [
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],
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},
{
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"gene_name": "claudin 19",
"omim_gene": [
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],
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"hgnc_symbol": "CLDN19",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:43198764-43205925",
"ensembl_id": "ENSG00000164007"
}
},
"GRch38": {
"90": {
"location": "1:42733093-42740254",
"ensembl_id": "ENSG00000164007"
}
}
},
"hgnc_date_symbol_changed": "2000-03-15"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)"
],
"transcript": null,
"entity_name": "CLDN19",
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"publications": [
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],
"confidence_level": "2",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"watchlist"
],
"evidence": [
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"UKGTN",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"CD104"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6158",
"gene_name": "integrin subunit beta 4",
"omim_gene": [
"147557"
],
"alias_name": null,
"gene_symbol": "ITGB4",
"hgnc_symbol": "ITGB4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:73717408-73753899",
"ensembl_id": "ENSG00000132470"
}
},
"GRch38": {
"90": {
"location": "17:75721328-75757818",
"ensembl_id": "ENSG00000132470"
}
}
},
"hgnc_date_symbol_changed": "1991-08-06"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis Imperfecta",
"Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia)",
"Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting)"
],
"transcript": null,
"entity_name": "ITGB4",
"entity_type": "gene",
"publications": [],
"confidence_level": "2",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"watchlist"
],
"evidence": [
"Expert Review Amber",
"UKGTN",
"Eligibility statement prior genetic testing"
],
"gene_data": {
"alias": [
"nicein-100kDa",
"kalinin-105kDa",
"BM600-100kDa"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6493",
"gene_name": "laminin subunit gamma 2",
"omim_gene": [
"150292"
],
"alias_name": null,
"gene_symbol": "LAMC2",
"hgnc_symbol": "LAMC2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:183155373-183214035",
"ensembl_id": "ENSG00000058085"
}
},
"GRch38": {
"90": {
"location": "1:183186238-183244900",
"ensembl_id": "ENSG00000058085"
}
}
},
"hgnc_date_symbol_changed": "1993-07-13"
},
"penetrance": "Complete",
"phenotypes": [
"Amelogenesis Imperfecta",
"Epidermolysis bullosa, junctional, Herlitz type, 226700",
"Epidermolysis bullosa, junctional, non-Herlitz type, 226650"
],
"transcript": null,
"entity_name": "LAMC2",
"entity_type": "gene",
"publications": [
"26956061"
],
"confidence_level": "2",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"watchlist"
],
"evidence": [
"Expert Review Amber",
"Literature",
"Expert Review"
],
"gene_data": {
"alias": [
"FLJ20695"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:22965",
"gene_name": "peroxisomal biogenesis factor 26",
"omim_gene": [
"608666"
],
"alias_name": null,
"gene_symbol": "PEX26",
"hgnc_symbol": "PEX26",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:18560689-18613905",
"ensembl_id": "ENSG00000215193"
}
},
"GRch38": {
"90": {
"location": "22:18077920-18131138",
"ensembl_id": "ENSG00000215193"
}
}
},
"hgnc_date_symbol_changed": "2003-08-05"
},
"penetrance": "Complete",
"phenotypes": [
"Peroxisome biogenesis disorder 7A (Zellweger), 614872",
"Peroxisome biogenesis disorder 7B, 614873",
"Heimler syndrome",
"Amelogenesis imperfecta",
"enamel dysplasia"
],
"transcript": null,
"entity_name": "PEX26",
"entity_type": "gene",
"publications": [
"28944237"
],
"confidence_level": "2",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Literature"
],
"gene_data": {
"alias": [
"Kir1.1",
"ROMK1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6255",
"gene_name": "potassium voltage-gated channel subfamily J member 1",
"omim_gene": [
"600359"
],
"alias_name": null,
"gene_symbol": "KCNJ1",
"hgnc_symbol": "KCNJ1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:128706210-128737268",
"ensembl_id": "ENSG00000151704"
}
},
"GRch38": {
"90": {
"location": "11:128836315-128867373",
"ensembl_id": "ENSG00000151704"
}
}
},
"hgnc_date_symbol_changed": "1993-08-03"
},
"penetrance": "Complete",
"phenotypes": [
"Bartter syndrome, type 2, 241200",
"Amelogenesis Imperfecta"
],
"transcript": null,
"entity_name": "KCNJ1",
"entity_type": "gene",
"publications": [
"23341834"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Other"
],
"gene_data": {
"alias": [
"BAF60B",
"Rsc6p",
"CRACD2",
"PRO2451"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11107",
"gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2",
"omim_gene": [
"601736"
],
"alias_name": [
"mammalian chromatin remodeling complex BRG1-associated factor 60B",
"Swp73-like protein",
"chromatin remodeling complex BAF60B subunit",
"SWI/SNF complex 60 kDa subunit B"
],
"gene_symbol": "SMARCD2",
"hgnc_symbol": "SMARCD2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:61909444-61920425",
"ensembl_id": "ENSG00000108604"
}
},
"GRch38": {
"90": {
"location": "17:63832081-63843065",
"ensembl_id": "ENSG00000108604"
}
}
},
"hgnc_date_symbol_changed": "1998-05-15"
},
"penetrance": "Complete",
"phenotypes": [
"Specific granule deficiency 2, 617475"
],
"transcript": null,
"entity_name": "SMARCD2",
"entity_type": "gene",
"publications": [
"28369036"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Other"
],
"gene_data": {
"alias": [
"TMPT27",
"TPARL",
"GDT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30760",
"gene_name": "transmembrane protein 165",
"omim_gene": [
"614726"
],
"alias_name": [
"TPA regulated locus"
],
"gene_symbol": "TMEM165",
"hgnc_symbol": "TMEM165",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:56262124-56319564",
"ensembl_id": "ENSG00000134851"
}
},
"GRch38": {
"90": {
"location": "4:55395957-55453397",
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}
}
},
"hgnc_date_symbol_changed": "2006-07-17"
},
"penetrance": "Complete",
"phenotypes": [
"amelogenesis imperfecta"
],
"transcript": null,
"entity_name": "TMEM165",
"entity_type": "gene",
"publications": [
"22683087"
],
"confidence_level": "1",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Literature"
],
"gene_data": {
"alias": [
"p51",
"SHFM4",
"EEC3",
"p63",
"p73L",
"OFC8",
"KET",
"p73H",
"NBP",
"p53CP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15979",
"gene_name": "tumor protein p63",
"omim_gene": [
"603273"
],
"alias_name": null,
"gene_symbol": "TP63",
"hgnc_symbol": "TP63",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:189349205-189615068",
"ensembl_id": "ENSG00000073282"
}
},
"GRch38": {
"90": {
"location": "3:189631416-189897279",
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}
},
"hgnc_date_symbol_changed": "2002-04-18"
},
"penetrance": "Complete",
"phenotypes": [
"Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta"
],
"transcript": null,
"entity_name": "TP63",
"entity_type": "gene",
"publications": [],
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Other"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12422",
"gene_name": "tuftelin 1",
"omim_gene": [
"600087"
],
"alias_name": null,
"gene_symbol": "TUFT1",
"hgnc_symbol": "TUFT1",
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"ensembl_genes": {
"GRch37": {
"82": {
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}
},
"GRch38": {
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"location": "1:151540305-151583583",
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}
}
},
"hgnc_date_symbol_changed": "1993-08-24"
},
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"phenotypes": [
"amelogenesis imperfecta"
],
"transcript": null,
"entity_name": "TUFT1",
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"publications": [
"7919663"
],
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}
],
"stats": {
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"number_of_genes": 39,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": "58c7f3c78f620328d77ce70e",
"regions": [],
"version": "2.2",
"disease_group": "Skeletal disorders",
"version_created": "2020-02-13T12:03:28.696032Z",
"disease_sub_group": "Skeletal dysplasias",
"relevant_disorders": [
"Amelogenesis Imperfecta",
"R340"
],
"signed_off": "2020-02-13"
}