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{
"id": 472,
"name": "Monogenic diabetes",
"strs": [],
"genes": [
{
"tags": [],
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"NHS GMS",
"Expert Review Green"
],
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"HI",
"PHHI",
"SUR1",
"MRP8",
"ABC36",
"HHF1",
"TNDM2"
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}
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"Transient Neonatal Diabetes, Dominant",
"transient neonatal diabetes (Dominant)",
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"DIABETES MELLITUS, NONINSULIN-DEPENDENT",
"Diabetes mellitus, transient neonatal 2, 610374",
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"Hypoglycemia of infancy, leucine-sensitive, 240800",
"Permanent neonatal diabetes mellitus",
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],
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"entity_name": "ABCC8",
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
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"alias": [],
"biotype": "protein_coding",
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"hgnc_symbol": "AKT2",
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"82": {
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},
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}
},
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},
"penetrance": null,
"phenotypes": [
"Diabetes mellitus, type II, 125853",
"Severe insulin resistance, partial lipodystrophy and diabetes"
],
"transcript": null,
"entity_name": "AKT2",
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"17576055",
"17327441",
"15166380"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
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"APPL"
],
"biotype": "protein_coding",
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"604299"
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"DCC-interacting protein 13-alpha"
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"hgnc_symbol": "APPL1",
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},
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}
},
"hgnc_date_symbol_changed": "2007-01-26"
},
"penetrance": null,
"phenotypes": [
"{Maturity-onset diabetes of the young, type 14}, 616511",
"Diabetes"
],
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"entity_name": "APPL1",
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
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"BSSL",
"MODY8"
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"hgnc_id": "HGNC:1848",
"gene_name": "carboxyl ester lipase",
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"114840"
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"alias_name": [
"bile salt-stimulated lipase"
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"gene_symbol": "CEL",
"hgnc_symbol": "CEL",
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"GRch37": {
"82": {
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}
},
"GRch38": {
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"location": "9:133061978-133071861",
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}
},
"hgnc_date_symbol_changed": "1990-12-19"
},
"penetrance": null,
"phenotypes": [
"Maturity-onset diabetes of the young, type VIII, 609812",
"Diabetes and pancreatic exocrine dysfunction"
],
"transcript": null,
"entity_name": "CEL",
"entity_type": "gene",
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"16369531",
"24062244",
"21784842",
"19760265",
"18544793",
"17989309",
"27650499",
"25160620"
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"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"Miner1",
"ERIS",
"NAF-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24212",
"gene_name": "CDGSH iron sulfur domain 2",
"omim_gene": [
"611507"
],
"alias_name": [
"mitoNEET related 1",
"endoplasmic reticulum intermembrane small protein",
"nutrient-deprivation autophagy factor-1"
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"hgnc_symbol": "CISD2",
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"GRch37": {
"82": {
"location": "4:103790135-103810399",
"ensembl_id": "ENSG00000145354"
}
},
"GRch38": {
"90": {
"location": "4:102868978-102889242",
"ensembl_id": "ENSG00000145354"
}
}
},
"hgnc_date_symbol_changed": "2007-08-10"
},
"penetrance": null,
"phenotypes": [
"Wolfram syndrome 2604928"
],
"transcript": null,
"entity_name": "CISD2",
"entity_type": "gene",
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"17846994",
"25056293"
],
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"gene_data": {
"alias": [
"FLJ13096"
],
"biotype": "protein_coding",
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"gene_name": "DDB1 and CUL4 associated factor 17",
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"612515"
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"Woodhouse-Sakati syndrome"
],
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"ensembl_genes": {
"GRch37": {
"82": {
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"ensembl_id": "ENSG00000115827"
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},
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"90": {
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}
},
"hgnc_date_symbol_changed": "2009-07-17"
},
"penetrance": null,
"phenotypes": [
"Woodhouse-Sakati syndrome, 241080",
"Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)"
],
"transcript": null,
"entity_name": "DCAF17",
"entity_type": "gene",
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"20507343",
"19026396",
"24464444"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"gene_data": {
"alias": [
"P58",
"P58IPK",
"HP58",
"ERdj6"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9439",
"gene_name": "DnaJ heat shock protein family (Hsp40) member C3",
"omim_gene": [
"601184"
],
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"protein kinase inhibitor of 58 kDa",
"endoplasmic reticulum DNA J domain-containing protein 6"
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"gene_symbol": "DNAJC3",
"hgnc_symbol": "DNAJC3",
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"ensembl_genes": {
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"82": {
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},
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"ensembl_id": "ENSG00000102580"
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}
},
"hgnc_date_symbol_changed": "1995-09-20"
},
"penetrance": null,
"phenotypes": [
"?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192",
"Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration"
],
"transcript": null,
"entity_name": "DNAJC3",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"gene_data": {
"alias": [
"MIRK"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3092",
"gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1B",
"omim_gene": [
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},
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}
},
"hgnc_date_symbol_changed": "1999-01-29"
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"penetrance": null,
"phenotypes": [
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"Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)"
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"transcript": null,
"entity_name": "DYRK1B",
"entity_type": "gene",
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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},
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"90": {
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}
},
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"phenotypes": [
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"Pancreatic agenesis and/or congenital heart defects",
"Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)"
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"transcript": null,
"entity_name": "GATA4",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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"alias": [],
"biotype": "protein_coding",
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},
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}
},
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"PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS",
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"entity_name": "GATA6",
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"23635550",
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"24310933",
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"25708516",
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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},
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}
},
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"MODY2",
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"Maturity-Onset Diabetes Of The Young",
"Hyperinsulinemic hypoglycemia, familial, 3, 602485",
"Diabetes mellitus, noninsulin-dependent, late onset, 125853",
"Permanent neonatal diabetes",
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2",
"Permanent Neonatal Diabetes Mellitus (recessive)",
"Maturity-onset diabetes of the young (MODY)",
"Permanent Neonatal Diabetes Mellitus",
"Maturity Onset Diabetes of the Young (Dominant)",
"Diabetes mellitus, gestational, 125851",
"MODY, type II, 125851",
"Maturity Onset Diabetes of the Young",
"Neonatal diabetes",
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"entity_name": "GCK",
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},
{
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"evidence": [
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"Expert Review Green"
],
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},
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}
},
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"phenotypes": [
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"Diabetes mellitus, insulin-dependent, 20, 612520",
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3",
"MODY3",
"Maturity-onset diabetes of the young (MODY)",
"{Diabetes mellitus, noninsulin-dependent, 2}, 125853",
"MODY, type III, 600496",
"Maturity Onset Diabetes of the Young"
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"mode_of_pathogenicity": ""
},
{
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"Expert Review Green"
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"Renal Cysts and Diabetes Syndrome",
"Diabetes mellitus, noninsulin-dependent, 125853",
"Maturity-Onset Diabetes Of The Young",
"RCAD",
"renal malformation",
"{Renal cell carcinoma}, 144700",
"Renal cysts and diabetes syndrome, 137920",
"RENAL CYSTS AND DIABETES SYNDROME"
],
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"mode_of_pathogenicity": ""
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{
"tags": [],
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"Expert Review Green"
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"Maturity-Onset Diabetes Of The Young, Type 1",
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],
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},
{
"tags": [],
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"Expert Review Green"
],
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"Diabetes mellitus, insulin-dependent, 2, 125852",
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10",
"Maturity Onset Diabetes of the Young",
"Permanent Neonatal diabetes mellitus",
"Hyperproinsulinemia, familial, with or without diabetes",
"Maturity Onset Diabetes of the Young (Dominant)",
"Diabetes mellitus, type 1, 125852"
],
"transcript": null,
"entity_name": "INS",
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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"biotype": "protein_coding",
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"ensembl_id": "ENSG00000171105"
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"ensembl_id": "ENSG00000171105"
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"phenotypes": [
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"Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549",
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"Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans",
"OMIM 610549",
"Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities",
"Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans",
"Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities",
"Diabetes mellitus, insulin-resistant, with acanthosis nigricans",
"Hyperinsulinemic hypoglycemia, familial, 5, 609968",
"DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS"
],
"transcript": null,
"entity_name": "INSR",
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"publications": [
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],
"confidence_level": "3",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green"
],
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"BIR"
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"ensembl_id": "ENSG00000187486"
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},
"GRch38": {
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"location": "11:17385859-17389331",
"ensembl_id": "ENSG00000187486"
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}
},
"hgnc_date_symbol_changed": "1997-09-12"
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"phenotypes": [
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"Transient Neonatal Diabetes, Dominant",
"Diabetes mellitus, transient neonatal, 3, 610582",
"Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive)",
"Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582",
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"Diabetes mellitus, permanent neonatal, with neurologic features, 606176",
"Maturity Onset Diabetes of the Young",
"{Diabetes mellitus, type 2, susceptibility to}, 125853",
"Hyperinsulinemic hypoglycemia, familial, 2, 601820",
"Transient Neonatal, 3",
"Maturity Onset Diabetes of the Young (Dominant)",
"Diabetes Mellitus, Permanent Neonatal",
"Diabetes mellitus, trans",
"Diabetes Mellitus, Transient Neonatal, 3"
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"transcript": null,
"entity_name": "KCNJ11",
"entity_type": "gene",
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"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
},
{
"tags": [],
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"Expert Review Green"
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"MADA"
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"biotype": "protein_coding",
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"alias_name": [
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"hgnc_symbol": "LMNA",
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"ensembl_id": "ENSG00000160789"
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},
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}
},
"hgnc_date_symbol_changed": "1992-04-09"
},
"penetrance": null,
"phenotypes": [
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"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2",
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"Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules",
"Severe insulin resistance, partial lipodystrophy and diabetes"
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"transcript": null,
"entity_name": "LMNA",
"entity_type": "gene",
"publications": [
"26775134",
"24002959"
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"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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"NHS GMS",
"Expert Review Green"
],
"gene_data": {
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],
"biotype": "Mt_tRNA",
"hgnc_id": "HGNC:7490",
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"omim_gene": [
"590050"
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"alias_name": null,
"gene_symbol": "MT-TL1",
"hgnc_symbol": "MT-TL1",
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"ensembl_genes": {
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"82": {
"location": "MT:3230-3304",
"ensembl_id": "ENSG00000209082"
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},
"GRch38": {
"90": {
"location": "MT:3230-3304",
"ensembl_id": "ENSG00000209082"
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}
},
"hgnc_date_symbol_changed": "2005-02-16"
},
"penetrance": null,
"phenotypes": [
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"DIABETES AND DEAFNESS, MATERNALLY INHERITED",
"Diabetes-Deafness Syndrome, Maternally Transmitted",
"MELAS syndrome",
"Maternally inherited diabetes"
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"transcript": null,
"entity_name": "MT-TL1",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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"BHF-1",
"NeuroD",
"bHLHa3",
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],
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"neurogenic helix-loop-helix protein NEUROD"
],
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"hgnc_symbol": "NEUROD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
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},
"GRch38": {
"90": {
"location": "2:181673088-181680876",
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}
},
"hgnc_date_symbol_changed": "1996-03-12"
},
"penetrance": null,
"phenotypes": [
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"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6",
"{Diabetes mellitus, noninsulin-dependent}, 125853",
"Maturity-Onset Diabetes Of The Young",
"MODY6",
"Permanent neonatal diabetes and cerebellar agenesis",
"Maturity Onset Diabetes of the Young"
],
"transcript": null,
"entity_name": "NEUROD1",
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"10545951",
"26669242",
"20573748"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"NHS GMS"
],
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"AN",
"WAGR"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8620",
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],
"alias_name": [
"aniridia, keratitis"
],
"gene_symbol": "PAX6",
"hgnc_symbol": "PAX6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:31806340-31839509",
"ensembl_id": "ENSG00000007372"
}
},
"GRch38": {
"90": {
"location": "11:31784779-31818062",
"ensembl_id": "ENSG00000007372"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": null,
"phenotypes": [
"Aniridia 106210",
"diabetes"
],
"transcript": null,
"entity_name": "PAX6",
"entity_type": "gene",
"publications": [],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"gene_data": {
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8646",
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"omim_gene": [
"126090"
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"dimerizing cofactor for HNF1"
],
"gene_symbol": "PCBD1",
"hgnc_symbol": "PCBD1",
"hgnc_release": "2017-11-03",
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"82": {
"location": "10:72642037-72648541",
"ensembl_id": "ENSG00000166228"
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},
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"90": {
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}
},
"hgnc_date_symbol_changed": "2005-02-11"
},
"penetrance": null,
"phenotypes": [
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],
"transcript": null,
"entity_name": "PCBD1",
"entity_type": "gene",
"publications": [
"24204001",
"24848070"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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"alias": [
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"STF-1",
"PDX-1",
"MODY4"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:6107",
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"omim_gene": [
"600733"
],
"alias_name": [
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],
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"hgnc_symbol": "PDX1",
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"GRch37": {
"82": {
"location": "13:28494157-28500368",
"ensembl_id": "ENSG00000139515"
}
},
"GRch38": {
"90": {
"location": "13:27920020-27926231",
"ensembl_id": "ENSG00000139515"
}
}
},
"hgnc_date_symbol_changed": "2006-12-01"
},
"penetrance": null,
"phenotypes": [
"Pancreatic agenesis 1",
"MODY4",
"Maturity-Onset Diabetes Of The Young",
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4",
"Permanent neonatal diabetes",
"Maturity-onset diabetes of the young (MODY)",
"MODY type IV",
"Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392"
],
"transcript": null,
"entity_name": "PDX1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
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"p85-ALPHA",
"p85"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8979",
"gene_name": "phosphoinositide-3-kinase regulatory subunit 1",
"omim_gene": [
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],
"alias_name": [
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],
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"hgnc_symbol": "PIK3R1",
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"ensembl_genes": {
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"82": {
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},
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"90": {
"location": "5:68215720-68301821",
"ensembl_id": "ENSG00000145675"
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}
},
"hgnc_date_symbol_changed": "1992-12-08"
},
"penetrance": null,
"phenotypes": [
"Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880",
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"transcript": null,
"entity_name": "PIK3R1",
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],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
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"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9076",
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"omim_gene": [
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"alias_name": null,
"gene_symbol": "PLIN1",
"hgnc_symbol": "PLIN1",
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"82": {
"location": "15:90207596-90222658",
"ensembl_id": "ENSG00000166819"
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},
"GRch38": {
"90": {
"location": "15:89664365-89679427",
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}
},
"hgnc_date_symbol_changed": "2009-08-12"
},
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"phenotypes": [
"partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes",
"Lipodystrophy, familial partial, type 4, 613877",
"Severe insulin resistance, partial lipodystrophy and diabetes"
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"transcript": null,
"entity_name": "PLIN1",
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"30020498",
"11371650",
"25695774"
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green"
],
"gene_data": {
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9175",
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}
},
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"phenotypes": [
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"multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males",
"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome",
"multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males",
"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381"
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"transcript": null,
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"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
},
{
"tags": [],
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"Expert Review Green"
],
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"alias_name": null,
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},
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}
},
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"FPLD3",
"{Diabetes, type 2}, 125853",
"[Obesity, resistance to]",
"Obesity, severe, 601665",
"Lipodystrophy, familial partial, type 3",
"Insulin resistance, severe, digenic",
"Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension",
"Insulin resistance, severe, digenic 604367",
"Insulin resistance, severe, digenic, 604367",
"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3",
"Lipodystrophy, familial partial, type 3 604367",
"Carotid intimal medial thickness 1, 609338"
],
"transcript": null,
"entity_name": "PPARG",
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"mode_of_pathogenicity": ""
},
{
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"NHS GMS"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:14951",
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},
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}
},
"hgnc_date_symbol_changed": "2001-06-29"
},
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"phenotypes": [
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"transcript": null,
"entity_name": "PPP1R15B",
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},
{
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"gene_data": {
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},
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}
},
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"phenotypes": [
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"transcript": null,
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"26770845",
"26761945",
"27185633",
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"mode_of_pathogenicity": ""
},
{
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"Expert Review Green"
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},
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