HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"id": 472,
"hash_id": null,
"name": "Monogenic diabetes",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "2.58",
"version_created": "2024-04-24T16:03:36.292427Z",
"relevant_disorders": [
"R141"
],
"stats": {
"number_of_genes": 79,
"number_of_strs": 0,
"number_of_regions": 1
},
"types": [
{
"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 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."
}
],
"genes": [
{
"gene_data": {
"alias": [
"HI",
"PHHI",
"SUR1",
"MRP8",
"ABC36",
"HHF1",
"TNDM2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:59",
"gene_name": "ATP binding cassette subfamily C member 8",
"omim_gene": [
"600509"
],
"alias_name": [
"sulfonylurea receptor (hyperinsulinemia)"
],
"gene_symbol": "ABCC8",
"hgnc_symbol": "ABCC8",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:17414432-17498449",
"ensembl_id": "ENSG00000006071"
}
},
"GRch38": {
"90": {
"location": "11:17392885-17476845",
"ensembl_id": "ENSG00000006071"
}
}
},
"hgnc_date_symbol_changed": "1995-01-10"
},
"entity_type": "gene",
"entity_name": "ABCC8",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant)",
"Diabetes mellitus, noninsulin-dependent, OMIM:125853",
"Diabetes mellitus, transient neonatal 2, OMIM:610374",
"Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450",
"Hypoglycemia of infancy, leucine-sensitive, OMIM:240800",
"Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:392",
"gene_name": "AKT serine/threonine kinase 2",
"omim_gene": [
"164731"
],
"alias_name": null,
"gene_symbol": "AKT2",
"hgnc_symbol": "AKT2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:40736224-40791443",
"ensembl_id": "ENSG00000105221"
}
},
"GRch38": {
"90": {
"location": "19:40230317-40285536",
"ensembl_id": "ENSG00000105221"
}
}
},
"hgnc_date_symbol_changed": "1992-11-05"
},
"entity_type": "gene",
"entity_name": "AKT2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17576055",
"17327441",
"15166380"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Diabetes mellitus, type II, OMIM:125853",
"Type 2 diabetes mellitus, MONDO:0005148"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"APPL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24035",
"gene_name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
"omim_gene": [
"604299"
],
"alias_name": [
"DCC-interacting protein 13-alpha"
],
"gene_symbol": "APPL1",
"hgnc_symbol": "APPL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:57261765-57307496",
"ensembl_id": "ENSG00000157500"
}
},
"GRch38": {
"90": {
"location": "3:57227737-57273468",
"ensembl_id": "ENSG00000157500"
}
}
},
"hgnc_date_symbol_changed": "2007-01-26"
},
"entity_type": "gene",
"entity_name": "APPL1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"{Maturity-onset diabetes of the young, type 14}, OMIM:616511"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BSSL",
"MODY8"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1848",
"gene_name": "carboxyl ester lipase",
"omim_gene": [
"114840"
],
"alias_name": [
"bile salt-stimulated lipase"
],
"gene_symbol": "CEL",
"hgnc_symbol": "CEL",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:135937365-135947248",
"ensembl_id": "ENSG00000170835"
}
},
"GRch38": {
"90": {
"location": "9:133061978-133071861",
"ensembl_id": "ENSG00000170835"
}
}
},
"hgnc_date_symbol_changed": "1990-12-19"
},
"entity_type": "gene",
"entity_name": "CEL",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16369531",
"24062244",
"21784842",
"19760265",
"18544793",
"17989309",
"27650499",
"25160620"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Maturity-onset diabetes of the young, type VIII, OMIM:609812",
"Diabetes and pancreatic exocrine dysfunction"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"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"
],
"gene_symbol": "CISD2",
"hgnc_symbol": "CISD2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"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"
},
"entity_type": "gene",
"entity_name": "CISD2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17846994",
"25056293"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Wolfram syndrome 2, OMIM:604928"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ13096"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25784",
"gene_name": "DDB1 and CUL4 associated factor 17",
"omim_gene": [
"612515"
],
"alias_name": [
"Woodhouse-Sakati syndrome"
],
"gene_symbol": "DCAF17",
"hgnc_symbol": "DCAF17",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:172290727-172341562",
"ensembl_id": "ENSG00000115827"
}
},
"GRch38": {
"90": {
"location": "2:171434217-171485052",
"ensembl_id": "ENSG00000115827"
}
}
},
"hgnc_date_symbol_changed": "2009-07-17"
},
"entity_type": "gene",
"entity_name": "DCAF17",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20507343",
"19026396",
"24464444"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Woodhouse-Sakati syndrome, OMIM:241080"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"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"
],
"alias_name": [
"interferon-induced, double-stranded RNA-activated protein kinase inhibitor",
"protein kinase inhibitor of 58 kDa",
"endoplasmic reticulum DNA J domain-containing protein 6"
],
"gene_symbol": "DNAJC3",
"hgnc_symbol": "DNAJC3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:96329393-96447243",
"ensembl_id": "ENSG00000102580"
}
},
"GRch38": {
"90": {
"location": "13:95677139-95794989",
"ensembl_id": "ENSG00000102580"
}
}
},
"hgnc_date_symbol_changed": "1995-09-20"
},
"entity_type": "gene",
"entity_name": "DNAJC3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192",
"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MIRK"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3092",
"gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1B",
"omim_gene": [
"604556"
],
"alias_name": [
"minibrain-related kinase"
],
"gene_symbol": "DYRK1B",
"hgnc_symbol": "DYRK1B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:40315990-40324841",
"ensembl_id": "ENSG00000105204"
}
},
"GRch38": {
"90": {
"location": "19:39825350-39834201",
"ensembl_id": "ENSG00000105204"
}
}
},
"hgnc_date_symbol_changed": "1999-01-29"
},
"entity_type": "gene",
"entity_name": "DYRK1B",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Abdominal obesity-metabolic syndrome 3, OMIM:615812"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4173",
"gene_name": "GATA binding protein 4",
"omim_gene": [
"600576"
],
"alias_name": null,
"gene_symbol": "GATA4",
"hgnc_symbol": "GATA4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:11534468-11617511",
"ensembl_id": "ENSG00000136574"
}
},
"GRch38": {
"90": {
"location": "8:11676959-11760002",
"ensembl_id": "ENSG00000136574"
}
}
},
"hgnc_date_symbol_changed": "1994-11-30"
},
"entity_type": "gene",
"entity_name": "GATA4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24696446"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"NEONATAL DIABETES MELLITUS, MONDO:0016391",
"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802",
"Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4174",
"gene_name": "GATA binding protein 6",
"omim_gene": [
"601656"
],
"alias_name": null,
"gene_symbol": "GATA6",
"hgnc_symbol": "GATA6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:19749404-19782491",
"ensembl_id": "ENSG00000141448"
}
},
"GRch38": {
"90": {
"location": "18:22169443-22202528",
"ensembl_id": "ENSG00000141448"
}
}
},
"hgnc_date_symbol_changed": "1996-10-11"
},
"entity_type": "gene",
"entity_name": "GATA6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22806356",
"25706805",
"23635550",
"24433315",
"24310933",
"23639568",
"22158542",
"26210631",
"22962692",
"27098067",
"25708516",
"23223019",
"25356219"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001",
"Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HK4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4195",
"gene_name": "glucokinase",
"omim_gene": [
"138079"
],
"alias_name": [
"hexokinase 4"
],
"gene_symbol": "GCK",
"hgnc_symbol": "GCK",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:44183872-44237769",
"ensembl_id": "ENSG00000106633"
}
},
"GRch38": {
"90": {
"location": "7:44144271-44198170",
"ensembl_id": "ENSG00000106633"
}
}
},
"hgnc_date_symbol_changed": "1991-06-05"
},
"entity_type": "gene",
"entity_name": "GCK",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485",
"Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853",
"MODY, type II, OMIM:125851",
"Diabetes mellitus, permanent neonatal 1, OMIM:606176"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HNF1",
"LFB1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11621",
"gene_name": "HNF1 homeobox A",
"omim_gene": [
"142410"
],
"alias_name": null,
"gene_symbol": "HNF1A",
"hgnc_symbol": "HNF1A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:121416346-121440315",
"ensembl_id": "ENSG00000135100"
}
},
"GRch38": {
"90": {
"location": "12:120978543-121002512",
"ensembl_id": "ENSG00000135100"
}
}
},
"hgnc_date_symbol_changed": "2007-08-24"
},
"entity_type": "gene",
"entity_name": "HNF1A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Diabetes mellitus, insulin-dependent, 20, OMIM:612520",
"{Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853",
"MODY, type III, OMIM:600496"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"watchlist_moi"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"LFB3",
"VHNF1",
"HNF1beta",
"MODY5"
],
"biotype": null,
"hgnc_id": "HGNC:11630",
"gene_name": "HNF1 homeobox B",
"omim_gene": [
"189907"
],
"alias_name": null,
"gene_symbol": "HNF1B",
"hgnc_symbol": "HNF1B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:36046435-36105237",
"ensembl_id": "ENSG00000108753"
}
},
"GRch38": {
"90": {
"location": "17:37686432-37745247",
"ensembl_id": "ENSG00000275410"
}
}
},
"hgnc_date_symbol_changed": "2007-08-24"
},
"entity_type": "gene",
"entity_name": "HNF1B",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"transient neonatal diabetes mellitus (disease), MONDO:0020525",
"Type 2 diabetes mellitus, OMIM:125853",
"maturity-onset diabetes of the young (disease), MONDO:0018911"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NR2A1",
"HNF4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:5024",
"gene_name": "hepatocyte nuclear factor 4 alpha",
"omim_gene": [
"600281"
],
"alias_name": null,
"gene_symbol": "HNF4A",
"hgnc_symbol": "HNF4A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:42984340-43061485",
"ensembl_id": "ENSG00000101076"
}
},
"GRch38": {
"90": {
"location": "20:44355700-44434596",
"ensembl_id": "ENSG00000101076"
}
}
},
"hgnc_date_symbol_changed": "1998-04-20"
},
"entity_type": "gene",
"entity_name": "HNF4A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28242437"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"{Diabetes mellitus, noninsulin-dependent}, OMIM:125853",
"MODY, type I , OMIM:125850",
"Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6081",
"gene_name": "insulin",
"omim_gene": [
"176730"
],
"alias_name": null,
"gene_symbol": "INS",
"hgnc_symbol": "INS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:2181009-2182571",
"ensembl_id": "ENSG00000254647"
}
},
"GRch38": {
"90": {
"location": "11:2159779-2161341",
"ensembl_id": "ENSG00000254647"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "INS",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Maturity-onset diabetes of the young, type 10, OMIM:613370",
"Diabetes mellitus, permanent neonatal 4, OMIM:618858",
"Diabetes mellitus, insulin-dependent, 2, OMIM:125852",
"Hyperproinsulinemia, OMIM:616214"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD220"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6091",
"gene_name": "insulin receptor",
"omim_gene": [
"147670"
],
"alias_name": null,
"gene_symbol": "INSR",
"hgnc_symbol": "INSR",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:7112266-7294045",
"ensembl_id": "ENSG00000171105"
}
},
"GRch38": {
"90": {
"location": "19:7112255-7294034",
"ensembl_id": "ENSG00000171105"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "INSR",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"8288049"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549",
"Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968",
"Leprechaunism, OMIM:246200",
"Rabson-Mendenhall syndrome, OMIM:262190"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Kir6.2",
"BIR"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6257",
"gene_name": "potassium voltage-gated channel subfamily J member 11",
"omim_gene": [
"600937"
],
"alias_name": null,
"gene_symbol": "KCNJ11",
"hgnc_symbol": "KCNJ11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:17407406-17410878",
"ensembl_id": "ENSG00000187486"
}
},
"GRch38": {
"90": {
"location": "11:17385859-17389331",
"ensembl_id": "ENSG00000187486"
}
}
},
"hgnc_date_symbol_changed": "1997-09-12"
},
"entity_type": "gene",
"entity_name": "KCNJ11",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Diabetes mellitus, transient neonatal, 3, OMIM:610582",
"Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856",
"Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820",
"Maturity-onset diabetes of the young, type 13, OMIM:616329"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HGPS",
"MADA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6636",
"gene_name": "lamin A/C",
"omim_gene": [
"150330"
],
"alias_name": [
"mandibuloacral dysplasia type A"
],
"gene_symbol": "LMNA",
"hgnc_symbol": "LMNA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:156052364-156109880",
"ensembl_id": "ENSG00000160789"
}
},
"GRch38": {
"90": {
"location": "1:156082573-156140089",
"ensembl_id": "ENSG00000160789"
}
}
},
"hgnc_date_symbol_changed": "1992-04-09"
},
"entity_type": "gene",
"entity_name": "LMNA",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26775134",
"24002959"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Lipodystrophy, familial partial, type 2, OMIM:151660",
"Severe insulin resistance, partial lipodystrophy and diabetes"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TRNL1"
],
"biotype": "Mt_tRNA",
"hgnc_id": "HGNC:7490",
"gene_name": "mitochondrially encoded tRNA leucine 1 (UUA/G)",
"omim_gene": [
"590050"
],
"alias_name": null,
"gene_symbol": "MT-TL1",
"hgnc_symbol": "MT-TL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "MT:3230-3304",
"ensembl_id": "ENSG00000209082"
}
},
"GRch38": {
"90": {
"location": "MT:3230-3304",
"ensembl_id": "ENSG00000209082"
}
}
},
"hgnc_date_symbol_changed": "2005-02-16"
},
"entity_type": "gene",
"entity_name": "MT-TL1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"maternally-inherited diabetes and deafness, MONDO:0010785"
],
"mode_of_inheritance": "MITOCHONDRIAL",
"tags": [
"gene-checked"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"BETA2",
"BHF-1",
"NeuroD",
"bHLHa3",
"MODY6"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7762",
"gene_name": "neuronal differentiation 1",
"omim_gene": [
"601724"
],
"alias_name": [
"beta-cell E-box transactivator 2",
"neurogenic helix-loop-helix protein NEUROD"
],
"gene_symbol": "NEUROD1",
"hgnc_symbol": "NEUROD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:182537815-182545603",
"ensembl_id": "ENSG00000162992"
}
},
"GRch38": {
"90": {
"location": "2:181673088-181680876",
"ensembl_id": "ENSG00000162992"
}
}
},
"hgnc_date_symbol_changed": "1996-03-12"
},
"entity_type": "gene",
"entity_name": "NEUROD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26773576",
"10545951",
"26669242",
"20573748"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Maturity-onset diabetes of the young 6, OMIM:606394",
"{Type 2 diabetes mellitus, susceptibility to}, OMIM:125853"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"D11S812E",
"AN",
"WAGR"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8620",
"gene_name": "paired box 6",
"omim_gene": [
"607108"
],
"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"
},
"entity_type": "gene",
"entity_name": "PAX6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"diabetes mellitus (disease), MONDO:0005015"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PCD"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8646",
"gene_name": "pterin-4 alpha-carbinolamine dehydratase 1",
"omim_gene": [
"126090"
],
"alias_name": [
"Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)",
"pterin-4-alpha carbinolamine dehydratase",
"dimerizing cofactor for HNF1"
],
"gene_symbol": "PCBD1",
"hgnc_symbol": "PCBD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:72642037-72648541",
"ensembl_id": "ENSG00000166228"
}
},
"GRch38": {
"90": {
"location": "10:70882280-70888784",
"ensembl_id": "ENSG00000166228"
}
}
},
"hgnc_date_symbol_changed": "2005-02-11"
},
"entity_type": "gene",
"entity_name": "PCBD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24204001",
"24848070"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"IDX-1",
"STF-1",
"PDX-1",
"MODY4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6107",
"gene_name": "pancreatic and duodenal homeobox 1",
"omim_gene": [
"600733"
],
"alias_name": [
"somatostatin transcription factor 1"
],
"gene_symbol": "PDX1",
"hgnc_symbol": "PDX1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"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"
},
"entity_type": "gene",
"entity_name": "PDX1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Pancreatic agenesis 1, OMIM:260370",
"MODY, type IV, OMIM:606392"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GRB1",
"p85-ALPHA",
"p85"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8979",
"gene_name": "phosphoinositide-3-kinase regulatory subunit 1",
"omim_gene": [
"171833"
],
"alias_name": [
"phosphoinositide-3-kinase regulatory subunit alpha"
],
"gene_symbol": "PIK3R1",
"hgnc_symbol": "PIK3R1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:67511548-67597649",
"ensembl_id": "ENSG00000145675"
}
},
"GRch38": {
"90": {
"location": "5:68215720-68301821",
"ensembl_id": "ENSG00000145675"
}
}
},
"hgnc_date_symbol_changed": "1992-12-08"
},
"entity_type": "gene",
"entity_name": "PIK3R1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "Other - please provide details in the comments",
"publications": [
"23810378"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"SHORT syndrome, OMIM:269880"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9076",
"gene_name": "perilipin 1",
"omim_gene": [
"170290"
],
"alias_name": null,
"gene_symbol": "PLIN1",
"hgnc_symbol": "PLIN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:90207596-90222658",
"ensembl_id": "ENSG00000166819"
}
},
"GRch38": {
"90": {
"location": "15:89664365-89679427",
"ensembl_id": "ENSG00000166819"
}
}
},
"hgnc_date_symbol_changed": "2009-08-12"
},
"entity_type": "gene",
"entity_name": "PLIN1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"publications": [
"21345103",
"30020498",
"11371650",
"25695774",
"25114292",
"29747582"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Lipodystrophy, familial partial, type 4, OMIM:613877"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CDC2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9175",
"gene_name": "DNA polymerase delta 1, catalytic subunit",
"omim_gene": [
"174761"
],
"alias_name": [
"CDC2 homolog (S. cerevisiae)"
],
"gene_symbol": "POLD1",
"hgnc_symbol": "POLD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:50887461-50921273",
"ensembl_id": "ENSG00000062822"
}
},
"GRch38": {
"90": {
"location": "19:50384204-50418018",
"ensembl_id": "ENSG00000062822"
}
}
},
"hgnc_date_symbol_changed": "1992-02-06"
},
"entity_type": "gene",
"entity_name": "POLD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"publications": [
"23770608"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PPARG1",
"PPARG2",
"NR1C3",
"PPARgamma"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9236",
"gene_name": "peroxisome proliferator activated receptor gamma",
"omim_gene": [
"601487"
],
"alias_name": null,
"gene_symbol": "PPARG",
"hgnc_symbol": "PPARG",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:12328867-12475855",
"ensembl_id": "ENSG00000132170"
}
},
"GRch38": {
"90": {
"location": "3:12287368-12434356",
"ensembl_id": "ENSG00000132170"
}
}
},
"hgnc_date_symbol_changed": "1996-03-12"
},
"entity_type": "gene",
"entity_name": "PPARG",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Lipodystrophy, familial partial, type 3, OMIM:604367",
"Insulin resistance, severe, digenic, OMIM:604367",
"Obesity, severe, OMIM:601665",
"{Diabetes, type 2}, OMIM:125853"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ14744"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14951",
"gene_name": "protein phosphatase 1 regulatory subunit 15B",
"omim_gene": [
"613257"
],
"alias_name": null,
"gene_symbol": "PPP1R15B",
"hgnc_symbol": "PPP1R15B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:204372515-204380919",
"ensembl_id": "ENSG00000158615"
}
},
"GRch38": {
"90": {
"location": "1:204403387-204411791",
"ensembl_id": "ENSG00000158615"
}
}
},
"hgnc_date_symbol_changed": "2001-06-29"
},
"entity_type": "gene",
"entity_name": "PPP1R15B",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC33442",
"dJ955L16.1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:21478",
"gene_name": "regulatory factor X6",
"omim_gene": [
"612659"
],
"alias_name": [
"DNA-binding protein RFX6"
],
"gene_symbol": "RFX6",
"hgnc_symbol": "RFX6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:117198375-117253326",
"ensembl_id": "ENSG00000185002"
}
},
"GRch38": {
"90": {
"location": "6:116877212-116932163",
"ensembl_id": "ENSG00000185002"
}
}
},
"hgnc_date_symbol_changed": "2008-08-04"
},
"entity_type": "gene",
"entity_name": "RFX6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25048417",
"26770845",
"26761945",
"27185633",
"26559129",
"26264437",
"27167055"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Mitchell-Riley syndrome, OMIM:615710"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ENT3",
"FLJ11160"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23096",
"gene_name": "solute carrier family 29 member 3",
"omim_gene": [
"612373"
],
"alias_name": null,
"gene_symbol": "SLC29A3",
"hgnc_symbol": "SLC29A3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:73079015-73123142",
"ensembl_id": "ENSG00000198246"
}
},
"GRch38": {
"90": {
"location": "10:71319258-71363385",
"ensembl_id": "ENSG00000198246"
}
}
},
"hgnc_date_symbol_changed": "2003-10-08"
},
"entity_type": "gene",
"entity_name": "SLC29A3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19336477"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC27034",
"TRM10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28403",
"gene_name": "tRNA methyltransferase 10A",
"omim_gene": [
"616013"
],
"alias_name": null,
"gene_symbol": "TRMT10A",
"hgnc_symbol": "TRMT10A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:100467866-100485189",
"ensembl_id": "ENSG00000145331"
}
},
"GRch38": {
"90": {
"location": "4:99546709-99564032",
"ensembl_id": "ENSG00000145331"
}
}
},
"hgnc_date_symbol_changed": "2012-06-28"
},
"entity_type": "gene",
"entity_name": "TRMT10A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26297882",
"24204302"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DIDMOAD",
"WFS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12762",
"gene_name": "wolframin ER transmembrane glycoprotein",
"omim_gene": [
"606201"
],
"alias_name": null,
"gene_symbol": "WFS1",
"hgnc_symbol": "WFS1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:6271576-6304992",
"ensembl_id": "ENSG00000109501"
}
},
"GRch38": {
"90": {
"location": "4:6269849-6303265",
"ensembl_id": "ENSG00000109501"
}
}
},
"hgnc_date_symbol_changed": "1995-01-30"
},
"entity_type": "gene",
"entity_name": "WFS1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27217304",
"27185633",
"33693650"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Wolfram-like syndrome, autosomal dominant, OMIM:614296",
"Wolfram syndrome 1, OMIM:222300",
"{Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ODA-8S",
"DKFZp566F123",
"DPZF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13503",
"gene_name": "zinc finger and BTB domain containing 20",
"omim_gene": [
"606025"
],
"alias_name": null,
"gene_symbol": "ZBTB20",
"hgnc_symbol": "ZBTB20",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:114056941-114866118",
"ensembl_id": "ENSG00000181722"
}
},
"GRch38": {
"90": {
"location": "3:114314501-115147271",
"ensembl_id": "ENSG00000181722"
}
}
},
"hgnc_date_symbol_changed": "2004-07-16"
},
"entity_type": "gene",
"entity_name": "ZBTB20",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25017102",
"20644156"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"diabetes mellitus (disease), MONDO:0005015"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ZNF698",
"bA145L22",
"bA145L22.2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18791",
"gene_name": "ZFP57 zinc finger protein",
"omim_gene": [
"612192"
],
"alias_name": null,
"gene_symbol": "ZFP57",
"hgnc_symbol": "ZFP57",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:29640169-29648887",
"ensembl_id": "ENSG00000204644"
}
},
"GRch38": {
"90": {
"location": "6:29672392-29681110",
"ensembl_id": "ENSG00000204644"
}
}
},
"hgnc_date_symbol_changed": "2005-07-20"
},
"entity_type": "gene",
"entity_name": "ZFP57",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"transient neonatal diabetes mellitus (disease), MONDO:0020525",
"Diabetes mellitus, transient neonatal, 1, OMIM:601410"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FACE-1",
"Ste24p",
"STE24",
"HGPS",
"PRO1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12877",
"gene_name": "zinc metallopeptidase STE24",
"omim_gene": [
"606480"
],
"alias_name": [
"Hutchinson-Gilford progeria syndrome",
"CAAX prenyl protease 1 homolog"
],
"gene_symbol": "ZMPSTE24",
"hgnc_symbol": "ZMPSTE24",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:40723779-40759856",
"ensembl_id": "ENSG00000084073"
}
},
"GRch38": {
"90": {
"location": "1:40258107-40294184",
"ensembl_id": "ENSG00000084073"
}
}
},
"hgnc_date_symbol_changed": "1999-09-17"
},
"entity_type": "gene",
"entity_name": "ZMPSTE24",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18435794",
"16297189",
"20034068",
"12913070",
"15317753"
],
"evidence": [
"Expert Review Green"
],
"phenotypes": [
"Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"dUTPase"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3078",
"gene_name": "deoxyuridine triphosphatase",
"omim_gene": [
"601266"
],
"alias_name": [
"dUTP diphosphatase"
],
"gene_symbol": "DUT",
"hgnc_symbol": "DUT",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:48623208-48635570",
"ensembl_id": "ENSG00000128951"
}
},
"GRch38": {
"90": {
"location": "15:48331011-48343373",
"ensembl_id": "ENSG00000128951"
}
}
},
"hgnc_date_symbol_changed": "1995-09-28"
},
"entity_type": "gene",
"entity_name": "DUT",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"28073829",
"35611808",
"35931051"
],
"evidence": [
"Literature",
"Expert Review Amber"
],
"phenotypes": [
"Bone marrow failure and diabetes mellitus syndrome, OMIM:620044"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q4_23_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ20297",
"FLJ20756",
"nSMase-3",
"KIAA1418",
"NSMASE3",
"NET13"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:32949",
"gene_name": "sphingomyelin phosphodiesterase 4",
"omim_gene": [
"610457"
],
"alias_name": [
"neutral sphingomyelinase-3"
],
"gene_symbol": "SMPD4",
"hgnc_symbol": "SMPD4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:130908981-130940323",
"ensembl_id": "ENSG00000136699"
}
},
"GRch38": {
"90": {
"location": "2:130151392-130182750",
"ensembl_id": "ENSG00000136699"
}
}
},
"hgnc_date_symbol_changed": "2006-07-12"
},
"entity_type": "gene",
"entity_name": "SMPD4",
"confidence_level": "2",
"penetrance": "Complete",
"mode_of_pathogenicity": null,
"publications": [
"36732302"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622",
"type 1 diabetes mellitus, MONDO:0005147"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q1_24_promote_green"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"ADHAPS",
"ADAS",
"ALDHPSY",
"ADPS",
"ADAP-S"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:327",
"gene_name": "alkylglycerone phosphate synthase",
"omim_gene": [
"603051"
],
"alias_name": null,
"gene_symbol": "AGPS",
"hgnc_symbol": "AGPS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:178257372-178408564",
"ensembl_id": "ENSG00000018510"
}
},
"GRch38": {
"90": {
"location": "2:177392644-177559299",
"ensembl_id": "ENSG00000018510"
}
}
},
"hgnc_date_symbol_changed": "1998-10-14"
},
"entity_type": "gene",
"entity_name": "AGPS",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red"
],
"phenotypes": [
"Lipodystrophy, congenital generalized, type 1, 608594"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1527",
"gene_name": "caveolin 1",
"omim_gene": [
"601047"
],
"alias_name": null,
"gene_symbol": "CAV1",
"hgnc_symbol": "CAV1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:116164839-116201233",
"ensembl_id": "ENSG00000105974"
}
},
"GRch38": {
"90": {
"location": "7:116524785-116561184",
"ensembl_id": "ENSG00000105974"
}
}
},
"hgnc_date_symbol_changed": "1993-11-02"
},
"entity_type": "gene",
"entity_name": "CAV1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18211975"
],
"evidence": [
"Expert Review Red"
],
"phenotypes": [
"Lipodystrophy, congenital generalized, type 3, 612526",
"Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome"
],
"mode_of_inheritance": "Unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CIDE-3",
"FLJ20871",
"Fsp27"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24229",
"gene_name": "cell death inducing DFFA like effector c",
"omim_gene": [
"612120"
],
"alias_name": null,
"gene_symbol": "CIDEC",
"hgnc_symbol": "CIDEC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:9908398-9921938",
"ensembl_id": "ENSG00000187288"
}
},
"GRch38": {
"90": {
"location": "3:9866711-9880254",
"ensembl_id": "ENSG00000187288"
}
}
},
"hgnc_date_symbol_changed": "2004-07-26"
},
"entity_type": "gene",
"entity_name": "CIDEC",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20049731"
],
"evidence": [
"Expert Review Red"
],
"phenotypes": [
"Lipodystrophy, familial partial, type 5"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"LPAAT-beta"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:325",
"gene_name": "1-acylglycerol-3-phosphate O-acyltransferase 2",
"omim_gene": [
"603100"
],
"alias_name": [
"lysophosphatidic acid acyltransferase, beta"
],
"gene_symbol": "AGPAT2",
"hgnc_symbol": "AGPAT2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:139567595-139581875",
"ensembl_id": "ENSG00000169692"
}
},
"GRch38": {
"90": {
"location": "9:136673143-136687423",
"ensembl_id": "ENSG00000169692"
}
}
},
"hgnc_date_symbol_changed": "1999-12-07"
},
"entity_type": "gene",
"entity_name": "AGPAT2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"PubMed PMID: 11967537, PubMed PMID: 12765973."
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Lipodystrophy, congenital generalized, type 1, 608594",
"lipodystrophy"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0328"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:428",
"gene_name": "ALMS1, centrosome and basal body associated protein",
"omim_gene": [
"606844"
],
"alias_name": null,
"gene_symbol": "ALMS1",
"hgnc_symbol": "ALMS1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:73612886-73837920",
"ensembl_id": "ENSG00000116127"
}
},
"GRch38": {
"90": {
"location": "2:73385758-73610793",
"ensembl_id": "ENSG00000116127"
}
}
},
"hgnc_date_symbol_changed": "1998-10-12"
},
"entity_type": "gene",
"entity_name": "ALMS1",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Alstrom syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC10442"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1057",
"gene_name": "BLK proto-oncogene, Src family tyrosine kinase",
"omim_gene": [
"191305"
],
"alias_name": null,
"gene_symbol": "BLK",
"hgnc_symbol": "BLK",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:11351510-11422113",
"ensembl_id": "ENSG00000136573"
}
},
"GRch38": {
"90": {
"location": "8:11494001-11564604",
"ensembl_id": "ENSG00000136573"
}
}
},
"hgnc_date_symbol_changed": "1995-05-17"
},
"entity_type": "gene",
"entity_name": "BLK",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"35108381"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Maturity-onset diabetes of the young, type 11, 613375",
"Maturity Onset Diabetes of the Young"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"BS",
"RECQL3",
"RECQ2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1058",
"gene_name": "Bloom syndrome RecQ like helicase",
"omim_gene": [
"604610"
],
"alias_name": null,
"gene_symbol": "BLM",
"hgnc_symbol": "BLM",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:91260558-91358859",
"ensembl_id": "ENSG00000197299"
}
},
"GRch38": {
"90": {
"location": "15:90717327-90816165",
"ensembl_id": "ENSG00000197299"
}
}
},
"hgnc_date_symbol_changed": "1992-11-06"
},
"entity_type": "gene",
"entity_name": "BLM",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Bloom syndrome, OMIM:210900"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15832",
"gene_name": "BSCL2, seipin lipid droplet biogenesis associated",
"omim_gene": [
"606158"
],
"alias_name": null,
"gene_symbol": "BSCL2",
"hgnc_symbol": "BSCL2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:62457747-62477317",
"ensembl_id": "ENSG00000168000"
}
},
"GRch38": {
"90": {
"location": "11:62690275-62709845",
"ensembl_id": "ENSG00000168000"
}
}
},
"hgnc_date_symbol_changed": "2001-07-02"
},
"entity_type": "gene",
"entity_name": "BSCL2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11479539"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Lipodystrophy, congenital generalized, type 2, OMIM:269700"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"cavin-1",
"CGL4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9688",
"gene_name": "caveolae associated protein 1",
"omim_gene": [
"603198"
],
"alias_name": [
"congenital generalized lipodystrophy 4"
],
"gene_symbol": "CAVIN1",
"hgnc_symbol": "CAVIN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:40554470-40575535",
"ensembl_id": "ENSG00000177469"
}
},
"GRch38": {
"90": {
"location": "17:42402452-42423517",
"ensembl_id": "ENSG00000177469"
}
}
},
"hgnc_date_symbol_changed": "2017-03-24"
},
"entity_type": "gene",
"entity_name": "CAVIN1",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19726876"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Lipodystrophy, congenital generalized, type 4, 613327"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"RC3",
"KIAA0856",
"DFNA71"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2938",
"gene_name": "Dmx like 2",
"omim_gene": [
"612186"
],
"alias_name": [
"rabconnectin 3"
],
"gene_symbol": "DMXL2",
"hgnc_symbol": "DMXL2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:51739908-51915030",
"ensembl_id": "ENSG00000104093"
}
},
"GRch38": {
"90": {
"location": "15:51447711-51622833",
"ensembl_id": "ENSG00000104093"
}
}
},
"hgnc_date_symbol_changed": "1998-04-27"
},
"entity_type": "gene",
"entity_name": "DMXL2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22875945",
"27657680",
"25248098"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"ORPHA90636",
"OMIM:612186",
"Sensorineural Hearing Loss"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"PEK",
"PERK"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3255",
"gene_name": "eukaryotic translation initiation factor 2 alpha kinase 3",
"omim_gene": [
"604032"
],
"alias_name": null,
"gene_symbol": "EIF2AK3",
"hgnc_symbol": "EIF2AK3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:88856259-88927094",
"ensembl_id": "ENSG00000172071"
}
},
"GRch38": {
"90": {
"location": "2:88556741-88627576",
"ensembl_id": "ENSG00000172071"
}
}
},
"hgnc_date_symbol_changed": "1999-06-14"
},
"entity_type": "gene",
"entity_name": "EIF2AK3",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Wolcott-Rallison syndrome",
"Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"PC-1",
"PCA1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3356",
"gene_name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
"omim_gene": [
"173335"
],
"alias_name": null,
"gene_symbol": "ENPP1",
"hgnc_symbol": "ENPP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:132129156-132216295",
"ensembl_id": "ENSG00000197594"
}
},
"GRch38": {
"90": {
"location": "6:131808016-131895155",
"ensembl_id": "ENSG00000197594"
}
}
},
"hgnc_date_symbol_changed": "1992-12-08"
},
"entity_type": "gene",
"entity_name": "ENPP1",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos"
],
"mode_of_inheritance": "Unknown",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"CEK2",
"JTK4",
"CD333"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3690",
"gene_name": "fibroblast growth factor receptor 3",
"omim_gene": [
"134934"
],
"alias_name": null,
"gene_symbol": "FGFR3",
"hgnc_symbol": "FGFR3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:1795034-1810599",
"ensembl_id": "ENSG00000068078"
}
},
"GRch38": {
"90": {
"location": "4:1793307-1808872",
"ensembl_id": "ENSG00000068078"
}
}
},
"hgnc_date_symbol_changed": "1991-06-07"
},
"entity_type": "gene",
"entity_name": "FGFR3",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Hypochondroplasia, 146000",
"Crouzon syndrome with acanthosis nigricans, 612247"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"MFH-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3801",
"gene_name": "forkhead box C2",
"omim_gene": [
"602402"
],
"alias_name": [
"mesenchyme forkhead 1"
],
"gene_symbol": "FOXC2",
"hgnc_symbol": "FOXC2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:86600857-86602539",
"ensembl_id": "ENSG00000176692"
}
},
"GRch38": {
"90": {
"location": "16:86567251-86569728",
"ensembl_id": "ENSG00000176692"
}
}
},
"hgnc_date_symbol_changed": "1997-02-14"
},
"entity_type": "gene",
"entity_name": "FOXC2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400",
"Lymphedema-distichiasis syndrome, 153400"
],
"mode_of_inheritance": "Unknown",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"JM2",
"XPID",
"AIID",
"PIDX",
"DIETER",
"SCURFIN"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6106",
"gene_name": "forkhead box P3",
"omim_gene": [
"300292"
],
"alias_name": null,
"gene_symbol": "FOXP3",
"hgnc_symbol": "FOXP3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:49106897-49121288",
"ensembl_id": "ENSG00000049768"
}
},
"GRch38": {
"90": {
"location": "X:49250436-49264826",
"ensembl_id": "ENSG00000049768"
}
}
},
"hgnc_date_symbol_changed": "2002-09-20"
},
"entity_type": "gene",
"entity_name": "FOXP3",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"{Diabetes mellitus, type I, susceptibility to}, 222100",
"Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790",
"IPEX syndrome"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC33662"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28510",
"gene_name": "GLIS family zinc finger 3",
"omim_gene": [
"610192"
],
"alias_name": null,
"gene_symbol": "GLIS3",
"hgnc_symbol": "GLIS3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:3824127-4348392",
"ensembl_id": "ENSG00000107249"
}
},
"GRch38": {
"90": {
"location": "9:3824127-4348392",
"ensembl_id": "ENSG00000107249"
}
}
},
"hgnc_date_symbol_changed": "2004-07-16"
},
"entity_type": "gene",
"entity_name": "GLIS3",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism",
"Neonatal Diabetes mellitus with congenital hypothyroidism",
"Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism",
"Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"LEAP-1",
"HEPC",
"HFE2B",
"LEAP1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15598",
"gene_name": "hepcidin antimicrobial peptide",
"omim_gene": [
"606464"
],
"alias_name": null,
"gene_symbol": "HAMP",
"hgnc_symbol": "HAMP",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:35771619-35776046",
"ensembl_id": "ENSG00000105697"
}
},
"GRch38": {
"90": {
"location": "19:35280716-35285143",
"ensembl_id": "ENSG00000105697"
}
}
},
"hgnc_date_symbol_changed": "2001-05-29"
},
"entity_type": "gene",
"entity_name": "HAMP",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Hemochromatosis, type 2B 613313"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"HLA-H"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4886",
"gene_name": "hemochromatosis",
"omim_gene": [
"613609"
],
"alias_name": [
"high Fe"
],
"gene_symbol": "HFE",
"hgnc_symbol": "HFE",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:26087509-26098571",
"ensembl_id": "ENSG00000010704"
}
},
"GRch38": {
"90": {
"location": "6:26087281-26098343",
"ensembl_id": "ENSG00000010704"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "HFE",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"{Alzheimer disease, susceptibility to}, 104300",
"Hemochromatosis, 235200",
"{Microvascular complications of diabetes 7}, 612635",
"{Porphyria variegata, susceptibility to}, 176200",
"{Porphyria cutanea tarda, susceptibility to}, 176100"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"JH",
"HFE2A",
"RGMC",
"HJV",
"hemojuvelin",
"haemojuvelin"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4887",
"gene_name": "hemochromatosis type 2 (juvenile)",
"omim_gene": [
"608374"
],
"alias_name": [
"repulsive guidance molecule c"
],
"gene_symbol": "HFE2",
"hgnc_symbol": "HFE2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:145413095-145417545",
"ensembl_id": "ENSG00000168509"
}
},
"GRch38": {
"90": {
"location": "1:146017468-146036746",
"ensembl_id": "ENSG00000168509"
}
}
},
"hgnc_date_symbol_changed": "1999-05-25"
},
"entity_type": "gene",
"entity_name": "HFE2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Hemochromatosis, type 2A, 602390"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"new-gene-name",
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18550",
"gene_name": "immediate early response 3 interacting protein 1",
"omim_gene": [
"609382"
],
"alias_name": null,
"gene_symbol": "IER3IP1",
"hgnc_symbol": "IER3IP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:44681413-44702745",
"ensembl_id": "ENSG00000134049"
}
},
"GRch38": {
"90": {
"location": "18:47152834-47176374",
"ensembl_id": "ENSG00000134049"
}
}
},
"hgnc_date_symbol_changed": "2005-01-18"
},
"entity_type": "gene",
"entity_name": "IER3IP1",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21835305",
"24138066",
"22991235"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Microcephaly, epilepsy, and diabetes syndrome, 614231",
"Microcephaly, epilepsy, and diabetes syndrome",
"Microcephaly, epilepsy and diabetes syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD25"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6008",
"gene_name": "interleukin 2 receptor subunit alpha",
"omim_gene": [
"147730"
],
"alias_name": null,
"gene_symbol": "IL2RA",
"hgnc_symbol": "IL2RA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:6052652-6104288",
"ensembl_id": "ENSG00000134460"
}
},
"GRch38": {
"90": {
"location": "10:6010689-6062325",
"ensembl_id": "ENSG00000134460"
}
}
},
"hgnc_date_symbol_changed": "1990-01-22"
},
"entity_type": "gene",
"entity_name": "IL2RA",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17196245"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"Tieg3",
"MODY7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11811",
"gene_name": "Kruppel like factor 11",
"omim_gene": [
"603301"
],
"alias_name": null,
"gene_symbol": "KLF11",
"hgnc_symbol": "KLF11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:10182976-10194963",
"ensembl_id": "ENSG00000172059"
}
},
"GRch38": {
"90": {
"location": "2:10042849-10054836",
"ensembl_id": "ENSG00000172059"
}
}
},
"hgnc_date_symbol_changed": "2004-12-01"
},
"entity_type": "gene",
"entity_name": "KLF11",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"35108381"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Maturity-onset diabetes of the young, type VII, 610508",
"Maturity Onset Diabetes of the Young"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"HL",
"HTGL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6619",
"gene_name": "lipase C, hepatic type",
"omim_gene": [
"151670"
],
"alias_name": [
"Triacylglycerol lipase"
],
"gene_symbol": "LIPC",
"hgnc_symbol": "LIPC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:58702768-58861151",
"ensembl_id": "ENSG00000166035"
}
},
"GRch38": {
"90": {
"location": "15:58410569-58569843",
"ensembl_id": "ENSG00000166035"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "LIPC",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Hepatic lipase deficiency, 614025",
"[High density lipoprotein cholesterol level QTL 12], 612797",
"{Diabetes mellitus, noninsulin-dependent}, 125853"
],
"mode_of_inheritance": "Unknown",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"BGL",
"LAB300",
"LBA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1742",
"gene_name": "LPS responsive beige-like anchor protein",
"omim_gene": [
"606453"
],
"alias_name": null,
"gene_symbol": "LRBA",
"hgnc_symbol": "LRBA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:151185594-151936879",
"ensembl_id": "ENSG00000198589"
}
},
"GRch38": {
"90": {
"location": "4:150264531-151015727",
"ensembl_id": "ENSG00000198589"
}
}
},
"hgnc_date_symbol_changed": "2001-10-05"
},
"entity_type": "gene",
"entity_name": "LRBA",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25468195",
"25479458",
"26745254",
"26206937",
"27057999"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Immunodeficiency, common variable, 8, with autoimmunity"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"HB9",
"HOXHB9",
"SCRA1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4979",
"gene_name": "motor neuron and pancreas homeobox 1",
"omim_gene": [
"142994"
],
"alias_name": null,
"gene_symbol": "MNX1",
"hgnc_symbol": "MNX1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:156786745-156803345",
"ensembl_id": "ENSG00000130675"
}
},
"GRch38": {
"90": {
"location": "7:156994051-157010651",
"ensembl_id": "ENSG00000130675"
}
}
},
"hgnc_date_symbol_changed": "2007-08-09"
},
"entity_type": "gene",
"entity_name": "MNX1",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24411943",
"23562494",
"26534984"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"Atoh5",
"Math4B",
"ngn3",
"bHLHa7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13806",
"gene_name": "neurogenin 3",
"omim_gene": [
"604882"
],
"alias_name": null,
"gene_symbol": "NEUROG3",
"hgnc_symbol": "NEUROG3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:71331454-71332994",
"ensembl_id": "ENSG00000122859"
}
},
"GRch38": {
"90": {
"location": "10:69571698-69573238",
"ensembl_id": "ENSG00000122859"
}
}
},
"hgnc_date_symbol_changed": "2000-11-28"
},
"entity_type": "gene",
"entity_name": "NEUROG3",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26288179",
"25650326",
"Rubio-Cabezas et al 2011 Diabetes 60:1349-1353"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Permanent neonatal diabetes and enteric anendocrinosis"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"NKX2.2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7835",
"gene_name": "NK2 homeobox 2",
"omim_gene": [
"604612"
],
"alias_name": null,
"gene_symbol": "NKX2-2",
"hgnc_symbol": "NKX2-2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:21491648-21494664",
"ensembl_id": "ENSG00000125820"
}
},
"GRch38": {
"90": {
"location": "20:21511010-21514026",
"ensembl_id": "ENSG00000125820"
}
}
},
"hgnc_date_symbol_changed": "2002-10-04"
},
"entity_type": "gene",
"entity_name": "NKX2-2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24411943"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ32440",
"MMS21",
"NSE2",
"ZMIZ7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26513",
"gene_name": "NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase",
"omim_gene": [
"617246"
],
"alias_name": [
"zinc finger, MIZ-type containing 7"
],
"gene_symbol": "NSMCE2",
"hgnc_symbol": "NSMCE2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:126103921-126379362",
"ensembl_id": "ENSG00000156831"
}
},
"GRch38": {
"90": {
"location": "8:125091679-125367120",
"ensembl_id": "ENSG00000156831"
}
}
},
"hgnc_date_symbol_changed": "2006-07-05"
},
"entity_type": "gene",
"entity_name": "NSMCE2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25105364"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Dwarfism with extreme insulin resistance and acanthosis nigricans"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"MODY9"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8618",
"gene_name": "paired box 4",
"omim_gene": [
"167413"
],
"alias_name": null,
"gene_symbol": "PAX4",
"hgnc_symbol": "PAX4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:127250346-127255982",
"ensembl_id": "ENSG00000106331"
}
},
"GRch38": {
"90": {
"location": "7:127610292-127618114",
"ensembl_id": "ENSG00000106331"
}
}
},
"hgnc_date_symbol_changed": "1993-04-07"
},
"entity_type": "gene",
"entity_name": "PAX4",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"35108381"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Maturity-onset diabetes of the young, type IX, 612225",
"Diabetes mellitus, type 2, 125853",
"Diabetes mellitus, ketosis-prone, 612227",
"Maturity Onset Diabetes of the Young"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"KEN",
"KIAA0402",
"PCN",
"PCNTB",
"SCKL4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16068",
"gene_name": "pericentrin",
"omim_gene": [
"605925"
],
"alias_name": [
"kendrin",
"Seckel syndrome 4"
],
"gene_symbol": "PCNT",
"hgnc_symbol": "PCNT",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "21:47744036-47865682",
"ensembl_id": "ENSG00000160299"
}
},
"GRch38": {
"90": {
"location": "21:46324122-46445769",
"ensembl_id": "ENSG00000160299"
}
}
},
"hgnc_date_symbol_changed": "2005-11-03"
},
"entity_type": "gene",
"entity_name": "PCNT",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21270239"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Microcephalic osteodysplastic primordial dwarfism, type II"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"CT",
"CTPCT"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8754",
"gene_name": "phosphate cytidylyltransferase 1, choline, alpha",
"omim_gene": [
"123695"
],
"alias_name": [
"phosphate cytidylyltransferase 1, choline, alpha isoform"
],
"gene_symbol": "PCYT1A",
"hgnc_symbol": "PCYT1A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:195941093-196014828",
"ensembl_id": "ENSG00000161217"
}
},
"GRch38": {
"90": {
"location": "3:196214222-196287957",
"ensembl_id": "ENSG00000161217"
}
}
},
"hgnc_date_symbol_changed": "1999-05-05"
},
"entity_type": "gene",
"entity_name": "PCYT1A",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24889630"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Spondylometaphyseal dysplasia with cone-rod dystrophy"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZP434C245"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24488",
"gene_name": "POC1 centriolar protein A",
"omim_gene": [
"614783"
],
"alias_name": null,
"gene_symbol": "POC1A",
"hgnc_symbol": "POC1A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:52109269-52188706",
"ensembl_id": "ENSG00000164087"
}
},
"GRch38": {
"90": {
"location": "3:52075253-52154690",
"ensembl_id": "ENSG00000164087"
}
}
},
"hgnc_date_symbol_changed": "2010-03-26"
},
"entity_type": "gene",
"entity_name": "POC1A",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26336158"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"GM"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9291",
"gene_name": "protein phosphatase 1 regulatory subunit 3A",
"omim_gene": [
"600917"
],
"alias_name": [
"glycogen-associated regulatory subunit of protein phosphatase-1",
"protein phosphatase 1 regulatory subunit GM"
],
"gene_symbol": "PPP1R3A",
"hgnc_symbol": "PPP1R3A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:113516832-113715975",
"ensembl_id": "ENSG00000154415"
}
},
"GRch38": {
"90": {
"location": "7:113876777-114075920",
"ensembl_id": "ENSG00000154415"
}
}
},
"hgnc_date_symbol_changed": "2001-07-02"
},
"entity_type": "gene",
"entity_name": "PPP1R3A",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Insulin resistance, severe, digenic"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"RING10",
"D6S216E",
"PSMB5i",
"beta5i"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9545",
"gene_name": "proteasome subunit beta 8",
"omim_gene": [
"177046"
],
"alias_name": null,
"gene_symbol": "PSMB8",
"hgnc_symbol": "PSMB8",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:32808494-32812480",
"ensembl_id": "ENSG00000204264"
}
},
"GRch38": {
"90": {
"location": "6:32840717-32844703",
"ensembl_id": "ENSG00000204264"
}
}
},
"hgnc_date_symbol_changed": "1992-06-25"
},
"entity_type": "gene",
"entity_name": "PSMB8",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"PTF1-p48",
"bHLHa29"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23734",
"gene_name": "pancreas specific transcription factor, 1a",
"omim_gene": [
"607194"
],
"alias_name": null,
"gene_symbol": "PTF1A",
"hgnc_symbol": "PTF1A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:23481256-23483181",
"ensembl_id": "ENSG00000168267"
}
},
"GRch38": {
"90": {
"location": "10:23192327-23194252",
"ensembl_id": "ENSG00000168267"
}
}
},
"hgnc_date_symbol_changed": "2003-12-04"
},
"entity_type": "gene",
"entity_name": "PTF1A",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Permanent neonatal diabetes mellitus (PNDM)",
"Permanent neonatal diabetes with cerebellar agenesis",
"Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"THTR1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10938",
"gene_name": "solute carrier family 19 member 2",
"omim_gene": [
"603941"
],
"alias_name": null,
"gene_symbol": "SLC19A2",
"hgnc_symbol": "SLC19A2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:169433147-169455241",
"ensembl_id": "ENSG00000117479"
}
},
"GRch38": {
"90": {
"location": "1:169463909-169486003",
"ensembl_id": "ENSG00000117479"
}
}
},
"hgnc_date_symbol_changed": "1999-04-09"
},
"entity_type": "gene",
"entity_name": "SLC19A2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26549656",
"26839896"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Thiamine-responsive megaloblastic anemia syndrome",
"MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11006",
"gene_name": "solute carrier family 2 member 2",
"omim_gene": [
"138160"
],
"alias_name": null,
"gene_symbol": "SLC2A2",
"hgnc_symbol": "SLC2A2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:170714137-170744539",
"ensembl_id": "ENSG00000163581"
}
},
"GRch38": {
"90": {
"location": "3:170996348-171026750",
"ensembl_id": "ENSG00000163581"
}
}
},
"hgnc_date_symbol_changed": "1989-01-13"
},
"entity_type": "gene",
"entity_name": "SLC2A2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22831748",
"PMID: 23456528",
"22660720"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"{Diabetes mellitus, noninsulin-dependent}",
"Fanconi-Bickel syndrome",
"Fanconi-Bickel syndrome, 227810"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"MTP1",
"IREG1",
"FPN1",
"HFE4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10909",
"gene_name": "solute carrier family 40 member 1",
"omim_gene": [
"604653"
],
"alias_name": [
"ferroportin 1"
],
"gene_symbol": "SLC40A1",
"hgnc_symbol": "SLC40A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:190425305-190448484",
"ensembl_id": "ENSG00000138449"
}
},
"GRch38": {
"90": {
"location": "2:189560579-189583758",
"ensembl_id": "ENSG00000138449"
}
}
},
"hgnc_date_symbol_changed": "2003-06-05"
},
"entity_type": "gene",
"entity_name": "SLC40A1",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Hemochromatosis, type 4 606069"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"STAT91",
"ISGF-3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11362",
"gene_name": "signal transducer and activator of transcription 1",
"omim_gene": [
"600555"
],
"alias_name": [
"transcription factor ISGF-3 components p91/p84"
],
"gene_symbol": "STAT1",
"hgnc_symbol": "STAT1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:191829084-191885686",
"ensembl_id": "ENSG00000115415"
}
},
"GRch38": {
"90": {
"location": "2:190964358-191020960",
"ensembl_id": "ENSG00000115415"
}
}
},
"hgnc_date_symbol_changed": "1995-11-08"
},
"entity_type": "gene",
"entity_name": "STAT1",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"publications": [
"23534974"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"APRF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11364",
"gene_name": "signal transducer and activator of transcription 3",
"omim_gene": [
"102582"
],
"alias_name": null,
"gene_symbol": "STAT3",
"hgnc_symbol": "STAT3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:40465342-40540586",
"ensembl_id": "ENSG00000168610"
}
},
"GRch38": {
"90": {
"location": "17:42313324-42388568",
"ensembl_id": "ENSG00000168610"
}
}
},
"hgnc_date_symbol_changed": "1995-11-08"
},
"entity_type": "gene",
"entity_name": "STAT3",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"publications": [
"27167055",
"Flanagan et al 2014 Nature Genetics (In press)"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Neonatal diabetes and additional multi-organ autoimmunity"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"HFE3",
"TFRC2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11762",
"gene_name": "transferrin receptor 2",
"omim_gene": [
"604720"
],
"alias_name": null,
"gene_symbol": "TFR2",
"hgnc_symbol": "TFR2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:100218039-100240402",
"ensembl_id": "ENSG00000106327"
}
},
"GRch38": {
"90": {
"location": "7:100620416-100642779",
"ensembl_id": "ENSG00000106327"
}
}
},
"hgnc_date_symbol_changed": "1998-06-03"
},
"entity_type": "gene",
"entity_name": "TFR2",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Hemochromatosis, type 3 604250"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"RECQL2",
"RECQ3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12791",
"gene_name": "Werner syndrome RecQ like helicase",
"omim_gene": [
"604611"
],
"alias_name": null,
"gene_symbol": "WRN",
"hgnc_symbol": "WRN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:30891317-31031285",
"ensembl_id": "ENSG00000165392"
}
},
"GRch38": {
"90": {
"location": "8:31033801-31173769",
"ensembl_id": "ENSG00000165392"
}
}
},
"hgnc_date_symbol_changed": "1991-08-21"
},
"entity_type": "gene",
"entity_name": "WRN",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"8602509"
],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"Werner syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"curated_removed"
],
"transcript": null
}
],
"strs": [],
"regions": [
{
"gene_data": null,
"entity_type": "region",
"entity_name": "ISCA-37432-Loss",
"verbose_name": "17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss",
"confidence_level": "0",
"penetrance": null,
"mode_of_pathogenicity": null,
"haploinsufficiency_score": "3",
"triplosensitivity_score": "",
"required_overlap_percentage": 60,
"type_of_variants": "cnv_loss",
"publications": [],
"evidence": [
"Expert Review Removed"
],
"phenotypes": [
"614527",
"utero-vaginal atresia",
"RCAD syndrome",
"Schizophrenia",
"Chromosome 17q12 deletion syndrome",
"delayed development, intellectual disability",
"global developmental delay",
"Autism Spectrum Disorder",
"Renal cysts and diabetes syndrome",
"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"chromosome": "17",
"grch37_coordinates": null,
"grch38_coordinates": [
36458167,
37854616
],
"tags": [
"curated_removed"
]
}
]
}