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{
"id": 515,
"hash_id": null,
"name": "Iron metabolism disorders - NOT common HFE mutations",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
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"version_created": "2024-04-15T16:49:59.535709Z",
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"number_of_strs": 0,
"number_of_regions": 0
},
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},
{
"name": "GMS Rare Disease",
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},
{
"name": "GMS signed-off",
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"Atm1p",
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},
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},
{
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"82": {
"location": "X:55035488-55057497",
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},
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"tags": [],
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},
{
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"biotype": "protein_coding",
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"606882"
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"alias_name": [
"Wilson disease",
"copper pump 2",
"copper-transporting ATPase 2"
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"hgnc_symbol": "ATP7B",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:52506809-52585630",
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},
"GRch38": {
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}
},
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},
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"27982432",
"24266916",
"28433102"
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"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"VGR1"
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"biotype": "protein_coding",
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"gene_name": "bone morphogenetic protein 6",
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"gene_symbol": "BMP6",
"hgnc_symbol": "BMP6",
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"GRch37": {
"82": {
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}
},
"GRch38": {
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}
},
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},
"entity_type": "gene",
"entity_name": "BMP6",
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"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
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"phenotypes": [
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"tags": [],
"transcript": null
},
{
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"alias_name": [
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"gene_symbol": "CP",
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"82": {
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},
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}
},
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},
"entity_type": "gene",
"entity_name": "CP",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"15338274"
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"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"aceruloplasminemia MONDO:0011426",
"Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DCYTB",
"FLJ23462",
"FRRS3",
"CYB561A2"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:20797",
"gene_name": "cytochrome b reductase 1",
"omim_gene": [
"605745"
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"alias_name": [
"ferric-chelate reductase 3",
"cytochrome b561 family, member A2"
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"gene_symbol": "CYBRD1",
"hgnc_symbol": "CYBRD1",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:172378757-172414643",
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}
},
"GRch38": {
"90": {
"location": "2:171522247-171558133",
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}
}
},
"hgnc_date_symbol_changed": "2003-07-16"
},
"entity_type": "gene",
"entity_name": "CYBRD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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"37632052"
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"evidence": [
"London South GLH",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
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"phenotypes": [
"hereditary hemochromatosis MONDO:0006507"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked"
],
"transcript": null
},
{
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"NBIA3"
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"134790"
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"ferritin light polypeptide-like 3",
"L apoferritin",
"ferritin L subunit",
"ferritin light chain",
"ferritin L-chain",
"neurodegeneration with brain iron accumulation 3"
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"gene_symbol": "FTL",
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"GRch37": {
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},
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}
},
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"mode_of_pathogenicity": "",
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"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
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"transcript": null
},
{
"gene_data": {
"alias": [
"GBA1"
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"biotype": "protein_coding",
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},
"GRch38": {
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}
},
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"tags": [
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},
{
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},
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{
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},
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}
},
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"London South GLH",
"NHS GMS",
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"phenotypes": [
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},
{
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"evidence": [
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"tags": [],
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},
{
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"HJV",
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"haemojuvelin"
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},
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}
},
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"tags": [
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"transcript": null
},
{
"gene_data": {
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"DMT1"
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"biotype": "protein_coding",
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"82": {
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},
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},
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},
{
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},
{
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},
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},
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