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{
"id": 535,
"name": "Mitochondrial disorder with complex II deficiency",
"strs": [],
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{
"tags": [],
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"Expert Review Green"
],
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},
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},
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"Leigh syndrome, 256000"
],
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},
{
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},
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},
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},
{
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"alias": [
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"GRch38": {
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},
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},
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},
{
"tags": [],
"evidence": [
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"gene_data": {
"alias": [
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"SDH5"
],
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"hgnc_id": "HGNC:26034",
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"omim_gene": [
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"alias_name": null,
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},
"hgnc_date_symbol_changed": "2009-08-10"
},
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"phenotypes": [
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],
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},
{
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"DC11",
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"LYRM10"
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"gene_name": "succinate dehydrogenase complex assembly factor 3",
"omim_gene": [
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"alias_name": null,
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"hgnc_symbol": "SDHAF3",
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"ensembl_genes": {
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}
},
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},
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],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"gene_data": {
"alias": [
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"alias_name": null,
"gene_symbol": "SDHAF4",
"hgnc_symbol": "SDHAF4",
"hgnc_release": "2017-11-03",
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},
"hgnc_date_symbol_changed": "2015-02-27"
},
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"phenotypes": [
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],
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},
{
"tags": [],
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"Expert Review Amber",
"NHS GMS"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10681",
"gene_name": "succinate dehydrogenase complex iron sulfur subunit B",
"omim_gene": [
"185470"
],
"alias_name": [
"iron-sulfur subunit of complex II",
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],
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"hgnc_symbol": "SDHB",
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"ensembl_genes": {
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},
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}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": null,
"phenotypes": [
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],
"transcript": null,
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"gene_data": {
"alias": [
"CYB560",
"cybL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10682",
"gene_name": "succinate dehydrogenase complex subunit C",
"omim_gene": [
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],
"alias_name": [
"succinate dehydrogenase cytochrome b560 subunit",
"succinate dehydrgenase cytochrome b",
"large subunit of cytochrome b"
],
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"hgnc_symbol": "SDHC",
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},
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}
},
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},
"penetrance": null,
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],
"transcript": null,
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"entity_type": "gene",
"publications": [],
"confidence_level": "2",
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"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 8,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"regions": [],
"version": "1.2",
"disease_group": "",
"version_created": "2020-02-17T15:54:04.601151Z",
"disease_sub_group": "",
"relevant_disorders": [
"R354"
],
"signed_off": "2020-02-17"
}