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{
"id": 235,
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{
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{
"tags": [
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],
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{
"tags": [],
"evidence": [
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},
{
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"evidence": [
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"Expert Review"
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},
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},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert Review"
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"alias": [],
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}
},
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},
{
"tags": [
"currently-ngs-unreportable",
"nucleotide-repeat-expansion"
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"evidence": [
"Expert Review Green",
"Expert Review"
],
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"alias": [
"RNF163",
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"CNBP1"
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"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
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],
"gene_data": {
"alias": [
"HSPB5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2389",
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}
},
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},
{
"tags": [],
"evidence": [
"Expert Review Green",
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"alias_name": [
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],
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"GRch37": {
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},
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},
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},
{
"tags": [],
"evidence": [
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"Expert Review"
],
"gene_data": {
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},
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}
},
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},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert Review"
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"DYN2",
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},
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}
},
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},
{
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},
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"penetrance": "Complete",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review"
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"gene_data": {
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},
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"penetrance": "Complete",
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],
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"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review"
],
"gene_data": {
"alias": [
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"biotype": "protein_coding",
"hgnc_id": "HGNC:3756",
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"alias_name": [
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},
"hgnc_date_symbol_changed": "1993-08-24"
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"penetrance": "Complete",
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},
{
"tags": [],
"evidence": [
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"gene_data": {
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"biotype": "protein_coding",
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"hgnc_symbol": "GNE",
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}
},
"hgnc_date_symbol_changed": "2003-11-28"
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"penetrance": "Complete",
"phenotypes": [
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"entity_name": "GNE",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"gene_data": {
"alias": [
"HSP27",
"HSP28",
"Hs.76067",
"Hsp25",
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"biotype": "protein_coding",
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"GRch37": {
"82": {
"location": "7:75931861-75933612",
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},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1991-07-09"
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"penetrance": "Complete",
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"entity_name": "HSPB1",
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],
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},
{
"tags": [],
"evidence": [
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"Expert Review"
],
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"biotype": "protein_coding",
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},
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}
},
"hgnc_date_symbol_changed": "2004-01-29"
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"penetrance": "Complete",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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