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{
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"CHL1",
"ChlR1",
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},
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{
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"Expert Review Green",
"UKGTN",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services",
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},
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{
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"severe visual impairment, intellectual disability, and short stature",
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},
{
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"Expert Review Green",
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],
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],
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},
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"transcript": null,
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},
{
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"gene_data": {
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],
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},
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"penetrance": "Complete",
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},
{
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"Expert Review Green"
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},
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},
"hgnc_date_symbol_changed": "2007-05-03"
},
"penetrance": "Complete",
"phenotypes": [
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"transcript": null,
"entity_name": "FANCI",
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},
{
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"gene_data": {
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"biotype": "protein_coding",
"hgnc_id": "HGNC:20748",
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"omim_gene": [
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"alias_name": null,
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},
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},
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},
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"entity_name": "FANCL",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green",
"Other",
"Expert list"
],
"gene_data": {
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17493",
"gene_name": "geminin, DNA replication inhibitor",
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"gene_symbol": "GMNN",
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"ensembl_genes": {
"GRch37": {
"82": {
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},
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}
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"microcephalic primordial dwarfism",
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],
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},
{
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}
},
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},
"penetrance": "Complete",
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],
"transcript": null,
"entity_name": "HDAC8",
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"publications": [
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],
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},
{
"tags": [
"new-gene-name"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Other"
],
"gene_data": {
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"IARS1"
],
"biotype": "protein_coding",
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"omim_gene": [
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],
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],
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},
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}
},
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},
{
"tags": [],
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"Expert Review Green",
"Other"
],
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},
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
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"entity_name": "IER3IP1",
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],
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},
{
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"Expert Review Green",
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},
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}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
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"microcephalic primordial dwarfism"
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"publications": [
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],
"confidence_level": "3",
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},
{
"tags": [],
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"Expert Review Green",
"Illumina TruGenome Clinical Sequencing Services",
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"Emory Genetics Laboratory",
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"CD221",
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},
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}
},
"hgnc_date_symbol_changed": "1988-07-07"
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"penetrance": "Complete",
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"transcript": null,
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},
{
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"Expert Review Green",
"UKGTN",
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"HKSP",
"TRIP5"
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],
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"82": {
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},
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}
},
"hgnc_date_symbol_changed": "2003-01-10"
},
"penetrance": "Complete",
"phenotypes": [
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"Autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy, 152950"
],
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"entity_name": "KIF11",
"entity_type": "gene",
"publications": [
"22284827"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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},
{
"tags": [
"new-gene-name"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Other"
],
"gene_data": {
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],
"biotype": "protein_coding",
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}
},
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"phenotypes": [
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},
{
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"Expert Review Green",
"UKGTN",
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"Illumina TruGenome Clinical Sequencing Services",
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}
},
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"Primary Microcephaly, Recessive",
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"entity_name": "KNL1",
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"22983954"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert Review"
],
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"PIP7S",
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],
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},
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}
},
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},
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"phenotypes": [
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],
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],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert list"
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],
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],
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},
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}
},
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},
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"microcephalic primordial dwarfism",
"LIG4 syndrome, 606593",
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],
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"UKGTN",
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],
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}