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"name": "Hearing loss",
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"Hyperreflexia Intention",
"tremor",
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"Sensorimotor peripheral neuropathy",
"Distal sensory loss",
"Demyelinating neuropathy",
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"Decreased nerve conduction velocities",
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"Eye coloboma (in some patients)",
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"Large, squared nose tip",
"Prominent nasal root on profile",
"Thick/prominent/everted lower lipCleft lip/palate (in some patients)",
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"Thin upper lip",
"Large mouth",
"Short neck (in some patients)",
"Pterygium colli (in some patients)",
"Heart defect (in some patients)",
"Kyphosis/scoliosis (in some patients)",
"Pectus (in some patients)",
"Enlarged ventricles (in some patients)",
"Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)",
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{
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{
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},
{
"tags": [],
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"#616029: Ectodermal dysplasia/short stature syndrome"
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"entity_type": "gene",
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"20938050",
"21610158",
"23813623",
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"Deafness, autosomal recessive 25, 613285",
"hearing loss"
],
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"20137774",
"20137778"
],
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},
{
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"phenotypes": [
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"VACTERL-like phenotype"
],
"entity_name": "HAAO",
"entity_type": "gene",
"publications": [
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"17334708",
"28792876"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert",
"Illumina TruGenome Clinical Sequencing Services"
],
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"1358459",
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"18394579",
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"9367425"
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{
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"Expert",
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"17-beta-HSD IV",
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"D-3-hydroxyacyl-CoA dehydratase",
"3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
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"beta-hydroxyacyl dehydrogenase",
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"D-bifunctional protein deficiency, 261515",
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"10748062",
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"180535",
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"7487879",
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"8938456",
"9089413",
"9133619",
"9197465",
"9345094",
"9482850",
"9880674",
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"mode_of_pathogenicity": ""
},
{
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"gene_name": "immunoglobulin like domain containing receptor 1",
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},
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},
"hgnc_date_symbol_changed": "2004-07-27"
},
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"phenotypes": [
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],
"entity_name": "ILDR1",
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"21255762",
"24990150"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"Expert",
"Radboud University Medical Center, Nijmegen",
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"gene_name": "lysyl-tRNA synthetase",
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],
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"hgnc_symbol": "KARS",
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}
},
"hgnc_date_symbol_changed": "1995-07-11"
},
"penetrance": "Complete",
"phenotypes": [
"Charcot-Marie-Tooth disease, recessive intermediate, B, 613641",
"Deafness, autosomal recessive 89, 613916"
],
"entity_name": "KARS",
"entity_type": "gene",
"publications": [
"PMID:10952987",
"11331948",
"15851690",
"20920668",
"21181198",
"23768514",
"25035493",
"8514867",
"8812440"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"Expert",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory"
],
"gene_data": {
"alias": [
"minK",
"ISK",
"JLNS2",
"LQT5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6240",
"gene_name": "potassium voltage-gated channel subfamily E regulatory subunit 1",
"omim_gene": [
"176261"
],
"alias_name": null,
"gene_symbol": "KCNE1",
"hgnc_symbol": "KCNE1",
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},
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}
}
},
"hgnc_date_symbol_changed": "1991-08-13"
},
"penetrance": "Complete",
"phenotypes": [
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"JLNS",
"Long QT syndrome-5, 613695"
],
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"entity_type": "gene",
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"10973849",
"11438691",
"11799244",
"12670425",
"14760488",
"15051636",
"15207237",
"15840476",
"16823764",
"16922724",
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"8432548",
"8899564",
"8900282",
"8900283",
"9230439",
"9354783",
"9354802",
"9445165",
"9693036",
"9790991"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"Expert",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
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"Kir1.2"
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"gene_name": "potassium voltage-gated channel subfamily J member 10",
"omim_gene": [
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],
"alias_name": null,
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"hgnc_symbol": "KCNJ10",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
"location": "1:160007257-160040038",
"ensembl_id": "ENSG00000177807"
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},
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"90": {
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}
},
"hgnc_date_symbol_changed": "1996-07-26"
},
"penetrance": "Complete",
"phenotypes": [
"#600791:Enlarged vestibular aqueduct, digenic",
"#612780:SESAME syndrome",
"Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome",
"Nonsyndromic Hearing Loss, Mixed"
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"11466414",
"12618319",
"17942730",
"19289823",
"19420365",
"19426954",
"20651251",
"20807765",
"21849804",
"22328087",
"7580148",
"7608203",
"9367690"
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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},
{
"tags": [],
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"Expert",
"Radboud University Medical Center, Nijmegen",
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"KCNA8",
"KVLQT1",
"JLNS1",
"LQT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6294",
"gene_name": "potassium voltage-gated channel subfamily Q member 1",
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}
},
"hgnc_date_symbol_changed": "1997-02-05"
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},
{
"tags": [
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],
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"UKGTN",
"Emory Genetics Laboratory"
],
"gene_data": {
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6298",
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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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"UKGTN",
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"phenotypes": [
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"mode_of_pathogenicity": ""
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{
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"alias_name": [
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},
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}
},
"hgnc_date_symbol_changed": "2001-04-05"
},
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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],
"gene_data": {
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"biotype": "protein_coding",
"hgnc_id": "HGNC:11909",
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},
"hgnc_date_symbol_changed": "1997-09-05"
},
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"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"gene_data": {
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"biotype": "protein_coding",
"hgnc_id": "HGNC:25481",
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"omim_gene": [
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"alias_name": null,
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"ensembl_genes": {
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},
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}
},
"hgnc_date_symbol_changed": "2005-08-11"
},
"penetrance": "Complete",
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"{Deafness,mitochondrial,modifierof},580000"
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"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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],
"gene_data": {
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"TRP12",
"VROAC",
"VRL-2",
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18083",
"gene_name": "transient receptor potential cation channel subfamily V member 4",
"omim_gene": [
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],
"alias_name": [
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],
"gene_symbol": "TRPV4",
"hgnc_symbol": "TRPV4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"ensembl_id": "ENSG00000111199"
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},
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},
"hgnc_date_symbol_changed": "2002-01-29"
},
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"entity_name": "TRPV4",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"biotype": "protein_coding",
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"hgnc_symbol": "TSHR",
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"ensembl_genes": {
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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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"mode_of_pathogenicity": ""
},
{
"tags": [],
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],
"gene_data": {
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],
"biotype": "protein_coding",
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"601197"
],
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{
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},
{
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"hgnc_symbol": "UCN",
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}
},
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},
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"entity_name": "UCN",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert"
],
"gene_data": {
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],
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],
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},
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},
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},
{
"tags": [],
"evidence": [
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],
"gene_data": {
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"XPAC",
"XP1"
],
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"gene_name": "XPA, DNA damage recognition and repair factor",
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},
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},
{
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"RAD4"
],
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"omim_gene": [
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],
"alias_name": [
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],
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"hgnc_symbol": "XPC",
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}
},
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},
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},
{
"tags": [],
"evidence": [
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],
"gene_data": {
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],
"biotype": "protein_coding",
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],
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}
},
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}
],
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},
"types": [
{
"name": "Rare Disease 100K",
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"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease Virtual",
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{
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{
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}