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{
"id": 308,
"hash_id": "553f9781bb5a1616e5ed45f4",
"name": "Congenital hyperinsulinism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Disorders of unusual phenotypes",
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"version_created": "2023-10-26T01:03:07.711656Z",
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"Hyperinsulinism",
"R144"
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"number_of_strs": 0,
"number_of_regions": 0
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"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease Virtual",
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},
{
"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."
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{
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{
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"TS",
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"Expert Review Green",
"Expert review"
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{
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"severe hypotonia"
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{
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"tags": [
"gene-checked"
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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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}
},
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],
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],
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],
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},
{
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},
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"ensembl_id": "ENSG00000254585"
}
}
},
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},
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"Expert review"
],
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"Schaaf-Yang syndrome, MONDO:0014243"
],
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"tags": [],
"transcript": null
},
{
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"FLJ22263",
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},
"GRch38": {
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}
}
},
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},
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"publications": [
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"Expert Review Green",
"Expert list"
],
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],
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"tags": [],
"transcript": null
},
{
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"CDG1a",
"PMI",
"PMI1"
],
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],
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],
"gene_symbol": "PMM2",
"hgnc_symbol": "PMM2",
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"ensembl_genes": {
"GRch37": {
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"ensembl_id": "ENSG00000140650"
}
},
"GRch38": {
"90": {
"location": "16:8788823-8849331",
"ensembl_id": "ENSG00000140650"
}
}
},
"hgnc_date_symbol_changed": "1997-05-22"
},
"entity_type": "gene",
"entity_name": "PMM2",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28373276"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Hyperinsulinemic Hypoglycaemia",
"polycystic kidney disease"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MCT",
"MCT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10922",
"gene_name": "solute carrier family 16 member 1",
"omim_gene": [
"600682"
],
"alias_name": null,
"gene_symbol": "SLC16A1",
"hgnc_symbol": "SLC16A1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
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"ensembl_id": "ENSG00000155380"
}
},
"GRch38": {
"90": {
"location": "1:112911847-112957013",
"ensembl_id": "ENSG00000155380"
}
}
},
"hgnc_date_symbol_changed": "1994-02-16"
},
"entity_type": "gene",
"entity_name": "SLC16A1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "Other - please provide details in the comments",
"publications": [
"12502513"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
],
"phenotypes": [
"Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SLC25A8"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12518",
"gene_name": "uncoupling protein 2",
"omim_gene": [
"601693"
],
"alias_name": null,
"gene_symbol": "UCP2",
"hgnc_symbol": "UCP2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:73685712-73694352",
"ensembl_id": "ENSG00000175567"
}
},
"GRch38": {
"90": {
"location": "11:73974667-73983307",
"ensembl_id": "ENSG00000175567"
}
}
},
"hgnc_date_symbol_changed": "1997-07-11"
},
"entity_type": "gene",
"entity_name": "UCP2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"19065272"
],
"evidence": [
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Hyperinsulinism, MONDO:0002177"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"watchlist"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"RIPE3b1",
"hMafA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23145",
"gene_name": "MAF bZIP transcription factor A",
"omim_gene": [
"610303"
],
"alias_name": null,
"gene_symbol": "MAFA",
"hgnc_symbol": "MAFA",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:144501352-144512576",
"ensembl_id": "ENSG00000182759"
}
},
"GRch38": {
"90": {
"location": "8:143419182-143430406",
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}
}
},
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},
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"entity_name": "MAFA",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS"
],
"phenotypes": [],
"mode_of_inheritance": "",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10485",
"gene_name": "ryanodine receptor 3",
"omim_gene": [
"180903"
],
"alias_name": null,
"gene_symbol": "RYR3",
"hgnc_symbol": "RYR3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:33603163-34158303",
"ensembl_id": "ENSG00000198838"
}
},
"GRch38": {
"90": {
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}
}
},
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},
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"entity_name": "RYR3",
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"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"No OMIM phenotypeEpileptic encephalopathy (Appenzeller (2014) Am J Hum Genet 95, 360)Hyperinsulinism (Proverbio (2013) PLoS One 8, e68740)Schizophrenia (Fromer (2014) Nature 506, 179)Lennox-Gastaut syndrome (Appenzeller (2014) Am J Hum Genet 95, 360)"
],
"mode_of_inheritance": "",
"tags": [],
"transcript": null
},
{
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"alias": [
"MGC27034",
"TRM10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28403",
"gene_name": "tRNA methyltransferase 10A",
"omim_gene": [
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],
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"gene_symbol": "TRMT10A",
"hgnc_symbol": "TRMT10A",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"ensembl_id": "ENSG00000145331"
}
},
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}
}
},
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},
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"entity_name": "TRMT10A",
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"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"25053765"
],
"evidence": [
"NHS GMS",
"Expert Review Red",
"Expert Review"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}