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{
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{
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{
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{
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"ensembl_id": "ENSG00000231852"
}
},
"GRch38": {
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"location": "6:32038265-32041670",
"ensembl_id": "ENSG00000231852"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
"Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency"
],
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"entity_name": "CYP21A2",
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"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert list"
],
"gene_data": {
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"SDR11E2"
],
"biotype": "protein_coding",
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"omim_gene": [
"613890"
],
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],
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"ensembl_id": "ENSG00000203859"
}
},
"GRch38": {
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}
}
},
"hgnc_date_symbol_changed": "1992-09-10"
},
"penetrance": "Complete",
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"Adrenal hyperplasia, Congenital, Due To 3-beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss",
"variabe effects on sex steroid synthesis",
"Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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],
"gene_data": {
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"CLIP",
"ACTH",
"NPP",
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],
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"gene_name": "proopiomelanocortin",
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],
"alias_name": [
"adrenocorticotropin",
"beta-lipotropin",
"alpha-melanocyte stimulating hormone",
"beta-melanocyte stimulating hormone",
"beta-endorphin",
"adrenocorticotropic hormone",
"opiomelanocortin prepropeptide"
],
"gene_symbol": "POMC",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:25383722-25391772",
"ensembl_id": "ENSG00000115138"
}
},
"GRch38": {
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"location": "2:25160853-25168903",
"ensembl_id": "ENSG00000115138"
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}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
"Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734",
"{Obesity, early-onset, susceptibility to}, 601665"
],
"transcript": null,
"entity_name": "POMC",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert list"
],
"gene_data": {
"alias": [
"TR",
"TRXR2",
"TR3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18155",
"gene_name": "thioredoxin reductase 2",
"omim_gene": [
"606448"
],
"alias_name": [
"thioredoxin reductase beta",
"selenoprotein Z"
],
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"hgnc_symbol": "TXNRD2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:19863040-19929341",
"ensembl_id": "ENSG00000184470"
}
},
"GRch38": {
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"location": "22:19875517-19941992",
"ensembl_id": "ENSG00000184470"
}
}
},
"hgnc_date_symbol_changed": "2002-02-22"
},
"penetrance": "Complete",
"phenotypes": [
"Familial glucocorticoid deficiency"
],
"transcript": null,
"entity_name": "TXNRD2",
"entity_type": "gene",
"publications": [
"PMC4207928",
"24601690"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 20,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"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": "55bf785822c1fc0fe45530bf",
"regions": [],
"version": "2.2",
"disease_group": "Endocrine disorders",
"version_created": "2020-02-19T16:07:04.273246Z",
"disease_sub_group": "Adrenal disorders",
"relevant_disorders": [
"R150"
],
"signed_off": "2020-02-19"
}