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{
"id": 541,
"hash_id": null,
"name": "Paroxysmal central nervous system disorders",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "3.10",
"version_created": "2023-10-26T11:01:42.408563Z",
"relevant_disorders": [
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"pain disorders and sleep disorders",
"R66"
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"stats": {
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"number_of_strs": 5,
"number_of_regions": 1
},
"types": [
{
"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 Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"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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"AC5"
],
"biotype": "protein_coding",
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],
"alias_name": null,
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"hgnc_symbol": "ADCY5",
"hgnc_release": "2017-11-03",
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}
},
"hgnc_date_symbol_changed": "1994-07-22"
},
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"penetrance": null,
"mode_of_pathogenicity": "",
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"24700542"
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"evidence": [
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"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
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"Dyskinesia, familial, with facial myokymia, 606703"
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"tags": [],
"transcript": null
},
{
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],
"biotype": "protein_coding",
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"omim_gene": [
"614452"
],
"alias_name": [
"thorase"
],
"gene_symbol": "ATAD1",
"hgnc_symbol": "ATAD1",
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"82": {
"location": "10:89511269-89601100",
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}
},
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},
"entity_type": "gene",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Wessex and West Midlands GLH"
],
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"tags": [],
"transcript": null
},
{
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"gene_name": "ATPase Na+/K+ transporting subunit alpha 2",
"omim_gene": [
"182340"
],
"alias_name": [
"sodium/potassium-transporting ATPase subunit alpha-2",
"sodium pump subunit alpha-2",
"sodium-potassium ATPase catalytic subunit alpha-2"
],
"gene_symbol": "ATP1A2",
"hgnc_symbol": "ATP1A2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:160085549-160113381",
"ensembl_id": "ENSG00000018625"
}
},
"GRch38": {
"90": {
"location": "1:160115759-160143591",
"ensembl_id": "ENSG00000018625"
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}
},
"hgnc_date_symbol_changed": "1988-05-11"
},
"entity_type": "gene",
"entity_name": "ATP1A2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12539047",
"12953268",
"18056581"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
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"Migraine, familial basilar, 602481",
"alternating hemiplegia of childhood 104290"
],
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"tags": [],
"transcript": null
},
{
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"alias": [],
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"hgnc_id": "HGNC:801",
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"omim_gene": [
"182350"
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"alias_name": [
"sodium/potassium-transporting ATPase subunit alpha-3",
"sodium pump subunit alpha-3",
"sodium-potassium ATPase catalytic subunit alpha-3"
],
"gene_symbol": "ATP1A3",
"hgnc_symbol": "ATP1A3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
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"location": "19:42470734-42501649",
"ensembl_id": "ENSG00000105409"
}
},
"GRch38": {
"90": {
"location": "19:41966582-41997497",
"ensembl_id": "ENSG00000105409"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "ATP1A3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22842232",
"22850527"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dystonia-12, 128235",
"Alternating hemiplegia of childhood 2, 614820",
"CAPOS syndrome, 601338"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Cav2.1",
"EA2",
"APCA",
"HPCA",
"FHM"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1388",
"gene_name": "calcium voltage-gated channel subunit alpha1 A",
"omim_gene": [
"601011"
],
"alias_name": null,
"gene_symbol": "CACNA1A",
"hgnc_symbol": "CACNA1A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:13317256-13734804",
"ensembl_id": "ENSG00000141837"
}
},
"GRch38": {
"90": {
"location": "19:13206442-13633025",
"ensembl_id": "ENSG00000141837"
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}
},
"hgnc_date_symbol_changed": "1996-06-18"
},
"entity_type": "gene",
"entity_name": "CACNA1A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17575281",
"21734179"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
],
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"Migraine, familial hemiplegic, 1, OMIM:141500",
"Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MCMT",
"CXXC9"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2976",
"gene_name": "DNA methyltransferase 1",
"omim_gene": [
"126375"
],
"alias_name": null,
"gene_symbol": "DNMT1",
"hgnc_symbol": "DNMT1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:10244021-10341962",
"ensembl_id": "ENSG00000130816"
}
},
"GRch38": {
"90": {
"location": "19:10133345-10231286",
"ensembl_id": "ENSG00000130816"
}
}
},
"hgnc_date_symbol_changed": "1991-06-04"
},
"entity_type": "gene",
"entity_name": "DNMT1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23904686",
"22328086",
"24709307",
"31984424"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121",
"Neuropathy, hereditary sensory, type IE, 614116",
"CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT",
"ADCADN"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4326",
"gene_name": "glycine receptor alpha 1",
"omim_gene": [
"138491"
],
"alias_name": [
"stiff person syndrome"
],
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"hgnc_symbol": "GLRA1",
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"GRch37": {
"82": {
"location": "5:151202074-151304403",
"ensembl_id": "ENSG00000145888"
}
},
"GRch38": {
"90": {
"location": "5:151822513-151924842",
"ensembl_id": "ENSG00000145888"
}
}
},
"hgnc_date_symbol_changed": "1990-06-15"
},
"entity_type": "gene",
"entity_name": "GLRA1",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20301437"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
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"phenotypes": [
"Hyperekplexia 1, 149400"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4329",
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"138492"
],
"alias_name": null,
"gene_symbol": "GLRB",
"hgnc_symbol": "GLRB",
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"GRch37": {
"82": {
"location": "4:157997209-158093242",
"ensembl_id": "ENSG00000109738"
}
},
"GRch38": {
"90": {
"location": "4:157076057-157172090",
"ensembl_id": "ENSG00000109738"
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}
},
"hgnc_date_symbol_changed": "1998-08-21"
},
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"entity_name": "GLRB",
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"penetrance": null,
"mode_of_pathogenicity": "",
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"23238346",
"11929858",
"21391991",
"33323420"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
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"Hyperekplexia 2 OMIM:614619",
"hyperekplexia 2 MONDO:0013828"
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
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"RBK1",
"HUK1",
"MBK1"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:6218",
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],
"alias_name": null,
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"82": {
"location": "12:5019071-5040527",
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},
"GRch38": {
"90": {
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}
},
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17575281"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
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"phenotypes": [
"Episodic Ataxia",
"EPISODIC ATAXIA, TYPE 1",
"Episodic ataxia/myokymia syndrome, 160120",
"EA1",
"Myokymia",
"myokymia with periodic ataxia",
"Episodic Ataxia, Type 1"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
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"alias": [
"KCa1.1",
"mSLO1"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:6284",
"gene_name": "potassium calcium-activated channel subfamily M alpha 1",
"omim_gene": [
"600150"
],
"alias_name": [
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"maxiK channel",
"big potassium channel alpha subunit"
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"hgnc_symbol": "KCNMA1",
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"GRch37": {
"82": {
"location": "10:78629359-79398353",
"ensembl_id": "ENSG00000156113"
}
},
"GRch38": {
"90": {
"location": "10:76869601-77638369",
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}
},
"hgnc_date_symbol_changed": "1994-12-15"
},
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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"26195193",
"29545233",
"27567911"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Wessex and West Midlands GLH"
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"phenotypes": [
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"Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Kv7.2",
"ENB1",
"BFNC",
"KCNA11",
"HNSPC"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:6296",
"gene_name": "potassium voltage-gated channel subfamily Q member 2",
"omim_gene": [
"602235"
],
"alias_name": null,
"gene_symbol": "KCNQ2",
"hgnc_symbol": "KCNQ2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:62037542-62103993",
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},
"GRch38": {
"90": {
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}
},
"hgnc_date_symbol_changed": "1998-01-12"
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"entity_type": "gene",
"entity_name": "KCNQ2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
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"Seizures, benign neonatal, 1, 121200",
"Epileptic encephalopathy, early infantile, 7, 613720"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8772",
"gene_name": "phosphodiesterase 10A",
"omim_gene": [
"610652"
],
"alias_name": [
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"gene_symbol": "PDE10A",
"hgnc_symbol": "PDE10A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:165740776-166400091",
"ensembl_id": "ENSG00000112541"
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},
"GRch38": {
"90": {
"location": "6:165327287-165986603",
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}
},
"hgnc_date_symbol_changed": "1999-07-30"
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"entity_type": "gene",
"entity_name": "PDE10A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH"
],
"phenotypes": [
"Dyskinesia, limb and orofacial, infantile-onset, 616921",
"Infantile-onset limb and orofacial dyskinesia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DYT8",
"PDC",
"DKFZp564N1362",
"FPD1",
"MR-1",
"BRP17",
"FKSG19",
"TAHCCP2",
"KIAA1184",
"KIPP1184",
"MGC31943",
"PKND1"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:9153",
"gene_name": "paroxysmal nonkinesigenic dyskinesia",
"omim_gene": [
"609023"
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"alias_name": [
"myofibrillogenesis regulator 1"
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"gene_symbol": "PNKD",
"hgnc_symbol": "PNKD",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:219135115-219211516",
"ensembl_id": "ENSG00000127838"
}
},
"GRch38": {
"90": {
"location": "2:218270392-218346793",
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}
},
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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"15496428",
"15824259"
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"evidence": [
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
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"phenotypes": [
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
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"DKFZp547J199",
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"FICCA",
"DSPB3",
"PKC",
"EKD1"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:30500",
"gene_name": "proline rich transmembrane protein 2",
"omim_gene": [
"614386"
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"alias_name": [
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"mode_of_pathogenicity": "",
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"22101681",
"22120146",
"22399141"
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"evidence": [
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"London North GLH",
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"phenotypes": [
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"dystonia and occasionally hemiplegic migraine and epilepsy",
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],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
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"GEFSP2",
"HBSCI",
"NAC1",
"SMEI"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:10585",
"gene_name": "sodium voltage-gated channel alpha subunit 1",
"omim_gene": [
"182389"
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"alias_name": null,
"gene_symbol": "SCN1A",
"hgnc_symbol": "SCN1A",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:166845670-166984523",
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},
"GRch38": {
"90": {
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}
},
"hgnc_date_symbol_changed": "1988-11-28"
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},
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},
{
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},
{
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},
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},
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"Myotonia congenita, recessive, 255700",
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"Myotonia",
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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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"OX"
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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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"currently-ngs-unreportable"
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{
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{
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{
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},
{
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},
{
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"Wessex and West Midlands GLH"
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"transcript": null
},
{
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"glycogen phosphorylase, muscle form",
"myophosphorylase"
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},
{
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"12545426",
"17060578"
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"HSAN1/2B",
"Charcot-Marie-Tooth disease, type 2B, 600882"
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},
{
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"JK1"
],
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"613114"
],
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}
},
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}
},
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},
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"21115472",
"19838196"
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"Expert Review Red",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
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"Neuropathy, hereditary sensory and autonomic, type IIB, 613115",
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"tags": [],
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},
{
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"PPP1R137"
],
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},
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"London North GLH",
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"tags": [],
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},
{
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"hPN3",
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"ensembl_id": "ENSG00000185313"
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},
"GRch38": {
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}
},
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},
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"27598514",
"24813307",
"28665811",
"23115331",
"26711856",
"25316021",
"24006052",
"25250524"
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"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
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"SFN",
"Small fibre neuropathy",
"Familial episodic pain syndrome-2",
"Episodic pain syndrome, familial, 2, 615551"
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"tags": [],
"transcript": null
},
{
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"NaN",
"SNS-2"
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"omim_gene": [
"604385"
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"alias_name": null,
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"ensembl_id": "ENSG00000168356"
}
},
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}
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},
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"24207120",
"27503742",
"28665811",
"24813307",
"24036948",
"25316021",
"26645915",
"28298626"
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"NHS GMS",
"London North GLH",
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"Episodic pain syndrome, familial, 3, 615552",
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"Neuropathy, hereditary sensory and autonomic, type VII, 615548"
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
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"HYPP",
"SkM1"
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"hgnc_id": "HGNC:10591",
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"603967"
],
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"location": "17:62015914-62050278",
"ensembl_id": "ENSG00000007314"
}
},
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"90": {
"location": "17:63938554-63972918",
"ensembl_id": "ENSG00000007314"
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}
},
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},
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"17395131",
"15534250"
],
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"NHS GMS",
"London North GLH",
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"Hypokalemic periodic paralysis, type 2, 613",
"Potassium-Aggravated Myotonia",
"Hyperkalemic periodic paralysis, type 2, 170500",
"Myasthenic syndrome, acetazolamide-responsive, 614198",
"Hyperkalemic Periodic Paralysis",
"Episodic weakness",
"Myotonia",
"Hypokalemic Periodic Paralysis"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Nav1.7",
"PN1",
"NE-NA",
"NENA",
"ETHA"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:10597",
"gene_name": "sodium voltage-gated channel alpha subunit 9",
"omim_gene": [
"603415"
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"alias_name": null,
"gene_symbol": "SCN9A",
"hgnc_symbol": "SCN9A",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:167051695-167232503",
"ensembl_id": "ENSG00000169432"
}
},
"GRch38": {
"90": {
"location": "2:166195185-166375993",
"ensembl_id": "ENSG00000169432"
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}
},
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},
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"17145499",
"16392115",
"17679678",
"17470132",
"24813307",
"28665811",
"25316021",
"16216943",
"1536168",
"24817410",
"15958509",
"28235406",
"23596073",
"17167479",
"14985375"
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"London North GLH",
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"Febrile seizures, familial, 3B, 613863",
"Dysosteosclerosis",
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"Epilepsy, generalized, with febrile seizures plus, type 7, 613863",
"Erythermalgia, Primary",
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
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},
{
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"KIAA0991",
"PNUTL4",
"AF17q25",
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},
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}
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"21556032",
"16186812"
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"tags": [
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"transcript": null
},
{
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},
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}
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"penetrance": null,
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
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"London North GLH",
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"SLC6A4-Related Behavior Disorders",
"{Anxiety-related personality traits} 607834",
"{Obsessive-compulsive disorder}"
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
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],
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"hgnc_id": "HGNC:11257",
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"omim_gene": [
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"alias_name": [
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"hgnc_symbol": "SPR",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:73114489-73119287",
"ensembl_id": "ENSG00000116096"
}
},
"GRch38": {
"90": {
"location": "2:72887360-72892158",
"ensembl_id": "ENSG00000116096"
}
}
},
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},
"entity_type": "gene",
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"penetrance": null,
"mode_of_pathogenicity": "",
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"evidence": [
"Expert Review Red",
"NHS GMS",
"London North GLH",
"Wessex and West Midlands GLH"
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"Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"LCB1",
"SPTI",
"HSAN1",
"hLCB1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11277",
"gene_name": "serine palmitoyltransferase long chain base subunit 1",
"omim_gene": [
"605712"
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"alias_name": null,
"gene_symbol": "SPTLC1",
"hgnc_symbol": "SPTLC1",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:94794281-94877666",
"ensembl_id": "ENSG00000090054"
}
},
"GRch38": {
"90": {
"location": "9:92031999-92115384",
"ensembl_id": "ENSG00000090054"
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}
},
"hgnc_date_symbol_changed": "2000-07-31"
},
"entity_type": "gene",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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