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{
"id": 567,
"hash_id": null,
"name": "Adult onset hereditary spastic paraplegia",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "4.1",
"version_created": "2024-05-01T12:33:35.257005Z",
"relevant_disorders": [
"Hereditary spastic paraplegia - adult onset",
"R60"
],
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"number_of_strs": 10,
"number_of_regions": 0
},
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{
"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",
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"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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"adrenal failure",
"VLCFA accumulation",
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"tags": [],
"transcript": null
},
{
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{
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"Spastic paraplegia 9B, autosomal recessive 616586",
"SPG9",
"ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT",
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"Spastic paraplegia 9A, autosomal dominant 601162",
"Cutis laxa, autosomal recessive, type IIIA 219150"
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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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