HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"id": 568,
"hash_id": null,
"name": "Childhood onset hereditary spastic paraplegia",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "5.1",
"version_created": "2024-05-01T12:35:05.337658Z",
"relevant_disorders": [
"Hereditary spastic paraplegia - childhood onset",
"R61"
],
"stats": {
"number_of_genes": 149,
"number_of_strs": 10,
"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 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."
}
],
"genes": [
{
"gene_data": {
"alias": [
"AMN",
"ALDP",
"adrenoleukodystrophy"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:61",
"gene_name": "ATP binding cassette subfamily D member 1",
"omim_gene": [
"300371"
],
"alias_name": null,
"gene_symbol": "ABCD1",
"hgnc_symbol": "ABCD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:152990323-153010216",
"ensembl_id": "ENSG00000101986"
}
},
"GRch38": {
"90": {
"location": "X:153724868-153744762",
"ensembl_id": "ENSG00000101986"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "ABCD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23664929",
"11739809",
"26049658",
"27084228",
"11810273",
"61263",
"17372139"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"spastic paraparesis",
"VLCFA accumulation",
"adrenal failure",
"Hereditary spastic paraplegia"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NG26",
"D6S82E"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13921",
"gene_name": "abhydrolase domain containing 16A",
"omim_gene": [
"142620"
],
"alias_name": null,
"gene_symbol": "ABHD16A",
"hgnc_symbol": "ABHD16A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:31654726-31671221",
"ensembl_id": "ENSG00000204427"
}
},
"GRch38": {
"90": {
"location": "6:31686949-31703444",
"ensembl_id": "ENSG00000204427"
}
}
},
"hgnc_date_symbol_changed": "2010-12-09"
},
"entity_type": "gene",
"entity_name": "ABHD16A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"34587489"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Spastic paraplegia",
"Intellectual disability"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ11238",
"APHC"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16066",
"gene_name": "alkaline ceramidase 3",
"omim_gene": [
"617036"
],
"alias_name": [
"alkaline phytoceramidase"
],
"gene_symbol": "ACER3",
"hgnc_symbol": "ACER3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:76571911-76737841",
"ensembl_id": "ENSG00000078124"
}
},
"GRch38": {
"90": {
"location": "11:76860867-77026797",
"ensembl_id": "ENSG00000078124"
}
}
},
"hgnc_date_symbol_changed": "2008-12-19"
},
"entity_type": "gene",
"entity_name": "ACER3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"26792856",
"32816236",
"34281620"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Leukodystrophy, progressive, early childhood-onset, OMIM:617762"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"ADAR1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:225",
"gene_name": "adenosine deaminase, RNA specific",
"omim_gene": [
"146920"
],
"alias_name": null,
"gene_symbol": "ADAR",
"hgnc_symbol": "ADAR",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:154554538-154600475",
"ensembl_id": "ENSG00000160710"
}
},
"GRch38": {
"90": {
"location": "1:154582062-154627999",
"ensembl_id": "ENSG00000160710"
}
}
},
"hgnc_date_symbol_changed": "1995-12-12"
},
"entity_type": "gene",
"entity_name": "ADAR",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25243380",
"25604658"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
"Aicardi-Goutieres syndrome 6, OMIM:615010"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SPAX5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:315",
"gene_name": "AFG3 like matrix AAA peptidase subunit 2",
"omim_gene": [
"604581"
],
"alias_name": null,
"gene_symbol": "AFG3L2",
"hgnc_symbol": "AFG3L2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:12328943-12377313",
"ensembl_id": "ENSG00000141385"
}
},
"GRch38": {
"90": {
"location": "18:12328944-12377314",
"ensembl_id": "ENSG00000141385"
}
}
},
"hgnc_date_symbol_changed": "1999-07-13"
},
"entity_type": "gene",
"entity_name": "AFG3L2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17101804",
"22022284",
"27165006"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic ataxia 5, autosomal recessive OMIM:614487",
"spastic ataxia 5 MONDO:0013776",
"Spinocerebellar ataxia 28 OMIM:610246",
"spinocerebellar ataxia type 28 MONDO:0012450"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"EMAPII",
"EMAP-2",
"p43"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10648",
"gene_name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
"omim_gene": [
"603605"
],
"alias_name": [
"EMAP II",
"ARS-interacting multifunctional protein 1"
],
"gene_symbol": "AIMP1",
"hgnc_symbol": "AIMP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:107236701-107270383",
"ensembl_id": "ENSG00000164022"
}
},
"GRch38": {
"90": {
"location": "4:106315544-106349226",
"ensembl_id": "ENSG00000164022"
}
}
},
"hgnc_date_symbol_changed": "2009-05-20"
},
"entity_type": "gene",
"entity_name": "AIMP1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21092922",
"30477741",
"30486714"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Leukodystrophy, hypomyelinating, 3, OMIM:260600"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"P5CS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9722",
"gene_name": "aldehyde dehydrogenase 18 family member A1",
"omim_gene": [
"138250"
],
"alias_name": null,
"gene_symbol": "ALDH18A1",
"hgnc_symbol": "ALDH18A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:97365696-97416463",
"ensembl_id": "ENSG00000059573"
}
},
"GRch38": {
"90": {
"location": "10:95605929-95656706",
"ensembl_id": "ENSG00000059573"
}
}
},
"hgnc_date_symbol_changed": "2004-08-12"
},
"entity_type": "gene",
"entity_name": "ALDH18A1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26026163",
"26297558"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature",
"Expert Review Green",
"Other"
],
"phenotypes": [
"Spastic paraplegia 9B, autosomal recessive, 616586",
"SPG9",
"Spastic paraplegia 9A, autosomal dominant, 601162",
"ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT",
"Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FALDH"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:403",
"gene_name": "aldehyde dehydrogenase 3 family member A2",
"omim_gene": [
"609523"
],
"alias_name": [
"fatty aldehyde dehydrogenase"
],
"gene_symbol": "ALDH3A2",
"hgnc_symbol": "ALDH3A2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:19551449-19580911",
"ensembl_id": "ENSG00000072210"
}
},
"GRch38": {
"90": {
"location": "17:19648136-19677598",
"ensembl_id": "ENSG00000072210"
}
}
},
"hgnc_date_symbol_changed": "1996-06-14"
},
"entity_type": "gene",
"entity_name": "ALDH3A2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"8528251",
"9829906",
"16476818",
"25784589",
"29071827",
"29183715",
"29375833",
"29704247",
"30157790",
"30403285",
"31273323",
"31388754",
"31944864",
"32930514",
"34082469",
"34315315"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Sjogren-Larsson syndrome, OMIM:270200"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:443",
"gene_name": "ALS2, alsin Rho guanine nucleotide exchange factor",
"omim_gene": [
"606352"
],
"alias_name": [
"alsin"
],
"gene_symbol": "ALS2",
"hgnc_symbol": "ALS2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:202565277-202645912",
"ensembl_id": "ENSG00000003393"
}
},
"GRch38": {
"90": {
"location": "2:201700554-201781189",
"ensembl_id": "ENSG00000003393"
}
}
},
"hgnc_date_symbol_changed": "1992-11-19"
},
"entity_type": "gene",
"entity_name": "ALS2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12145748",
"15247254",
"27601211"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100",
"Primary lateral sclerosis, juvenile, OMIM:606353",
"Spastic paralysis, infantile onset ascending, OMIM:607225"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BETA-4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:572",
"gene_name": "adaptor related protein complex 4 beta 1 subunit",
"omim_gene": [
"607245"
],
"alias_name": [
"beta 4 subunit of AP-4",
"AP-4 complex subunit beta-1"
],
"gene_symbol": "AP4B1",
"hgnc_symbol": "AP4B1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:114437370-114447823",
"ensembl_id": "ENSG00000134262"
}
},
"GRch38": {
"90": {
"location": "1:113894748-113905201",
"ensembl_id": "ENSG00000134262"
}
}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
"entity_name": "AP4B1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21620353",
"24700674"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 47, autosomal recessive, OMIM:614066",
"Hereditary spastic paraplegia 47, MONDO:0013551"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"AP-4-EPSILON",
"SPG51"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:573",
"gene_name": "adaptor related protein complex 4 epsilon 1 subunit",
"omim_gene": [
"607244"
],
"alias_name": null,
"gene_symbol": "AP4E1",
"hgnc_symbol": "AP4E1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:51200869-51298097",
"ensembl_id": "ENSG00000081014"
}
},
"GRch38": {
"90": {
"location": "15:50908672-51005900",
"ensembl_id": "ENSG00000081014"
}
}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
"entity_name": "AP4E1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20972249",
"21620353",
"23472171"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 51, autosomal recessive, OMIM:613744",
"Hereditary spastic paraplegia 51, MONDO:0013401"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MU-ARP2",
"MU-4",
"SPG50"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:574",
"gene_name": "adaptor related protein complex 4 mu 1 subunit",
"omim_gene": [
"602296"
],
"alias_name": [
"mu-adaptin-related protein-2",
"mu subunit of AP-4",
"AP-4 adapter complex mu subunit",
"adaptor-related protein complex AP-4 mu4 subunit"
],
"gene_symbol": "AP4M1",
"hgnc_symbol": "AP4M1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:99699172-99707968",
"ensembl_id": "ENSG00000221838"
}
},
"GRch38": {
"90": {
"location": "7:100101549-100110345",
"ensembl_id": "ENSG00000221838"
}
}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
"entity_name": "AP4M1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19559397",
"24700674",
"29096665"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 50, autosomal recessive, 612936"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CLA20",
"AP47B",
"SPG52"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:575",
"gene_name": "adaptor related protein complex 4 sigma 1 subunit",
"omim_gene": [
"607243"
],
"alias_name": null,
"gene_symbol": "AP4S1",
"hgnc_symbol": "AP4S1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:31494312-31562818",
"ensembl_id": "ENSG00000100478"
}
},
"GRch38": {
"90": {
"location": "14:31025106-31096450",
"ensembl_id": "ENSG00000100478"
}
}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
"entity_name": "AP4S1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21620353",
"27444738",
"25552650"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"developmental delay",
"seizures",
"Spastic paraplegia 52, autosomal recessive, 614067"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SPG48",
"zeta"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:22197",
"gene_name": "adaptor related protein complex 5 zeta 1 subunit",
"omim_gene": [
"613653"
],
"alias_name": null,
"gene_symbol": "AP5Z1",
"hgnc_symbol": "AP5Z1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:4815253-4833943",
"ensembl_id": "ENSG00000242802"
}
},
"GRch38": {
"90": {
"location": "7:4775622-4794312",
"ensembl_id": "ENSG00000242802"
}
}
},
"hgnc_date_symbol_changed": "2012-03-20"
},
"entity_type": "gene",
"entity_name": "AP5Z1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24833714",
"27606357",
"33543803"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 48, autosomal recessive, OMIM:613647"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:663",
"gene_name": "arginase 1",
"omim_gene": [
"608313"
],
"alias_name": null,
"gene_symbol": "ARG1",
"hgnc_symbol": "ARG1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:131894284-131905472",
"ensembl_id": "ENSG00000118520"
}
},
"GRch38": {
"90": {
"location": "6:131573144-131584332",
"ensembl_id": "ENSG00000118520"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "ARG1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"2365823",
"23859858",
"1463019",
"26310552"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Argininemia, OMIM:207800"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"AIP1",
"ARMER",
"KIAA0069",
"SPG61"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:697",
"gene_name": "ADP ribosylation factor like GTPase 6 interacting protein 1",
"omim_gene": [
"607669"
],
"alias_name": null,
"gene_symbol": "ARL6IP1",
"hgnc_symbol": "ARL6IP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:18802991-18813000",
"ensembl_id": "ENSG00000170540"
}
},
"GRch38": {
"90": {
"location": "16:18791667-18801678",
"ensembl_id": "ENSG00000170540"
}
}
},
"hgnc_date_symbol_changed": "2006-09-26"
},
"entity_type": "gene",
"entity_name": "ARL6IP1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24482476",
"31272422",
"30980493",
"28471035"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Yorkshire and North East GLH",
"Expert list"
],
"phenotypes": [
"Spastic paraplegia 61, autosomal recessive, OMIM:615685",
"hereditary spastic paraplegia 61, MONDO:0014304"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FSP1",
"AD-FSP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11231",
"gene_name": "atlastin GTPase 1",
"omim_gene": [
"606439"
],
"alias_name": [
"atlastin"
],
"gene_symbol": "ATL1",
"hgnc_symbol": "ATL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:50999227-51099786",
"ensembl_id": "ENSG00000198513"
}
},
"GRch38": {
"90": {
"location": "14:50532509-50633068",
"ensembl_id": "ENSG00000198513"
}
}
},
"hgnc_date_symbol_changed": "2008-09-17"
},
"entity_type": "gene",
"entity_name": "ATL1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11685207",
"15517445",
"35925862"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Eligibility statement prior genetic testing",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"UKGTN"
],
"phenotypes": [
"Spastic paraplegia 3A, autosomal dominant,182600",
"Spastic Paraplegia, Dominant"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HSA9947",
"CLN12"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30213",
"gene_name": "ATPase 13A2",
"omim_gene": [
"610513"
],
"alias_name": null,
"gene_symbol": "ATP13A2",
"hgnc_symbol": "ATP13A2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:17312453-17338423",
"ensembl_id": "ENSG00000159363"
}
},
"GRch38": {
"90": {
"location": "1:16985958-17011928",
"ensembl_id": "ENSG00000159363"
}
}
},
"hgnc_date_symbol_changed": "2005-01-12"
},
"entity_type": "gene",
"entity_name": "ATP13A2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28137957",
"27217339",
"27165006"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Adult-onset lower-limb predominant spastic paraparesis",
"Spastic paraplegia 78, autosomal recessive, 617225",
"complicated hereditary spastic paraplegia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"beta1-4GalNAc-T"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4117",
"gene_name": "beta-1,4-N-acetyl-galactosaminyltransferase 1",
"omim_gene": [
"601873"
],
"alias_name": [
"GD2 synthase, GM2 synthase"
],
"gene_symbol": "B4GALNT1",
"hgnc_symbol": "B4GALNT1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:58017193-58027138",
"ensembl_id": "ENSG00000135454"
}
},
"GRch38": {
"90": {
"location": "12:57623410-57633355",
"ensembl_id": "ENSG00000135454"
}
}
},
"hgnc_date_symbol_changed": "2006-01-08"
},
"entity_type": "gene",
"entity_name": "B4GALNT1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23746551",
"24283893"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 26, autosomal recessive, 609195"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ20128"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14347",
"gene_name": "BCAS3, microtubule associated cell migration factor",
"omim_gene": [
"607470"
],
"alias_name": [
"Rudhira"
],
"gene_symbol": "BCAS3",
"hgnc_symbol": "BCAS3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:58754814-59470199",
"ensembl_id": "ENSG00000141376"
}
},
"GRch38": {
"90": {
"location": "17:60677453-61392838",
"ensembl_id": "ENSG00000141376"
}
}
},
"hgnc_date_symbol_changed": "2001-01-09"
},
"entity_type": "gene",
"entity_name": "BCAS3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"34022130"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Syndromic neurodevelopmental disorder"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15832",
"gene_name": "BSCL2, seipin lipid droplet biogenesis associated",
"omim_gene": [
"606158"
],
"alias_name": null,
"gene_symbol": "BSCL2",
"hgnc_symbol": "BSCL2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:62457747-62477317",
"ensembl_id": "ENSG00000168000"
}
},
"GRch38": {
"90": {
"location": "11:62690275-62709845",
"ensembl_id": "ENSG00000168000"
}
}
},
"hgnc_date_symbol_changed": "2001-07-02"
},
"entity_type": "gene",
"entity_name": "BSCL2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"13680364",
"14981520",
"17387721"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Silver spastic paraplegia syndrome, OMIM:270685",
"Neuropathy, distal hereditary motor, type VC, OMIM:619112"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ38663",
"SPG55"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26784",
"gene_name": "chromosome 12 open reading frame 65",
"omim_gene": [
"613541"
],
"alias_name": null,
"gene_symbol": "C12orf65",
"hgnc_symbol": "C12orf65",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:123717463-123742506",
"ensembl_id": "ENSG00000130921"
}
},
"GRch38": {
"90": {
"location": "12:123232916-123257959",
"ensembl_id": "ENSG00000130921"
}
}
},
"hgnc_date_symbol_changed": "2007-02-26"
},
"entity_type": "gene",
"entity_name": "C12orf65",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23188110",
"24424123"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 55, autosomal recessive, OMIM:615035"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"new-gene-name"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC10922",
"DKFZP762D096",
"NBIA4",
"MPAN"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25443",
"gene_name": "chromosome 19 open reading frame 12",
"omim_gene": [
"614297"
],
"alias_name": [
"neurodegeneration with brain iron accumulation 4",
"membrane protein-associated neurodegeneration"
],
"gene_symbol": "C19orf12",
"hgnc_symbol": "C19orf12",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:30191721-30206364",
"ensembl_id": "ENSG00000131943"
}
},
"GRch38": {
"90": {
"location": "19:29698886-29715789",
"ensembl_id": "ENSG00000131943"
}
}
},
"hgnc_date_symbol_changed": "2004-02-11"
},
"entity_type": "gene",
"entity_name": "C19orf12",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23857908",
"26539891",
"23269600",
"21981780",
"29295770",
"31087512"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"?Spastic paraplegia 43, autosomal recessive, OMIM:615043",
"Neurodegeneration with brain iron accumulation 4, OMIM: 614298"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"muCANP",
"muCL",
"CANP",
"CANPL1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1476",
"gene_name": "calpain 1",
"omim_gene": [
"114220"
],
"alias_name": null,
"gene_symbol": "CAPN1",
"hgnc_symbol": "CAPN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:64948037-64979477",
"ensembl_id": "ENSG00000014216"
}
},
"GRch38": {
"90": {
"location": "11:65180566-65212006",
"ensembl_id": "ENSG00000014216"
}
}
},
"hgnc_date_symbol_changed": "1989-06-30"
},
"entity_type": "gene",
"entity_name": "CAPN1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27153400",
"29678961",
"28566166"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert list"
],
"phenotypes": [
"Spastic paraplegia 76 autosomal recessive, 616907"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ23809",
"CPTIC",
"CPT1P"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18540",
"gene_name": "carnitine palmitoyltransferase 1C",
"omim_gene": [
"608846"
],
"alias_name": null,
"gene_symbol": "CPT1C",
"hgnc_symbol": "CPT1C",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:50194155-50216988",
"ensembl_id": "ENSG00000169169"
}
},
"GRch38": {
"90": {
"location": "19:49690898-49713731",
"ensembl_id": "ENSG00000169169"
}
}
},
"hgnc_date_symbol_changed": "2003-11-27"
},
"entity_type": "gene",
"entity_name": "CPT1C",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25751282",
"30564185",
"30911584"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH"
],
"phenotypes": [
"Spastic paraplegia 73, autosomal dominant, OMIM:616282"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"beta-catenin",
"armadillo"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2514",
"gene_name": "catenin beta 1",
"omim_gene": [
"116806"
],
"alias_name": null,
"gene_symbol": "CTNNB1",
"hgnc_symbol": "CTNNB1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:41236328-41301587",
"ensembl_id": "ENSG00000168036"
}
},
"GRch38": {
"90": {
"location": "3:41194837-41260096",
"ensembl_id": "ENSG00000168036"
}
}
},
"hgnc_date_symbol_changed": "1993-07-13"
},
"entity_type": "gene",
"entity_name": "CTNNB1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"23033978",
"24614104",
"25326669",
"26968164",
"27915094",
"34321325"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"CTX",
"CP27"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2605",
"gene_name": "cytochrome P450 family 27 subfamily A member 1",
"omim_gene": [
"606530"
],
"alias_name": [
"cerebrotendinous xanthomatosis"
],
"gene_symbol": "CYP27A1",
"hgnc_symbol": "CYP27A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:219646472-219680016",
"ensembl_id": "ENSG00000135929"
}
},
"GRch38": {
"90": {
"location": "2:218781749-218815293",
"ensembl_id": "ENSG00000135929"
}
}
},
"hgnc_date_symbol_changed": "1991-08-22"
},
"entity_type": "gene",
"entity_name": "CYP27A1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25862734",
"27455001",
"26874936",
"29321515",
"28623566"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Cerebrotendinous xanthomatosis, 213700",
"progressive lower extremity spasticity,often disproportionate to any degree of weakness"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SPG49"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20582",
"gene_name": "cytochrome P450 family 2 subfamily U member 1",
"omim_gene": [
"610670"
],
"alias_name": [
"spastic paraplegia 49"
],
"gene_symbol": "CYP2U1",
"hgnc_symbol": "CYP2U1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:108852525-108874613",
"ensembl_id": "ENSG00000155016"
}
},
"GRch38": {
"90": {
"location": "4:107931369-107953457",
"ensembl_id": "ENSG00000155016"
}
}
},
"hgnc_date_symbol_changed": "2004-03-11"
},
"entity_type": "gene",
"entity_name": "CYP2U1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23176821",
"24337409"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 56, autosomal recessive, 615030"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2652",
"gene_name": "cytochrome P450 family 7 subfamily B member 1",
"omim_gene": [
"603711"
],
"alias_name": null,
"gene_symbol": "CYP7B1",
"hgnc_symbol": "CYP7B1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:65500320-65711318",
"ensembl_id": "ENSG00000172817"
}
},
"GRch38": {
"90": {
"location": "8:64587763-64798761",
"ensembl_id": "ENSG00000172817"
}
}
},
"hgnc_date_symbol_changed": "1999-06-02"
},
"entity_type": "gene",
"entity_name": "CYP7B1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19439420",
"18252231",
"19187859",
"29126212"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 5A, autosomal recessive, OMIM:270800"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2678",
"gene_name": "aspartyl-tRNA synthetase",
"omim_gene": [
"603084"
],
"alias_name": [
"aspartate tRNA ligase 1, cytoplasmic"
],
"gene_symbol": "DARS",
"hgnc_symbol": "DARS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:136664247-136743670",
"ensembl_id": "ENSG00000115866"
}
},
"GRch38": {
"90": {
"location": "2:135906677-135986100",
"ensembl_id": "ENSG00000115866"
}
}
},
"hgnc_date_symbol_changed": "1998-04-22"
},
"entity_type": "gene",
"entity_name": "DARS",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23643384",
"25527264"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"leg spasticity",
"Brain stem and spinal cord Hypomyelination",
"Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"new-gene-name"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1705",
"PA-PLA1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19714",
"gene_name": "DDHD domain containing 1",
"omim_gene": [
"614603"
],
"alias_name": [
"phosphatidic acid-preferring phospholipase A1"
],
"gene_symbol": "DDHD1",
"hgnc_symbol": "DDHD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:53510686-53620000",
"ensembl_id": "ENSG00000100523"
}
},
"GRch38": {
"90": {
"location": "14:53036745-53153282",
"ensembl_id": "ENSG00000100523"
}
}
},
"hgnc_date_symbol_changed": "2002-11-20"
},
"entity_type": "gene",
"entity_name": "DDHD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23176821",
"24989667",
"26944165"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 28, autosomal recessive, 609340"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0725",
"SPG54"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29106",
"gene_name": "DDHD domain containing 2",
"omim_gene": [
"615003"
],
"alias_name": null,
"gene_symbol": "DDHD2",
"hgnc_symbol": "DDHD2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:38082736-38133076",
"ensembl_id": "ENSG00000085788"
}
},
"GRch38": {
"90": {
"location": "8:38225218-38275558",
"ensembl_id": "ENSG00000085788"
}
}
},
"hgnc_date_symbol_changed": "2004-04-07"
},
"entity_type": "gene",
"entity_name": "DDHD2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23176823",
"23486545",
"25417924"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 54, autosomal recessive, 615033"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DBX",
"HLP2",
"DDX14"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2745",
"gene_name": "DEAD-box helicase 3, X-linked",
"omim_gene": [
"300160"
],
"alias_name": null,
"gene_symbol": "DDX3X",
"hgnc_symbol": "DDX3X",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:41192651-41223725",
"ensembl_id": "ENSG00000215301"
}
},
"GRch38": {
"90": {
"location": "X:41333348-41364472",
"ensembl_id": "ENSG00000215301"
}
}
},
"hgnc_date_symbol_changed": "2003-06-20"
},
"entity_type": "gene",
"entity_name": "DDX3X",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"26235985",
"29490693",
"30936465",
"32852922"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"Ssc1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14418",
"gene_name": "ELOVL fatty acid elongase 1",
"omim_gene": [
"611813"
],
"alias_name": null,
"gene_symbol": "ELOVL1",
"hgnc_symbol": "ELOVL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:43829068-43833696",
"ensembl_id": "ENSG00000066322"
}
},
"GRch38": {
"90": {
"location": "1:43363397-43368074",
"ensembl_id": "ENSG00000066322"
}
}
},
"hgnc_date_symbol_changed": "2001-01-18"
},
"entity_type": "gene",
"entity_name": "ELOVL1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"23689133",
"29496980",
"30487246",
"32123819"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"missense"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"NTPDase-1",
"ATPDase",
"SPG64"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3363",
"gene_name": "ectonucleoside triphosphate diphosphohydrolase 1",
"omim_gene": [
"601752"
],
"alias_name": null,
"gene_symbol": "ENTPD1",
"hgnc_symbol": "ENTPD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:97471536-97637023",
"ensembl_id": "ENSG00000138185"
}
},
"GRch38": {
"90": {
"location": "10:95711779-95869695",
"ensembl_id": "ENSG00000138185"
}
}
},
"hgnc_date_symbol_changed": "1994-12-09"
},
"entity_type": "gene",
"entity_name": "ENTPD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24482476",
"29691679",
"30652007"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Yorkshire and North East GLH",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 64, autosomal recessive, OMIM:615683"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KE04",
"Erlin-1",
"SPG62"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16947",
"gene_name": "ER lipid raft associated 1",
"omim_gene": [
"611604"
],
"alias_name": [
"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"
],
"gene_symbol": "ERLIN1",
"hgnc_symbol": "ERLIN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:101909851-101948091",
"ensembl_id": "ENSG00000107566"
}
},
"GRch38": {
"90": {
"location": "10:100150094-100188334",
"ensembl_id": "ENSG00000107566"
}
}
},
"hgnc_date_symbol_changed": "2007-01-26"
},
"entity_type": "gene",
"entity_name": "ERLIN1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24482476"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Other"
],
"phenotypes": [
"Hereditary spastic paraplegia",
"Spastic paraplegia 62, 615681"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NET32",
"Erlin-2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1356",
"gene_name": "ER lipid raft associated 2",
"omim_gene": [
"611605"
],
"alias_name": null,
"gene_symbol": "ERLIN2",
"hgnc_symbol": "ERLIN2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:37594117-37616619",
"ensembl_id": "ENSG00000147475"
}
},
"GRch38": {
"90": {
"location": "8:37736599-37759101",
"ensembl_id": "ENSG00000147475"
}
}
},
"hgnc_date_symbol_changed": "2007-01-26"
},
"entity_type": "gene",
"entity_name": "ERLIN2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21330303",
"21796390",
"29691679",
"29528531",
"23109145",
"22554690",
"23085305",
"27824013",
"29528531",
"23109142",
"28832565",
"21330303",
"23897027",
"21796390",
"25977983"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia, autosomal dominant",
"Spastic paraplegia 18, autosomal recessive, 611225",
"hereditary spastic paraplegia",
"neurodegeneration"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FAAH",
"FLJ25287"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:21197",
"gene_name": "fatty acid 2-hydroxylase",
"omim_gene": [
"611026"
],
"alias_name": [
"fatty acid hydroxylase"
],
"gene_symbol": "FA2H",
"hgnc_symbol": "FA2H",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:74746853-74808729",
"ensembl_id": "ENSG00000103089"
}
},
"GRch38": {
"90": {
"location": "16:74712955-74774831",
"ensembl_id": "ENSG00000103089"
}
}
},
"hgnc_date_symbol_changed": "2003-10-31"
},
"entity_type": "gene",
"entity_name": "FA2H",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19068277",
"20853438"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 35, autosomal recessive, 612319"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ22728",
"SDR10E1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26222",
"gene_name": "fatty acyl-CoA reductase 1",
"omim_gene": [
"616107"
],
"alias_name": [
"short chain dehydrogenase/reductase family 10E, member 1"
],
"gene_symbol": "FAR1",
"hgnc_symbol": "FAR1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:13690217-13753893",
"ensembl_id": "ENSG00000197601"
}
},
"GRch38": {
"90": {
"location": "11:13668670-13732346",
"ensembl_id": "ENSG00000197601"
}
}
},
"hgnc_date_symbol_changed": "2008-06-06"
},
"entity_type": "gene",
"entity_name": "FAR1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"25439727",
"30561787",
"33239752"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"dJ236A3.1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:21062",
"gene_name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
"omim_gene": [
"611592"
],
"alias_name": [
"phenylalanine tRNA ligase 2, mitochondrial"
],
"gene_symbol": "FARS2",
"hgnc_symbol": "FARS2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:5261277-5771813",
"ensembl_id": "ENSG00000145982"
}
},
"GRch38": {
"90": {
"location": "6:5261044-5771580",
"ensembl_id": "ENSG00000145982"
}
}
},
"hgnc_date_symbol_changed": "2004-12-03"
},
"entity_type": "gene",
"entity_name": "FARS2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26553276",
"30250868",
"25851414",
"29126765"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature",
"Expert Review Green"
],
"phenotypes": [
"Spastic paraplegia 77, autosomal recessive, 617046"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FA",
"FARR",
"X25",
"CyaY"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3951",
"gene_name": "frataxin",
"omim_gene": [
"606829"
],
"alias_name": null,
"gene_symbol": "FXN",
"hgnc_symbol": "FXN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:71650175-71715094",
"ensembl_id": "ENSG00000165060"
}
},
"GRch38": {
"90": {
"location": "9:69035259-69100178",
"ensembl_id": "ENSG00000165060"
}
}
},
"hgnc_date_symbol_changed": "2004-08-19"
},
"entity_type": "gene",
"entity_name": "FXN",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"8596916",
"9150176",
"9737785",
"21830088"
],
"evidence": [
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
"Friedreich ataxia OMIM:229300",
"Friedreich ataxia with retained reflexes OMIM:229300",
"Friedreich ataxia 1 MONDO:0100340"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"nucleotide-repeat-expansion"
],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4115",
"gene_name": "galactosylceramidase",
"omim_gene": [
"606890"
],
"alias_name": [
"Krabbe disease"
],
"gene_symbol": "GALC",
"hgnc_symbol": "GALC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:88304164-88460009",
"ensembl_id": "ENSG00000054983"
}
},
"GRch38": {
"90": {
"location": "14:87837820-87993665",
"ensembl_id": "ENSG00000054983"
}
}
},
"hgnc_date_symbol_changed": "1989-06-02"
},
"entity_type": "gene",
"entity_name": "GALC",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"20886637",
"21070211",
"26396125",
"28547031",
"30089515",
"31185936"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Krabbe disease OMIM:245200"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"KIAA1605",
"AD035",
"DKFZp762K054"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18986",
"gene_name": "glucosylceramidase beta 2",
"omim_gene": [
"609471"
],
"alias_name": [
"bile acid beta-glucosidase",
"non-lysosomal glucosylceramidase"
],
"gene_symbol": "GBA2",
"hgnc_symbol": "GBA2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:35736863-35749983",
"ensembl_id": "ENSG00000070610"
}
},
"GRch38": {
"90": {
"location": "9:35736866-35749228",
"ensembl_id": "ENSG00000070610"
}
}
},
"hgnc_date_symbol_changed": "2002-07-25"
},
"entity_type": "gene",
"entity_name": "GBA2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23332916",
"24337409",
"24252062"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 46, autosomal recessive, 614409"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GTPCH1",
"DYT5a"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4193",
"gene_name": "GTP cyclohydrolase 1",
"omim_gene": [
"600225"
],
"alias_name": [
"dopa-responsive dystonia"
],
"gene_symbol": "GCH1",
"hgnc_symbol": "GCH1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:55308726-55369570",
"ensembl_id": "ENSG00000131979"
}
},
"GRch38": {
"90": {
"location": "14:54842008-54902852",
"ensembl_id": "ENSG00000131979"
}
}
},
"hgnc_date_symbol_changed": "1988-05-11"
},
"entity_type": "gene",
"entity_name": "GCH1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24509643",
"21935284"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230",
"Dystonia",
"progressive spastic paraplegia",
"Spastic paraplegia"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CX43",
"ODD",
"ODOD",
"SDTY3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4274",
"gene_name": "gap junction protein alpha 1",
"omim_gene": [
"121014"
],
"alias_name": [
"oculodentodigital dysplasia (syndactyly type III)",
"connexin 43"
],
"gene_symbol": "GJA1",
"hgnc_symbol": "GJA1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:121756838-121770873",
"ensembl_id": "ENSG00000152661"
}
},
"GRch38": {
"90": {
"location": "6:121435692-121449727",
"ensembl_id": "ENSG00000152661"
}
}
},
"hgnc_date_symbol_changed": "1990-08-03"
},
"entity_type": "gene",
"entity_name": "GJA1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"18660473",
"29927410",
"31023660"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Oculodentodigital dysplasia, OMIM:164200",
"Spastic paraplegia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"PR01238",
"GRX5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20134",
"gene_name": "glutaredoxin 5",
"omim_gene": [
"609588"
],
"alias_name": null,
"gene_symbol": "GLRX5",
"hgnc_symbol": "GLRX5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:95999840-96011061",
"ensembl_id": "ENSG00000182512"
}
},
"GRch38": {
"90": {
"location": "14:95533503-95544724",
"ensembl_id": "ENSG00000182512"
}
}
},
"hgnc_date_symbol_changed": "2005-11-11"
},
"entity_type": "gene",
"entity_name": "GLRX5",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"24334290",
"30770271"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ALT2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18062",
"gene_name": "glutamic--pyruvic transaminase 2",
"omim_gene": [
"138210"
],
"alias_name": [
"alanine aminotransferase 2"
],
"gene_symbol": "GPT2",
"hgnc_symbol": "GPT2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:46918290-46965209",
"ensembl_id": "ENSG00000166123"
}
},
"GRch38": {
"90": {
"location": "16:46884378-46931297",
"ensembl_id": "ENSG00000166123"
}
}
},
"hgnc_date_symbol_changed": "2002-03-05"
},
"entity_type": "gene",
"entity_name": "GPT2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"27601654",
"28130718",
"29226631",
"29882329",
"31471722"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1320"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:21033",
"gene_name": "HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1",
"omim_gene": [
"610876"
],
"alias_name": null,
"gene_symbol": "HACE1",
"hgnc_symbol": "HACE1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:105175968-105307794",
"ensembl_id": "ENSG00000085382"
}
},
"GRch38": {
"90": {
"location": "6:104728093-104859919",
"ensembl_id": "ENSG00000085382"
}
}
},
"hgnc_date_symbol_changed": "2003-05-07"
},
"entity_type": "gene",
"entity_name": "HACE1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26424145",
"26437029",
"29423242",
"31321300",
"33813722"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Spastic paraplegia and psychomotor retardation with or without seizures, 616756",
"Spastic paraplegia",
"seizure",
"psychomotor retardation"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HSPC138",
"HSPC179",
"OPI10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26938",
"gene_name": "Hikeshi, heat shock protein nuclear import factor",
"omim_gene": [
"614908"
],
"alias_name": null,
"gene_symbol": "HIKESHI",
"hgnc_symbol": "HIKESHI",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:86013253-86056969",
"ensembl_id": "ENSG00000149196"
}
},
"GRch38": {
"90": {
"location": "11:86302211-86345931",
"ensembl_id": "ENSG00000149196"
}
}
},
"hgnc_date_symbol_changed": "2016-06-07"
},
"entity_type": "gene",
"entity_name": "HIKESHI",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"26545878",
"28000699"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Leukodystrophy, hypomyelinating, 13, OMIM:616881"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"MGC15668",
"4-HPPD-L"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28242",
"gene_name": "4-hydroxyphenylpyruvate dioxygenase like",
"omim_gene": null,
"alias_name": null,
"gene_symbol": "HPDL",
"hgnc_symbol": "HPDL",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:45792545-45794347",
"ensembl_id": "ENSG00000186603"
}
},
"GRch38": {
"90": {
"location": "1:45326905-45328533",
"ensembl_id": "ENSG00000186603"
}
}
},
"hgnc_date_symbol_changed": "2007-03-14"
},
"entity_type": "gene",
"entity_name": "HPDL",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": null,
"publications": [
"32707086",
"33188300",
"33970200"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026",
"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613",
"Spastic paraplegia 83, autosomal recessive, OMIM:619027",
"Spastic paraplegia 83, autosomal recessive, MONDO:0033614"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"GroEL",
"HSP60"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:5261",
"gene_name": "heat shock protein family D (Hsp60) member 1",
"omim_gene": [
"118190"
],
"alias_name": null,
"gene_symbol": "HSPD1",
"hgnc_symbol": "HSPD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:198351305-198381461",
"ensembl_id": "ENSG00000144381"
}
},
"GRch38": {
"90": {
"location": "2:197486581-197516737",
"ensembl_id": "ENSG00000144381"
}
}
},
"hgnc_date_symbol_changed": "1991-07-19"
},
"entity_type": "gene",
"entity_name": "HSPD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18571143",
"27405012"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Leukodystrophy, hypomyelinating, 4, OMIM:612233"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MDA-5",
"Hlcd",
"MDA5",
"IDDM19"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18873",
"gene_name": "interferon induced with helicase C domain 1",
"omim_gene": [
"606951"
],
"alias_name": [
"helicard",
"melanoma differentiation-associated gene 5"
],
"gene_symbol": "IFIH1",
"hgnc_symbol": "IFIH1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:163123589-163175213",
"ensembl_id": "ENSG00000115267"
}
},
"GRch38": {
"90": {
"location": "2:162267079-162318703",
"ensembl_id": "ENSG00000115267"
}
}
},
"hgnc_date_symbol_changed": "2004-06-25"
},
"entity_type": "gene",
"entity_name": "IFIH1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"25243380",
"31427910",
"24686847",
"24995871"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Aicardi-Goutieres syndrome 7, OMIM:615846"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Kv1.2",
"HK4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6220",
"gene_name": "potassium voltage-gated channel subfamily A member 2",
"omim_gene": [
"176262"
],
"alias_name": null,
"gene_symbol": "KCNA2",
"hgnc_symbol": "KCNA2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:111136202-111174096",
"ensembl_id": "ENSG00000177301"
}
},
"GRch38": {
"90": {
"location": "1:110519837-110631474",
"ensembl_id": "ENSG00000177301"
}
}
},
"hgnc_date_symbol_changed": "1991-08-13"
},
"entity_type": "gene",
"entity_name": "KCNA2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27543892",
"28032718"
],
"evidence": [
"Yorkshire and North East GLH",
"Expert Review Green",
"NHS GMS",
"London North GLH"
],
"phenotypes": [
"hereditary spastic paraplegia and ataxia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DXS1272E",
"XE169"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11114",
"gene_name": "lysine demethylase 5C",
"omim_gene": [
"314690"
],
"alias_name": null,
"gene_symbol": "KDM5C",
"hgnc_symbol": "KDM5C",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:53220503-53254604",
"ensembl_id": "ENSG00000126012"
}
},
"GRch38": {
"90": {
"location": "X:53191321-53225422",
"ensembl_id": "ENSG00000126012"
}
}
},
"hgnc_date_symbol_changed": "2009-04-06"
},
"entity_type": "gene",
"entity_name": "KDM5C",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10982473",
"15586325",
"18697827",
"19826449",
"26919706",
"32279304"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ARMS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29508",
"gene_name": "kinase D interacting substrate 220",
"omim_gene": [
"615759"
],
"alias_name": [
"ankyrin repeat-rich membrane-spanning protein"
],
"gene_symbol": "KIDINS220",
"hgnc_symbol": "KIDINS220",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:8865408-8977760",
"ensembl_id": "ENSG00000134313"
}
},
"GRch38": {
"90": {
"location": "2:8721081-8837630",
"ensembl_id": "ENSG00000134313"
}
}
},
"hgnc_date_symbol_changed": "2008-11-25"
},
"entity_type": "gene",
"entity_name": "KIDINS220",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27005418",
"29667355",
"31630374"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Other"
],
"phenotypes": [
"Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"UNC104"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:888",
"gene_name": "kinesin family member 1A",
"omim_gene": [
"601255"
],
"alias_name": null,
"gene_symbol": "KIF1A",
"hgnc_symbol": "KIF1A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:241653181-241759725",
"ensembl_id": "ENSG00000130294"
}
},
"GRch38": {
"90": {
"location": "2:240713764-240820308",
"ensembl_id": "ENSG00000130294"
}
}
},
"hgnc_date_symbol_changed": "2004-01-14"
},
"entity_type": "gene",
"entity_name": "KIF1A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21487076",
"22258533",
"28332297",
"25265257",
"25585697",
"26125038",
"26410750",
"28970574",
"31805580",
"31813911",
"32737135",
"32746806",
"34121983"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 30, autosomal dominant, OMIM:610357",
"Spastic paraplegia 30, autosomal recessive, OMIM:610357",
"NESCAV syndrome, OMIM:614255"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SPAX2",
"SPG58"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6317",
"gene_name": "kinesin family member 1C",
"omim_gene": [
"603060"
],
"alias_name": null,
"gene_symbol": "KIF1C",
"hgnc_symbol": "KIF1C",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:4901243-4931696",
"ensembl_id": "ENSG00000129250"
}
},
"GRch38": {
"90": {
"location": "17:4997948-5028401",
"ensembl_id": "ENSG00000129250"
}
}
},
"hgnc_date_symbol_changed": "1998-09-25"
},
"entity_type": "gene",
"entity_name": "KIF1C",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24319291",
"24482476",
"24808017",
"29544888",
"31413903"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic ataxia 2, autosomal recessive, OMIM:611302"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"D12S1889",
"NKHC",
"MY050"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6323",
"gene_name": "kinesin family member 5A",
"omim_gene": [
"602821"
],
"alias_name": null,
"gene_symbol": "KIF5A",
"hgnc_symbol": "KIF5A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:57943781-57980415",
"ensembl_id": "ENSG00000155980"
}
},
"GRch38": {
"90": {
"location": "12:57549998-57586632",
"ensembl_id": "ENSG00000155980"
}
}
},
"hgnc_date_symbol_changed": "1998-08-24"
},
"entity_type": "gene",
"entity_name": "KIF5A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12355402",
"25352184"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 10, autosomal dominant, 604187"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SRP1gamma",
"SRP4",
"hSRP1",
"IPOA4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6396",
"gene_name": "karyopherin subunit alpha 3",
"omim_gene": [
"601892"
],
"alias_name": [
"importin alpha 4",
"importin subunit alpha-4"
],
"gene_symbol": "KPNA3",
"hgnc_symbol": "KPNA3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:50273447-50367057",
"ensembl_id": "ENSG00000102753"
}
},
"GRch38": {
"90": {
"location": "13:49699307-49792921",
"ensembl_id": "ENSG00000102753"
}
}
},
"hgnc_date_symbol_changed": "1997-03-19"
},
"entity_type": "gene",
"entity_name": "KPNA3",
"confidence_level": "3",
"penetrance": "unknown",
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"publications": [
"34564892"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"autosomal dominant pure spastic paraplegia, MONDO:0015088"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD171"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6470",
"gene_name": "L1 cell adhesion molecule",
"omim_gene": [
"308840"
],
"alias_name": [
"neural cell adhesion molecule L1"
],
"gene_symbol": "L1CAM",
"hgnc_symbol": "L1CAM",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:153126969-153174677",
"ensembl_id": "ENSG00000198910"
}
},
"GRch38": {
"90": {
"location": "X:153861514-153909223",
"ensembl_id": "ENSG00000198910"
}
}
},
"hgnc_date_symbol_changed": "1989-06-30"
},
"entity_type": "gene",
"entity_name": "L1CAM",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"7920659",
"7920660",
"7562969"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"UKGTN"
],
"phenotypes": [
"CRASH syndrome, OMIM:303350",
"MASA syndrome, OMIM:303350",
"Hydrocephalus due to aqueductal stenosis, OMIM:307000",
"Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000",
"Hydrocephalus with Hirschsprung disease, OMIM:307000"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SIGLEC4A",
"SIGLEC-4A",
"S-MAG"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6783",
"gene_name": "myelin associated glycoprotein",
"omim_gene": [
"159460"
],
"alias_name": [
"sialic acid binding Ig-like lectin 4A"
],
"gene_symbol": "MAG",
"hgnc_symbol": "MAG",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:35783028-35804707",
"ensembl_id": "ENSG00000105695"
}
},
"GRch38": {
"90": {
"location": "19:35292125-35313804",
"ensembl_id": "ENSG00000105695"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "MAG",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24482476",
"26179919",
"31402626",
"32629324",
"32340215"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"Spastic paraplegia 75, autosomal recessive, OMIM:616680"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1066",
"JSAP1",
"JIP3",
"syd"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6884",
"gene_name": "mitogen-activated protein kinase 8 interacting protein 3",
"omim_gene": [
"605431"
],
"alias_name": [
"homolog of Drosophila Sunday driver 2"
],
"gene_symbol": "MAPK8IP3",
"hgnc_symbol": "MAPK8IP3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:1756184-1820318",
"ensembl_id": "ENSG00000138834"
}
},
"GRch38": {
"90": {
"location": "16:1706183-1770317",
"ensembl_id": "ENSG00000138834"
}
}
},
"hgnc_date_symbol_changed": "2000-08-22"
},
"entity_type": "gene",
"entity_name": "MAPK8IP3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"30612693",
"30945334"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DAP13",
"B17.2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23987",
"gene_name": "NADH:ubiquinone oxidoreductase subunit A12",
"omim_gene": [
"614530"
],
"alias_name": [
"complex I B17.2 subunit"
],
"gene_symbol": "NDUFA12",
"hgnc_symbol": "NDUFA12",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:95290831-95397546",
"ensembl_id": "ENSG00000184752"
}
},
"GRch38": {
"90": {
"location": "12:94897055-95003770",
"ensembl_id": "ENSG00000184752"
}
}
},
"hgnc_date_symbol_changed": "2005-07-19"
},
"entity_type": "gene",
"entity_name": "NDUFA12",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"21617257",
"33715266",
"35141356"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"South West GLH",
"PanelApp"
],
"phenotypes": [
"Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"MGC35570"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17043",
"gene_name": "non imprinted in Prader-Willi/Angelman syndrome 1",
"omim_gene": [
"608145"
],
"alias_name": null,
"gene_symbol": "NIPA1",
"hgnc_symbol": "NIPA1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:23043277-23100005",
"ensembl_id": "ENSG00000170113"
}
},
"GRch38": {
"90": {
"location": "15:22773063-22829791",
"ensembl_id": "ENSG00000170113"
}
}
},
"hgnc_date_symbol_changed": "2004-01-23"
},
"entity_type": "gene",
"entity_name": "NIPA1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"15711826",
"14508710",
"15643603"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 6, autosomal dominant, 600363"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NKX6B",
"GTX",
"NKX6.1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19321",
"gene_name": "NK6 homeobox 2",
"omim_gene": [
"605955"
],
"alias_name": null,
"gene_symbol": "NKX6-2",
"hgnc_symbol": "NKX6-2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:134598297-134599556",
"ensembl_id": "ENSG00000148826"
}
},
"GRch38": {
"90": {
"location": "10:132783179-132786052",
"ensembl_id": "ENSG00000148826"
}
}
},
"hgnc_date_symbol_changed": "2002-10-03"
},
"entity_type": "gene",
"entity_name": "NKX6-2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"15601927",
"28575651",
"29388673"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature",
"Expert Review Green"
],
"phenotypes": [
"Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZP434K1421",
"NSrp70"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25305",
"gene_name": "nuclear speckle splicing regulatory protein 1",
"omim_gene": [
"616173"
],
"alias_name": null,
"gene_symbol": "NSRP1",
"hgnc_symbol": "NSRP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:28442539-28513493",
"ensembl_id": "ENSG00000126653"
}
},
"GRch38": {
"90": {
"location": "17:30115521-30186475",
"ensembl_id": "ENSG00000126653"
}
}
},
"hgnc_date_symbol_changed": "2011-05-24"
},
"entity_type": "gene",
"entity_name": "NSRP1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"34385670"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"NSRP1-associated developmental delay, epilepsy and microcephaly"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"PNT5",
"GMP",
"cN-II",
"SPG65"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8022",
"gene_name": "5'-nucleotidase, cytosolic II",
"omim_gene": [
"600417"
],
"alias_name": [
"purine 5' nucleotidase"
],
"gene_symbol": "NT5C2",
"hgnc_symbol": "NT5C2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:104845940-104953056",
"ensembl_id": "ENSG00000076685"
}
},
"GRch38": {
"90": {
"location": "10:103088017-103193306",
"ensembl_id": "ENSG00000076685"
}
}
},
"hgnc_date_symbol_changed": "2002-04-19"
},
"entity_type": "gene",
"entity_name": "NT5C2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19415352",
"24482476",
"28327087",
"28884889",
"29123918",
"32153630"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 45, autosomal recessive, 613162"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ22187",
"MGA3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8142",
"gene_name": "OPA3, outer mitochondrial membrane lipid metabolism regulator",
"omim_gene": [
"606580"
],
"alias_name": null,
"gene_symbol": "OPA3",
"hgnc_symbol": "OPA3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:46030685-46105470",
"ensembl_id": "ENSG00000125741"
}
},
"GRch38": {
"90": {
"location": "19:45527427-45602212",
"ensembl_id": "ENSG00000125741"
}
}
},
"hgnc_date_symbol_changed": "1999-03-12"
},
"entity_type": "gene",
"entity_name": "OPA3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11668429",
"24944951",
"25201222",
"25657044",
"20301646"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature",
"Expert Review Green",
"Other"
],
"phenotypes": [
"3-methylglutaconic aciduria, type III, 258501",
"Costeff syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ET"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8756",
"gene_name": "phosphate cytidylyltransferase 2, ethanolamine",
"omim_gene": [
"602679"
],
"alias_name": [
"CTP:phosphoethanolamine cytidylyltransferase"
],
"gene_symbol": "PCYT2",
"hgnc_symbol": "PCYT2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:79858841-79869340",
"ensembl_id": "ENSG00000185813"
}
},
"GRch38": {
"90": {
"location": "17:81900965-81911464",
"ensembl_id": "ENSG00000185813"
}
}
},
"hgnc_date_symbol_changed": "1997-06-09"
},
"entity_type": "gene",
"entity_name": "PCYT2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"31637422"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Spastic paraplegia 82, autosomal recessive, 618770"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"GPM6C"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9086",
"gene_name": "proteolipid protein 1",
"omim_gene": [
"300401"
],
"alias_name": [
"Pelizaeus-Merzbacher disease"
],
"gene_symbol": "PLP1",
"hgnc_symbol": "PLP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:103028647-103047548",
"ensembl_id": "ENSG00000123560"
}
},
"GRch38": {
"90": {
"location": "X:103773718-103792619",
"ensembl_id": "ENSG00000123560"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "PLP1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"8012387"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 2, X-linked, 312920"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NTE",
"sws",
"iPLA2delta",
"SPG39"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16268",
"gene_name": "patatin like phospholipase domain containing 6",
"omim_gene": [
"603197"
],
"alias_name": [
"neuropathy target esterase"
],
"gene_symbol": "PNPLA6",
"hgnc_symbol": "PNPLA6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:7598890-7626650",
"ensembl_id": "ENSG00000032444"
}
},
"GRch38": {
"90": {
"location": "19:7534004-7561764",
"ensembl_id": "ENSG00000032444"
}
}
},
"hgnc_date_symbol_changed": "2006-07-05"
},
"entity_type": "gene",
"entity_name": "PNPLA6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18313024",
"24355708",
"23733235"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 39, autosomal recessive, 612020"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RPC1",
"RPC155",
"hRPC155"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30074",
"gene_name": "RNA polymerase III subunit A",
"omim_gene": [
"614258"
],
"alias_name": null,
"gene_symbol": "POLR3A",
"hgnc_symbol": "POLR3A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:79734907-79789303",
"ensembl_id": "ENSG00000148606"
}
},
"GRch38": {
"90": {
"location": "10:77969251-78029545",
"ensembl_id": "ENSG00000148606"
}
}
},
"hgnc_date_symbol_changed": "2004-09-16"
},
"entity_type": "gene",
"entity_name": "POLR3A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25655951",
"21855841",
"28459997"
],
"evidence": [
"Yorkshire and North East GLH",
"Expert Review Green",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694",
"Autosomal Recessive Ataxia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RAB3-GAP150",
"KIAA0839",
"DKFZP434D245",
"SPG69"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17168",
"gene_name": "RAB3 GTPase activating non-catalytic protein subunit 2",
"omim_gene": [
"609275"
],
"alias_name": null,
"gene_symbol": "RAB3GAP2",
"hgnc_symbol": "RAB3GAP2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:220321635-220445796",
"ensembl_id": "ENSG00000118873"
}
},
"GRch38": {
"90": {
"location": "1:220148293-220272454",
"ensembl_id": "ENSG00000118873"
}
}
},
"hgnc_date_symbol_changed": "2005-08-23"
},
"entity_type": "gene",
"entity_name": "RAB3GAP2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24482476",
"32376645",
"32740904"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Yorkshire and North East GLH",
"Literature"
],
"phenotypes": [
"Martsolf syndrome 1, OMIM:212720",
"Warburg micro syndrome 2, OMIM:614225"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ13110",
"SPG31",
"Yip2a"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25786",
"gene_name": "receptor accessory protein 1",
"omim_gene": [
"609139"
],
"alias_name": [
"receptor expression enhancing protein 1"
],
"gene_symbol": "REEP1",
"hgnc_symbol": "REEP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:86441116-86565206",
"ensembl_id": "ENSG00000068615"
}
},
"GRch38": {
"90": {
"location": "2:86213993-86338083",
"ensembl_id": "ENSG00000068615"
}
}
},
"hgnc_date_symbol_changed": "2006-02-07"
},
"entity_type": "gene",
"entity_name": "REEP1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16826527",
"18321925"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 31, autosomal dominant, 610250"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SGC32445",
"SPG72",
"Yip2d"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17975",
"gene_name": "receptor accessory protein 2",
"omim_gene": [
"609347"
],
"alias_name": null,
"gene_symbol": "REEP2",
"hgnc_symbol": "REEP2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:137774706-137782658",
"ensembl_id": "ENSG00000132563"
}
},
"GRch38": {
"90": {
"location": "5:138439017-138446969",
"ensembl_id": "ENSG00000132563"
}
}
},
"hgnc_date_symbol_changed": "2006-02-07"
},
"entity_type": "gene",
"entity_name": "REEP2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24388663",
"24482476",
"28491902",
"33526816"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature",
"Other"
],
"phenotypes": [
"Spastic paraplegia 72, autosomal dominant,615625",
"Spastic paraplegia 72, autosomal recessive, 615625"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ11712"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25671",
"gene_name": "ribonuclease H2 subunit B",
"omim_gene": [
"610326"
],
"alias_name": null,
"gene_symbol": "RNASEH2B",
"hgnc_symbol": "RNASEH2B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:51483814-51544592",
"ensembl_id": "ENSG00000136104"
}
},
"GRch38": {
"90": {
"location": "13:50909678-50973745",
"ensembl_id": "ENSG00000136104"
}
}
},
"hgnc_date_symbol_changed": "2006-08-17"
},
"entity_type": "gene",
"entity_name": "RNASEH2B",
"confidence_level": "3",
"penetrance": "unknown",
"mode_of_pathogenicity": "Other",
"publications": [
"30223285",
"25243380",
"29691679",
"28762473",
"29239743"
],
"evidence": [
"Expert Review Green",
"Other"
],
"phenotypes": [
"Aicardi-Goutieres syndrome 2, OMIM:61018"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZP564A022",
"ADSA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25358",
"gene_name": "ring finger protein 170",
"omim_gene": [
"614649"
],
"alias_name": null,
"gene_symbol": "RNF170",
"hgnc_symbol": "RNF170",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:42704780-42752433",
"ensembl_id": "ENSG00000120925"
}
},
"GRch38": {
"90": {
"location": "8:42849637-42897290",
"ensembl_id": "ENSG00000120925"
}
}
},
"hgnc_date_symbol_changed": "2005-01-26"
},
"entity_type": "gene",
"entity_name": "RNF170",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"31636353",
"33165979",
"35041108"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Spastic paraplegia 85, autosomal recessive, OMIM:619686"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"U7.1"
],
"biotype": "snRNA",
"hgnc_id": "HGNC:34033",
"gene_name": "RNA, U7 small nuclear 1",
"omim_gene": null,
"alias_name": [
"RNA, small nuclear U7.1"
],
"gene_symbol": "RNU7-1",
"hgnc_symbol": "RNU7-1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:7052979-7053041",
"ensembl_id": "ENSG00000238923"
}
},
"GRch38": {
"90": {
"location": "12:6943816-6943878",
"ensembl_id": "ENSG00000238923"
}
}
},
"hgnc_date_symbol_changed": "2010-09-14"
},
"entity_type": "gene",
"entity_name": "RNU7-1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"33230297"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Type I interferonopathy",
"Aicardi-Goutières syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"NSP2",
"NSPL1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10468",
"gene_name": "reticulon 2",
"omim_gene": [
"603183"
],
"alias_name": [
"NSP-like protein 1",
"Neuroendocrine-specific protein-like 1"
],
"gene_symbol": "RTN2",
"hgnc_symbol": "RTN2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:45988547-46000319",
"ensembl_id": "ENSG00000125744"
}
},
"GRch38": {
"90": {
"location": "19:45485289-45497061",
"ensembl_id": "ENSG00000125744"
}
}
},
"hgnc_date_symbol_changed": "1997-07-01"
},
"entity_type": "gene",
"entity_name": "RTN2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22232211",
"24123792",
"28362824",
"38527963"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 12, autosomal dominant, OMIM:604805",
"distal hereditary motor neuropathy, MONDO:0018894",
"Lower limb spasticity, HP:0002061"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"Q2_24_MOI",
"Q2_24_NHS_review"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"ARSACS",
"KIAA0730",
"DKFZp686B15167",
"DNAJC29",
"SPAX6",
"PPP1R138"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10519",
"gene_name": "sacsin molecular chaperone",
"omim_gene": [
"604490"
],
"alias_name": [
"protein phosphatase 1, regulatory subunit 138"
],
"gene_symbol": "SACS",
"hgnc_symbol": "SACS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:23902965-24007841",
"ensembl_id": "ENSG00000151835"
}
},
"GRch38": {
"90": {
"location": "13:23328826-23411513",
"ensembl_id": "ENSG00000151835"
}
}
},
"hgnc_date_symbol_changed": "1999-11-19"
},
"entity_type": "gene",
"entity_name": "SACS",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10655055",
"20876471"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic ataxia, Charlevoix-Saguenay type, 270550"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ14917"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:21061",
"gene_name": "serine active site containing 1",
"omim_gene": [
"614725"
],
"alias_name": null,
"gene_symbol": "SERAC1",
"hgnc_symbol": "SERAC1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:158530536-158589312",
"ensembl_id": "ENSG00000122335"
}
},
"GRch38": {
"90": {
"location": "6:158109515-158168270",
"ensembl_id": "ENSG00000122335"
}
}
},
"hgnc_date_symbol_changed": "2003-05-12"
},
"entity_type": "gene",
"entity_name": "SERAC1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27604308",
"29205472",
"27186703",
"28482397",
"28778788",
"22683713",
"16527507"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Other"
],
"phenotypes": [
"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"XPCT",
"MCT8",
"MCT7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10923",
"gene_name": "solute carrier family 16 member 2",
"omim_gene": [
"300095"
],
"alias_name": null,
"gene_symbol": "SLC16A2",
"hgnc_symbol": "SLC16A2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:73641085-73753752",
"ensembl_id": "ENSG00000147100"
}
},
"GRch38": {
"90": {
"location": "X:74421461-74533917",
"ensembl_id": "ENSG00000147100"
}
}
},
"hgnc_date_symbol_changed": "1994-04-22"
},
"entity_type": "gene",
"entity_name": "SLC16A2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12871948",
"14661163",
"19194886",
"20713192",
"22805248",
"23419639",
"24170966",
"25755011",
"25900139",
"28742507",
"31410843"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Allan-Herndon-Dudley syndrome, OMIM:300523"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SATT",
"ASCT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10942",
"gene_name": "solute carrier family 1 member 4",
"omim_gene": [
"600229"
],
"alias_name": [
"alanine/serine/cysteine/threonine transporter"
],
"gene_symbol": "SLC1A4",
"hgnc_symbol": "SLC1A4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:65215611-65250999",
"ensembl_id": "ENSG00000115902"
}
},
"GRch38": {
"90": {
"location": "2:64988477-65023865",
"ensembl_id": "ENSG00000115902"
}
}
},
"hgnc_date_symbol_changed": "1993-12-16"
},
"entity_type": "gene",
"entity_name": "SLC1A4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26138499",
"25930971",
"26041762",
"27193218",
"29989513"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
"Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ORC1",
"D13S327"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10985",
"gene_name": "solute carrier family 25 member 15",
"omim_gene": [
"603861"
],
"alias_name": [
"ornithine transporter 1"
],
"gene_symbol": "SLC25A15",
"hgnc_symbol": "SLC25A15",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:41363548-41384247",
"ensembl_id": "ENSG00000102743"
}
},
"GRch38": {
"90": {
"location": "13:40789412-40810111",
"ensembl_id": "ENSG00000102743"
}
}
},
"hgnc_date_symbol_changed": "1999-06-28"
},
"entity_type": "gene",
"entity_name": "SLC25A15",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"11355015",
"16376511",
"18978333",
"22465082",
"28592010",
"33314525"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"DYT18",
"DYT9"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11005",
"gene_name": "solute carrier family 2 member 1",
"omim_gene": [
"138140"
],
"alias_name": null,
"gene_symbol": "SLC2A1",
"hgnc_symbol": "SLC2A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:43391052-43424530",
"ensembl_id": "ENSG00000117394"
}
},
"GRch38": {
"90": {
"location": "1:42925375-42959173",
"ensembl_id": "ENSG00000117394"
}
}
},
"hgnc_date_symbol_changed": "1994-11-18"
},
"entity_type": "gene",
"entity_name": "SLC2A1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21832227",
"18606970",
"11136715",
"27725288"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"spastic paraplegia",
"seizure",
"Dystonia 9, 601042",
"Developmental delay",
"paroxysmal choreoathetosis"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0610",
"TAHCCP1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18514",
"gene_name": "spartin",
"omim_gene": [
"607111"
],
"alias_name": [
"spartin"
],
"gene_symbol": "SPART",
"hgnc_symbol": "SPART",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:36875775-36944317",
"ensembl_id": "ENSG00000133104"
}
},
"GRch38": {
"90": {
"location": "13:36301638-36370180",
"ensembl_id": "ENSG00000133104"
}
}
},
"hgnc_date_symbol_changed": "2017-05-30"
},
"entity_type": "gene",
"entity_name": "SPART",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12134148",
"18413476",
"20301556",
"20437587",
"27112432",
"28679690"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert list",
"UKGTN"
],
"phenotypes": [
"Troyer syndrome, OMIM:275900",
"Spastic paraplegia 20"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FSP2",
"ADPSP",
"KIAA1083"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11233",
"gene_name": "spastin",
"omim_gene": [
"604277"
],
"alias_name": null,
"gene_symbol": "SPAST",
"hgnc_symbol": "SPAST",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:32288680-32382706",
"ensembl_id": "ENSG00000021574"
}
},
"GRch38": {
"90": {
"location": "2:32063611-32157637",
"ensembl_id": "ENSG00000021574"
}
}
},
"hgnc_date_symbol_changed": "2005-03-17"
},
"entity_type": "gene",
"entity_name": "SPAST",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Hazan et al (1999)",
"10610178",
"10699187",
"11039577",
"10980739",
"15210521",
"16832076"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Eligibility statement prior genetic testing",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"UKGTN"
],
"phenotypes": [
"Spastic paraplegia 4, autosomal dominant, OMIM:182601",
"hereditary spastic paraplegia 4, MONDO:0008438"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC5347",
"FLJ12286"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28762",
"gene_name": "spermatogenesis associated 5 like 1",
"omim_gene": null,
"alias_name": null,
"gene_symbol": "SPATA5L1",
"hgnc_symbol": "SPATA5L1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:45694529-45713617",
"ensembl_id": "ENSG00000171763"
}
},
"GRch38": {
"90": {
"location": "15:45402331-45421419",
"ensembl_id": "ENSG00000171763"
}
}
},
"hgnc_date_symbol_changed": "2004-03-16"
},
"entity_type": "gene",
"entity_name": "SPATA5L1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"34626583"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked",
"new-gene-name"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ21439"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11226",
"gene_name": "SPG11, spatacsin vesicle trafficking associated",
"omim_gene": [
"610844"
],
"alias_name": [
"spatacsin"
],
"gene_symbol": "SPG11",
"hgnc_symbol": "SPG11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:44854894-44955876",
"ensembl_id": "ENSG00000104133"
}
},
"GRch38": {
"90": {
"location": "15:44562696-44663678",
"ensembl_id": "ENSG00000104133"
}
}
},
"hgnc_date_symbol_changed": "1999-10-08"
},
"entity_type": "gene",
"entity_name": "SPG11",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16699786",
"17322883"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 11, autosomal recessive, 604360"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ACP33",
"GL010",
"BM-019",
"MAST"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20373",
"gene_name": "SPG21, maspardin",
"omim_gene": [
"608181"
],
"alias_name": null,
"gene_symbol": "SPG21",
"hgnc_symbol": "SPG21",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:65255362-65282648",
"ensembl_id": "ENSG00000090487"
}
},
"GRch38": {
"90": {
"location": "15:64963021-64990310",
"ensembl_id": "ENSG00000090487"
}
}
},
"hgnc_date_symbol_changed": "2004-04-30"
},
"entity_type": "gene",
"entity_name": "SPG21",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"14564668",
"28752238",
"24451228"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"UKGTN"
],
"phenotypes": [
"Spastic Paraplegia, Recessive",
"Mast syndrome, 248900"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CAR",
"SPG5C"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11237",
"gene_name": "SPG7, paraplegin matrix AAA peptidase subunit",
"omim_gene": [
"602783"
],
"alias_name": [
"paraplegin"
],
"gene_symbol": "SPG7",
"hgnc_symbol": "SPG7",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:89557325-89624176",
"ensembl_id": "ENSG00000197912"
}
},
"GRch38": {
"90": {
"location": "16:89490917-89557768",
"ensembl_id": "ENSG00000197912"
}
}
},
"hgnc_date_symbol_changed": "1998-06-25"
},
"entity_type": "gene",
"entity_name": "SPG7",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"9635427",
"16534102",
"17646629",
"18200586",
"20186691",
"22571692"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 7, autosomal recessive, OMIM:607259",
"hereditary spastic paraplegia 7, MONDO:0011803"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11273",
"gene_name": "spectrin alpha, non-erythrocytic 1",
"omim_gene": [
"182810"
],
"alias_name": [
"alpha-fodrin"
],
"gene_symbol": "SPTAN1",
"hgnc_symbol": "SPTAN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:131314866-131395941",
"ensembl_id": "ENSG00000197694"
}
},
"GRch38": {
"90": {
"location": "9:128552558-128633662",
"ensembl_id": "ENSG00000197694"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "SPTAN1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"20493457",
"22656320",
"35150594"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Developmental and epileptic encephalopathy 5, OMIM:613477",
"developmental and epileptic encephalopathy, 5, MONDO:0013277"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ22559",
"bA541N10.2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26200",
"gene_name": "STN1, CST complex subunit",
"omim_gene": [
"613128"
],
"alias_name": null,
"gene_symbol": "STN1",
"hgnc_symbol": "STN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:105642300-105677963",
"ensembl_id": "ENSG00000107960"
}
},
"GRch38": {
"90": {
"location": "10:103882542-103918205",
"ensembl_id": "ENSG00000107960"
}
}
},
"hgnc_date_symbol_changed": "2016-10-04"
},
"entity_type": "gene",
"entity_name": "STN1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"27432940",
"32627942"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ32821",
"TAF(II)43"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17300",
"gene_name": "TATA-box binding protein associated factor 8",
"omim_gene": [
"609514"
],
"alias_name": null,
"gene_symbol": "TAF8",
"hgnc_symbol": "TAF8",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:42018251-42055199",
"ensembl_id": "ENSG00000137413"
}
},
"GRch38": {
"90": {
"location": "6:42050513-42087461",
"ensembl_id": "ENSG00000137413"
}
}
},
"hgnc_date_symbol_changed": "2007-07-30"
},
"entity_type": "gene",
"entity_name": "TAF8",
"confidence_level": "3",
"penetrance": "unknown",
"mode_of_pathogenicity": null,
"publications": [
"29648665",
"35759269"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19957",
"gene_name": "tectonin beta-propeller repeat containing 2",
"omim_gene": [
"615000"
],
"alias_name": null,
"gene_symbol": "TECPR2",
"hgnc_symbol": "TECPR2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:102829300-102968818",
"ensembl_id": "ENSG00000196663"
}
},
"GRch38": {
"90": {
"location": "14:102362963-102502481",
"ensembl_id": "ENSG00000196663"
}
}
},
"hgnc_date_symbol_changed": "2009-02-27"
},
"entity_type": "gene",
"entity_name": "TECPR2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23176824",
"26542466",
"33847017"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TF6",
"FLJ36137",
"SPG57"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11758",
"gene_name": "TRK-fused gene",
"omim_gene": [
"602498"
],
"alias_name": null,
"gene_symbol": "TFG",
"hgnc_symbol": "TFG",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:100428205-100467810",
"ensembl_id": "ENSG00000114354"
}
},
"GRch38": {
"90": {
"location": "3:100709331-100748966",
"ensembl_id": "ENSG00000114354"
}
}
},
"hgnc_date_symbol_changed": "1999-06-14"
},
"entity_type": "gene",
"entity_name": "TFG",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23479643",
"27492651",
"27601211",
"28124177",
"29971521",
"30467354",
"33767317"
],
"evidence": [
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert list"
],
"phenotypes": [
"Spastic paraplegia 57, autosomal recessive, OMIM:615658"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZp434P0111",
"CSC1",
"hsCSC1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23787",
"gene_name": "transmembrane protein 63C",
"omim_gene": null,
"alias_name": [
"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"
],
"gene_symbol": "TMEM63C",
"hgnc_symbol": "TMEM63C",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:77582911-77725838",
"ensembl_id": "ENSG00000165548"
}
},
"GRch38": {
"90": {
"location": "14:77116568-77259495",
"ensembl_id": "ENSG00000165548"
}
}
},
"hgnc_date_symbol_changed": "2005-07-25"
},
"entity_type": "gene",
"entity_name": "TMEM63C",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"35718349"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"hereditary spastic paraplegia, MONDO:0019064"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"beta-5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20774",
"gene_name": "tubulin beta 4A class IVa",
"omim_gene": [
"602662"
],
"alias_name": [
"class IVa beta-tubulin"
],
"gene_symbol": "TUBB4A",
"hgnc_symbol": "TUBB4A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:6494330-6502859",
"ensembl_id": "ENSG00000104833"
}
},
"GRch38": {
"90": {
"location": "19:6494319-6502848",
"ensembl_id": "ENSG00000104833"
}
}
},
"hgnc_date_symbol_changed": "2011-10-10"
},
"entity_type": "gene",
"entity_name": "TUBB4A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
"Leukodystrophy, hypomyelinating, 6 612438",
"ataxia",
"Dystonia 4, torsion, autosomal dominant 128101"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12461",
"gene_name": "ubiquitin associated protein 1",
"omim_gene": [
"609787"
],
"alias_name": null,
"gene_symbol": "UBAP1",
"hgnc_symbol": "UBAP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:34179003-34252521",
"ensembl_id": "ENSG00000165006"
}
},
"GRch38": {
"90": {
"location": "9:34179005-34252523",
"ensembl_id": "ENSG00000165006"
}
}
},
"hgnc_date_symbol_changed": "2002-08-30"
},
"entity_type": "gene",
"entity_name": "UBAP1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"30929741"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Hereditary spastic paraplegia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PGP9.5",
"Uch-L1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12513",
"gene_name": "ubiquitin C-terminal hydrolase L1",
"omim_gene": [
"191342"
],
"alias_name": [
"ubiquitin thiolesterase"
],
"gene_symbol": "UCHL1",
"hgnc_symbol": "UCHL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:41258430-41270472",
"ensembl_id": "ENSG00000154277"
}
},
"GRch38": {
"90": {
"location": "4:41256413-41268455",
"ensembl_id": "ENSG00000154277"
}
}
},
"hgnc_date_symbol_changed": "1991-07-15"
},
"entity_type": "gene",
"entity_name": "UCHL1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23359680",
"28007905",
"29735986",
"32656641",
"11555633",
"33159930",
"35986737"
],
"evidence": [
"Yorkshire and North East GLH",
"Expert Review Green",
"NHS GMS",
"London North GLH"
],
"phenotypes": [
"Spastic paraplegia 79B, autosomal recessive, OMIM:615491",
"early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209",
"Spastic paraplegia 79A, autosomal dominant, OMIM:620221"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q3_23_MOI"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"WIPI3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25072",
"gene_name": "WD repeat domain 45B",
"omim_gene": [
"609226"
],
"alias_name": null,
"gene_symbol": "WDR45B",
"hgnc_symbol": "WDR45B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:80572438-80606429",
"ensembl_id": "ENSG00000141580"
}
},
"GRch38": {
"90": {
"location": "17:82614562-82648553",
"ensembl_id": "ENSG00000141580"
}
}
},
"hgnc_date_symbol_changed": "2013-01-11"
},
"entity_type": "gene",
"entity_name": "WDR45B",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21937992",
"28503735"
],
"evidence": [
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature",
"Expert Review Green"
],
"phenotypes": [
"Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0321"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20761",
"gene_name": "zinc finger FYVE-type containing 26",
"omim_gene": [
"612012"
],
"alias_name": [
"spastizin",
"FYVE-CENT"
],
"gene_symbol": "ZFYVE26",
"hgnc_symbol": "ZFYVE26",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:68194091-68283307",
"ensembl_id": "ENSG00000072121"
}
},
"GRch38": {
"90": {
"location": "14:67727374-67816590",
"ensembl_id": "ENSG00000072121"
}
}
},
"hgnc_date_symbol_changed": "2003-04-01"
},
"entity_type": "gene",
"entity_name": "ZFYVE26",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18394578"
],
"evidence": [
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Green",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 15, autosomal recessive, 270700"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC2404"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23339",
"gene_name": "acyl-CoA binding domain containing 6",
"omim_gene": [
"616352"
],
"alias_name": null,
"gene_symbol": "ACBD6",
"hgnc_symbol": "ACBD6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:180238788-180245359",
"ensembl_id": "ENSG00000230124"
}
},
"GRch38": {
"90": {
"location": "1:180269653-180502954",
"ensembl_id": "ENSG00000230124"
}
}
},
"hgnc_date_symbol_changed": "2003-11-11"
},
"entity_type": "gene",
"entity_name": "ACBD6",
"confidence_level": "2",
"penetrance": "Complete",
"mode_of_pathogenicity": null,
"publications": [
"21937992",
"32108178",
"36457943",
"37951597"
],
"evidence": [
"Expert Review Amber"
],
"phenotypes": [
"Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q1_24_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"CD246"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:427",
"gene_name": "ALK receptor tyrosine kinase",
"omim_gene": [
"105590"
],
"alias_name": null,
"gene_symbol": "ALK",
"hgnc_symbol": "ALK",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:29415640-30144432",
"ensembl_id": "ENSG00000171094"
}
},
"GRch38": {
"90": {
"location": "2:29192774-29921566",
"ensembl_id": "ENSG00000171094"
}
}
},
"hgnc_date_symbol_changed": "1993-08-24"
},
"entity_type": "gene",
"entity_name": "ALK",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"32989326"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Spastic-dystonic diplegia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RNF45",
"gp78"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:463",
"gene_name": "autocrine motility factor receptor",
"omim_gene": [
"603243"
],
"alias_name": null,
"gene_symbol": "AMFR",
"hgnc_symbol": "AMFR",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:56395364-56459450",
"ensembl_id": "ENSG00000159461"
}
},
"GRch38": {
"90": {
"location": "16:56361452-56425538",
"ensembl_id": "ENSG00000159461"
}
}
},
"hgnc_date_symbol_changed": "1994-01-10"
},
"entity_type": "gene",
"entity_name": "AMFR",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"37119330"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Spastic paraplegia 89, autosomal recessive, OMIM:620379"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q3_23_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"SPG63"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:469",
"gene_name": "adenosine monophosphate deaminase 2",
"omim_gene": [
"102771"
],
"alias_name": [
"AMPD isoform L"
],
"gene_symbol": "AMPD2",
"hgnc_symbol": "AMPD2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:110158726-110174673",
"ensembl_id": "ENSG00000116337"
}
},
"GRch38": {
"90": {
"location": "1:109616104-109632051",
"ensembl_id": "ENSG00000116337"
}
}
},
"hgnc_date_symbol_changed": "1990-03-06"
},
"entity_type": "gene",
"entity_name": "AMPD2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Novarino et al. (2014)",
"24482476",
"27159321"
],
"evidence": [
"Yorkshire and North East GLH",
"Expert Review Amber",
"NHS GMS",
"London North GLH",
"Expert list"
],
"phenotypes": [
"?Spastic paraplegia 63, 615686, AR",
"Pontocerebellar hypoplasia, type 9, 615809, AR"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ10709"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25567",
"gene_name": "ATPase family, AAA domain containing 3A",
"omim_gene": [
"612316"
],
"alias_name": null,
"gene_symbol": "ATAD3A",
"hgnc_symbol": "ATAD3A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:1447531-1470067",
"ensembl_id": "ENSG00000197785"
}
},
"GRch38": {
"90": {
"location": "1:1512151-1534687",
"ensembl_id": "ENSG00000197785"
}
}
},
"hgnc_date_symbol_changed": "2007-02-08"
},
"entity_type": "gene",
"entity_name": "ATAD3A",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"28158749",
"27640307",
"33845882",
"34387651"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Harel-Yoon syndrome, OMIM:617183",
"Spastic paraplegia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"BLOS1",
"BORCS1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4200",
"gene_name": "biogenesis of lysosomal organelles complex 1 subunit 1",
"omim_gene": [
"601444"
],
"alias_name": [
"GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1",
"BLOC-1 Subunit 1",
"Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"
],
"gene_symbol": "BLOC1S1",
"hgnc_symbol": "BLOC1S1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:56109820-56113871",
"ensembl_id": "ENSG00000135441"
}
},
"GRch38": {
"90": {
"location": "12:55716037-55720087",
"ensembl_id": "ENSG00000135441"
}
}
},
"hgnc_date_symbol_changed": "2004-05-26"
},
"entity_type": "gene",
"entity_name": "BLOC1S1",
"confidence_level": "2",
"penetrance": "unknown",
"mode_of_pathogenicity": null,
"publications": [
"33875846"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"severe intellectual disability",
"severe global developmental delay",
"epilepsy"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ23518"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26282",
"gene_name": "coiled-coil domain containing 82",
"omim_gene": null,
"alias_name": null,
"gene_symbol": "CCDC82",
"hgnc_symbol": "CCDC82",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:96085933-96123087",
"ensembl_id": "ENSG00000149231"
}
},
"GRch38": {
"90": {
"location": "11:96352769-96389923",
"ensembl_id": "ENSG00000149231"
}
}
},
"hgnc_date_symbol_changed": "2006-03-09"
},
"entity_type": "gene",
"entity_name": "CCDC82",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"35118659",
"35373332"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"neurodevelopmental disorder, MONDO:0700092",
"hereditary spastic paraplegia, MONDO:0019064"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"Sid470p",
"CHP",
"SLC9A1BP",
"p22",
"p24"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17433",
"gene_name": "calcineurin like EF-hand protein 1",
"omim_gene": [
"606988"
],
"alias_name": [
"calcineurin homologous protein"
],
"gene_symbol": "CHP1",
"hgnc_symbol": "CHP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:41523037-41574043",
"ensembl_id": "ENSG00000187446"
}
},
"GRch38": {
"90": {
"location": "15:41230839-41281890",
"ensembl_id": "ENSG00000187446"
}
}
},
"hgnc_date_symbol_changed": "2012-05-16"
},
"entity_type": "gene",
"entity_name": "CHP1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"23904602",
"29379881",
"32787936"
],
"evidence": [
"Literature",
"Expert Review Amber"
],
"phenotypes": [
"Spastic ataxia 9, autosomal recessive, OMIM:618438"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"watchlist"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"OSP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8514",
"gene_name": "claudin 11",
"omim_gene": [
"601326"
],
"alias_name": null,
"gene_symbol": "CLDN11",
"hgnc_symbol": "CLDN11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:170136653-170578169",
"ensembl_id": "ENSG00000013297"
}
},
"GRch38": {
"90": {
"location": "3:170418865-170860380",
"ensembl_id": "ENSG00000013297"
}
}
},
"hgnc_date_symbol_changed": "1996-09-13"
},
"entity_type": "gene",
"entity_name": "CLDN11",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"33313762"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Leukodystrophy, hypomyelinating, 22, OMIM:619328"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"Q4_23_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"KIAA0472",
"DustyPK",
"RIP5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29043",
"gene_name": "dual serine/threonine and tyrosine protein kinase",
"omim_gene": [
"612666"
],
"alias_name": null,
"gene_symbol": "DSTYK",
"hgnc_symbol": "DSTYK",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:205111632-205180727",
"ensembl_id": "ENSG00000133059"
}
},
"GRch38": {
"90": {
"location": "1:205142505-205211566",
"ensembl_id": "ENSG00000133059"
}
}
},
"hgnc_date_symbol_changed": "2008-12-18"
},
"entity_type": "gene",
"entity_name": "DSTYK",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28157540"
],
"evidence": [
"Expert Review Amber",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Other"
],
"phenotypes": [
"Spastic paraplegia 23, 270750",
"ongenital anomalies of kidney and urinary tract 1, 610805, AD",
"Spastic paraplegia 23, 270750, AR"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"hRrp40p",
"Rrp40p",
"RRP40",
"CGI-102",
"p10",
"hRrp-40"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17944",
"gene_name": "exosome component 3",
"omim_gene": [
"606489"
],
"alias_name": [
"exosome component Rrp40",
"CGI-102 protein"
],
"gene_symbol": "EXOSC3",
"hgnc_symbol": "EXOSC3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:37766975-37801434",
"ensembl_id": "ENSG00000107371"
}
},
"GRch38": {
"90": {
"location": "9:37766978-37801437",
"ensembl_id": "ENSG00000107371"
}
}
},
"hgnc_date_symbol_changed": "2004-03-26"
},
"entity_type": "gene",
"entity_name": "EXOSC3",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"25149867",
"23975261"
],
"evidence": [
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Complicated hereditary spastic paraplegia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4092",
"gene_name": "glutamate decarboxylase 1",
"omim_gene": [
"605363"
],
"alias_name": null,
"gene_symbol": "GAD1",
"hgnc_symbol": "GAD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:171669723-171717661",
"ensembl_id": "ENSG00000128683"
}
},
"GRch38": {
"90": {
"location": "2:170813213-170861151",
"ensembl_id": "ENSG00000128683"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "GAD1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Yorkshire and North East GLH",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Cerebralpalsy, spasticquadriplegic, 1, 603513"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CX47",
"CX46.6",
"SPG44"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17494",
"gene_name": "gap junction protein gamma 2",
"omim_gene": [
"608803"
],
"alias_name": [
"connexin 47"
],
"gene_symbol": "GJC2",
"hgnc_symbol": "GJC2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:228337553-228347527",
"ensembl_id": "ENSG00000198835"
}
},
"GRch38": {
"90": {
"location": "1:228149852-228159826",
"ensembl_id": "ENSG00000198835"
}
}
},
"hgnc_date_symbol_changed": "2007-11-06"
},
"entity_type": "gene",
"entity_name": "GJC2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Orthmann-Murphy et al. (2009)",
"19056803"
],
"evidence": [
"Expert Review Amber",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 44, autosomal recessive",
"Leukodystrophy, hypomyelinating,2, 608804, AR",
"Spastic paraplegia 44, autosomal recessive, 613206, AR",
"Lymphatic malformation 3, 613480, AD"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ34154",
"KIAA0614"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26611",
"gene_name": "HECT domain E3 ubiquitin protein ligase 4",
"omim_gene": null,
"alias_name": null,
"gene_symbol": "HECTD4",
"hgnc_symbol": "HECTD4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:112597992-112819896",
"ensembl_id": "ENSG00000173064"
}
},
"GRch38": {
"90": {
"location": "12:112160188-112382439",
"ensembl_id": "ENSG00000173064"
}
}
},
"hgnc_date_symbol_changed": "2012-08-14"
},
"entity_type": "gene",
"entity_name": "HECTD4",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"36401616"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Literature"
],
"phenotypes": [
"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked",
"Q4_23_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4982",
"gene_name": "hydroxymethylbilane synthase",
"omim_gene": [
"609806"
],
"alias_name": null,
"gene_symbol": "HMBS",
"hgnc_symbol": "HMBS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:118955576-118964259",
"ensembl_id": "ENSG00000256269"
}
},
"GRch38": {
"90": {
"location": "11:119084866-119093549",
"ensembl_id": "ENSG00000256269"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "HMBS",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"27558376",
"34089223"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Leukoencephalopathy, HP:0002352",
"hereditary spastic paraplegia, MONDO:0019064"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q1_24_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ12734"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:27302",
"gene_name": "IBA57 homolog, iron-sulfur cluster assembly",
"omim_gene": [
"615316"
],
"alias_name": [
"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"
],
"gene_symbol": "IBA57",
"hgnc_symbol": "IBA57",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:228353516-228369958",
"ensembl_id": "ENSG00000181873"
}
},
"GRch38": {
"90": {
"location": "1:228165815-228182257",
"ensembl_id": "ENSG00000181873"
}
}
},
"hgnc_date_symbol_changed": "2011-03-11"
},
"entity_type": "gene",
"entity_name": "IBA57",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30258207",
"25609768"
],
"evidence": [
"Expert Review Amber",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"?Spastic paraplegia 74, autosomal recessive, OMIM:616451"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6556",
"gene_name": "leucine zipper and EF-hand containing transmembrane protein 1",
"omim_gene": [
"604407"
],
"alias_name": [
"Mdm38 homolog (yeast)"
],
"gene_symbol": "LETM1",
"hgnc_symbol": "LETM1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:1813206-1857974",
"ensembl_id": "ENSG00000168924"
}
},
"GRch38": {
"90": {
"location": "4:1811479-1856247",
"ensembl_id": "ENSG00000168924"
}
}
},
"hgnc_date_symbol_changed": "1998-05-13"
},
"entity_type": "gene",
"entity_name": "LETM1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"36055214",
"33815143"
],
"evidence": [
"Expert Review Amber",
"Expert Review"
],
"phenotypes": [
"Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q3_23_MOI",
"Q3_23_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"CHS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1968",
"gene_name": "lysosomal trafficking regulator",
"omim_gene": [
"606897"
],
"alias_name": null,
"gene_symbol": "LYST",
"hgnc_symbol": "LYST",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:235824341-236046940",
"ensembl_id": "ENSG00000143669"
}
},
"GRch38": {
"90": {
"location": "1:235661041-235883640",
"ensembl_id": "ENSG00000143669"
}
}
},
"hgnc_date_symbol_changed": "2004-12-10"
},
"entity_type": "gene",
"entity_name": "LYST",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24521565",
"26307451",
"25519961",
"25519960"
],
"evidence": [
"Yorkshire and North East GLH",
"Expert Review Amber",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"spastic paraplegia",
"Chediak-Higashi syndrome, 214500"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"mtMetRS",
"SPAX3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25133",
"gene_name": "methionyl-tRNA synthetase 2, mitochondrial",
"omim_gene": [
"609728"
],
"alias_name": [
"methionine tRNA ligase 2, mitochondrial"
],
"gene_symbol": "MARS2",
"hgnc_symbol": "MARS2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:198570087-198573113",
"ensembl_id": "ENSG00000247626"
}
},
"GRch38": {
"90": {
"location": "2:197705369-197708387",
"ensembl_id": "ENSG00000247626"
}
}
},
"hgnc_date_symbol_changed": "2004-12-02"
},
"entity_type": "gene",
"entity_name": "MARS2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22448145"
],
"evidence": [
"Yorkshire and North East GLH",
"Expert Review Amber",
"NHS GMS",
"London North GLH",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic ataxia 3, autosomal recessive, 611390"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ10486",
"mtPAP",
"SPAX4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25532",
"gene_name": "mitochondrial poly(A) polymerase",
"omim_gene": [
"613669"
],
"alias_name": [
"TUTase1"
],
"gene_symbol": "MTPAP",
"hgnc_symbol": "MTPAP",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:30598730-30663377",
"ensembl_id": "ENSG00000107951"
}
},
"GRch38": {
"90": {
"location": "10:30309801-30374448",
"ensembl_id": "ENSG00000107951"
}
}
},
"hgnc_date_symbol_changed": "2009-01-12"
},
"entity_type": "gene",
"entity_name": "MTPAP",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20970105",
"27391121"
],
"evidence": [
"Yorkshire and North East GLH",
"Expert Review Amber",
"NHS GMS",
"London North GLH",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Ataxia, spastic, 4",
"Spastic ataxia 4, autosomal recessive",
"?Spastic ataxia 4, autosomal recessive, 613672"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0343",
"Bravo"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7994",
"gene_name": "neuronal cell adhesion molecule",
"omim_gene": [
"601581"
],
"alias_name": [
"NgCAM-related cell adhesion molecule"
],
"gene_symbol": "NRCAM",
"hgnc_symbol": "NRCAM",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:107788068-108097161",
"ensembl_id": "ENSG00000091129"
}
},
"GRch38": {
"90": {
"location": "7:108147623-108456717",
"ensembl_id": "ENSG00000091129"
}
}
},
"hgnc_date_symbol_changed": "1996-06-19"
},
"entity_type": "gene",
"entity_name": "NRCAM",
"confidence_level": "2",
"penetrance": "Complete",
"mode_of_pathogenicity": null,
"publications": [
"35108495"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"watchlist"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"PI4K-ALPHA",
"pi4K230"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8983",
"gene_name": "phosphatidylinositol 4-kinase alpha",
"omim_gene": [
"600286"
],
"alias_name": null,
"gene_symbol": "PI4KA",
"hgnc_symbol": "PI4KA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:21061979-21213705",
"ensembl_id": "ENSG00000241973"
}
},
"GRch38": {
"90": {
"location": "22:20707691-20859417",
"ensembl_id": "ENSG00000241973"
}
}
},
"hgnc_date_symbol_changed": "2007-08-02"
},
"entity_type": "gene",
"entity_name": "PI4KA",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"25855803",
"34415322",
"34415310"
],
"evidence": [
"Expert Review Amber"
],
"phenotypes": [
"Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"RPC11"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14121",
"gene_name": "RNA polymerase III subunit K",
"omim_gene": [
"606007"
],
"alias_name": null,
"gene_symbol": "POLR3K",
"hgnc_symbol": "POLR3K",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:96407-103628",
"ensembl_id": "ENSG00000161980"
}
},
"GRch38": {
"90": {
"location": "16:46407-53628",
"ensembl_id": "ENSG00000161980"
}
}
},
"hgnc_date_symbol_changed": "2000-12-21"
},
"entity_type": "gene",
"entity_name": "POLR3K",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"30584594",
"33659930"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Leukodystrophy, hypomyelinating, 21, OMIM:619310"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"watchlist",
"founder-effect"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"L2",
"hSGT2",
"hSgt2p",
"SGT2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9249",
"gene_name": "PPFIA binding protein 1",
"omim_gene": [
"603141"
],
"alias_name": [
"liprin beta 1"
],
"gene_symbol": "PPFIBP1",
"hgnc_symbol": "PPFIBP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:27676364-27848497",
"ensembl_id": "ENSG00000110841"
}
},
"GRch38": {
"90": {
"location": "12:27523431-27695564",
"ensembl_id": "ENSG00000110841"
}
}
},
"hgnc_date_symbol_changed": "1998-10-23"
},
"entity_type": "gene",
"entity_name": "PPFIBP1",
"confidence_level": "2",
"penetrance": "Complete",
"mode_of_pathogenicity": null,
"publications": [
"35830857",
"30214071"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q4_23_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ20152",
"JK1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25964",
"gene_name": "reticulophagy regulator 1",
"omim_gene": [
"613114"
],
"alias_name": null,
"gene_symbol": "RETREG1",
"hgnc_symbol": "RETREG1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:16473147-16617167",
"ensembl_id": "ENSG00000154153"
}
},
"GRch38": {
"90": {
"location": "5:16473038-16617058",
"ensembl_id": "ENSG00000154153"
}
}
},
"hgnc_date_symbol_changed": "2017-03-16"
},
"entity_type": "gene",
"entity_name": "RETREG1",
"confidence_level": "2",
"penetrance": "unknown",
"mode_of_pathogenicity": null,
"publications": [
"24327336",
"30643655"
],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"phenotypes": [
"Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q4_23_promote_green",
"Q4_23_NHS_review"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"RhoB",
"RHOH6",
"MST081"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:668",
"gene_name": "ras homolog family member B",
"omim_gene": [
"165370"
],
"alias_name": [
"oncogene RHO H6"
],
"gene_symbol": "RHOB",
"hgnc_symbol": "RHOB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:20646835-20649200",
"ensembl_id": "ENSG00000143878"
}
},
"GRch38": {
"90": {
"location": "2:20447074-20449445",
"ensembl_id": "ENSG00000143878"
}
}
},
"hgnc_date_symbol_changed": "2004-03-24"
},
"entity_type": "gene",
"entity_name": "RHOB",
"confidence_level": "2",
"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",
"publications": [
"32989326"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Cerebral palsy"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ20450",
"mtSerRS",
"SerRSmt",
"SARS",
"SERS",
"SYS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17697",
"gene_name": "seryl-tRNA synthetase 2, mitochondrial",
"omim_gene": [
"612804"
],
"alias_name": [
"serine tRNA ligase 2, mitochondrial"
],
"gene_symbol": "SARS2",
"hgnc_symbol": "SARS2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:39405906-39440495",
"ensembl_id": "ENSG00000104835"
}
},
"GRch38": {
"90": {
"location": "19:38915266-38930896",
"ensembl_id": "ENSG00000104835"
}
}
},
"hgnc_date_symbol_changed": "2002-10-09"
},
"entity_type": "gene",
"entity_name": "SARS2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"21255763",
"24034276",
"27279129"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845",
"Progressive Spastic Paresis"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25198",
"gene_name": "solute carrier family 25 member 46",
"omim_gene": [
"610826"
],
"alias_name": null,
"gene_symbol": "SLC25A46",
"hgnc_symbol": "SLC25A46",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:110073837-110100857",
"ensembl_id": "ENSG00000164209"
}
},
"GRch38": {
"90": {
"location": "5:110738136-110765161",
"ensembl_id": "ENSG00000164209"
}
}
},
"hgnc_date_symbol_changed": "2006-09-21"
},
"entity_type": "gene",
"entity_name": "SLC25A46",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28369803",
"26168012"
],
"evidence": [
"Expert Review Amber",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"Neuropathy, hereditary motor and sensory, type VIB, 616505"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ssSPTa"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20361",
"gene_name": "serine palmitoyltransferase small subunit A",
"omim_gene": [
"613540"
],
"alias_name": [
"small subunit of serine palmitoyltransferase A"
],
"gene_symbol": "SPTSSA",
"hgnc_symbol": "SPTSSA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:34901995-34931562",
"ensembl_id": "ENSG00000165389"
}
},
"GRch38": {
"90": {
"location": "14:34432789-34462356",
"ensembl_id": "ENSG00000165389"
}
}
},
"hgnc_date_symbol_changed": "2011-07-26"
},
"entity_type": "gene",
"entity_name": "SPTSSA",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"36718090"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Spastic paraplegia 90A, autosomal dominant, OMIM:620416",
"?Spastic paraplegia 90B, autosomal recessive, OMIM:620417"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"VAMP-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12642",
"gene_name": "vesicle associated membrane protein 1",
"omim_gene": [
"185880"
],
"alias_name": null,
"gene_symbol": "VAMP1",
"hgnc_symbol": "VAMP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:6571403-6580153",
"ensembl_id": "ENSG00000139190"
}
},
"GRch38": {
"90": {
"location": "12:6462237-6470987",
"ensembl_id": "ENSG00000139190"
}
}
},
"hgnc_date_symbol_changed": "1990-03-14"
},
"entity_type": "gene",
"entity_name": "VAMP1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22958904",
"27957547"
],
"evidence": [
"Expert Review Amber",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic ataxia 1, autosomal dominant, 108600"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ32642",
"HCRP1",
"SPG53"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24928",
"gene_name": "VPS37A, ESCRT-I subunit",
"omim_gene": [
"609927"
],
"alias_name": [
"hepatocellular carcinoma related protein 1"
],
"gene_symbol": "VPS37A",
"hgnc_symbol": "VPS37A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:17104080-17159936",
"ensembl_id": "ENSG00000155975"
}
},
"GRch38": {
"90": {
"location": "8:17246571-17302427",
"ensembl_id": "ENSG00000155975"
}
}
},
"hgnc_date_symbol_changed": "2005-09-08"
},
"entity_type": "gene",
"entity_name": "VPS37A",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Zivony-Elboum et al. (2012)",
"22717650"
],
"evidence": [
"Expert Review Amber",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 53, 614898, AR"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1449",
"P80",
"SPG60"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30914",
"gene_name": "WD repeat domain 48",
"omim_gene": [
"612167"
],
"alias_name": null,
"gene_symbol": "WDR48",
"hgnc_symbol": "WDR48",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:39093489-39138155",
"ensembl_id": "ENSG00000114742"
}
},
"GRch38": {
"90": {
"location": "3:39051998-39096671",
"ensembl_id": "ENSG00000114742"
}
}
},
"hgnc_date_symbol_changed": "2005-01-10"
},
"entity_type": "gene",
"entity_name": "WDR48",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Novarino et al. (2014)",
"24482476"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Yorkshire and North East GLH",
"Expert list"
],
"phenotypes": [
"spastic paraplegia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ16069",
"SPG66"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:32521",
"gene_name": "arylsulfatase family member I",
"omim_gene": [
"610009"
],
"alias_name": null,
"gene_symbol": "ARSI",
"hgnc_symbol": "ARSI",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:149675906-149718870",
"ensembl_id": "ENSG00000183876"
}
},
"GRch38": {
"90": {
"location": "5:150296343-150339307",
"ensembl_id": "ENSG00000183876"
}
}
},
"hgnc_date_symbol_changed": "2006-02-09"
},
"entity_type": "gene",
"entity_name": "ARSI",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Novarino et al. (2014)",
"24482476"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review Red",
"Expert list"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0098"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1618",
"gene_name": "chaperonin containing TCP1 subunit 5",
"omim_gene": [
"610150"
],
"alias_name": null,
"gene_symbol": "CCT5",
"hgnc_symbol": "CCT5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:10250033-10266524",
"ensembl_id": "ENSG00000150753"
}
},
"GRch38": {
"90": {
"location": "5:10249921-10266412",
"ensembl_id": "ENSG00000150753"
}
}
},
"hgnc_date_symbol_changed": "1999-09-29"
},
"entity_type": "gene",
"entity_name": "CCT5",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16399879"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Red",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Sensory Neuropathy with Spastic Paraplegia",
"Neuropathy, hereditary sensory, with spastic paraplegia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PCTAIRE",
"PCTAIRE1",
"PCTGAIRE",
"FLJ16665"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8749",
"gene_name": "cyclin dependent kinase 16",
"omim_gene": [
"311550"
],
"alias_name": [
"serine/threonine-protein kinase"
],
"gene_symbol": "CDK16",
"hgnc_symbol": "CDK16",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:47077259-47089396",
"ensembl_id": "ENSG00000102225"
}
},
"GRch38": {
"90": {
"location": "X:47217860-47229997",
"ensembl_id": "ENSG00000102225"
}
}
},
"hgnc_date_symbol_changed": "2009-12-16"
},
"entity_type": "gene",
"entity_name": "CDK16",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25644381",
"26350204"
],
"evidence": [
"Expert Review Red",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Literature"
],
"phenotypes": [
"Intellectual disability and spastic paraplegia, x-linked"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NEDF",
"CGI-149"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29865",
"gene_name": "charged multivesicular body protein 3",
"omim_gene": [
"610052"
],
"alias_name": null,
"gene_symbol": "CHMP3",
"hgnc_symbol": "CHMP3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:86730554-86948245",
"ensembl_id": "ENSG00000115561"
}
},
"GRch38": {
"90": {
"location": "2:86503431-86563479",
"ensembl_id": "ENSG00000115561"
}
}
},
"hgnc_date_symbol_changed": "2011-09-21"
},
"entity_type": "gene",
"entity_name": "CHMP3",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"35710109"
],
"evidence": [
"Expert Review Red",
"Literature"
],
"phenotypes": [
"Complex spastic quadriplegia associated with developmental delay and seizures"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"FLJ12387"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20716",
"gene_name": "kinesin light chain 2",
"omim_gene": [
"611729"
],
"alias_name": null,
"gene_symbol": "KLC2",
"hgnc_symbol": "KLC2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:66024765-66035331",
"ensembl_id": "ENSG00000174996"
}
},
"GRch38": {
"90": {
"location": "11:66257294-66267860",
"ensembl_id": "ENSG00000174996"
}
}
},
"hgnc_date_symbol_changed": "2005-09-13"
},
"entity_type": "gene",
"entity_name": "KLC2",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"19344448"
],
"evidence": [
"Expert Review Red",
"Expert list"
],
"phenotypes": [
"Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"currently-ngs-unreportable"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"bA387M24.3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:21624",
"gene_name": "kinesin light chain 4",
"omim_gene": null,
"alias_name": null,
"gene_symbol": "KLC4",
"hgnc_symbol": "KLC4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:43008515-43042837",
"ensembl_id": "ENSG00000137171"
}
},
"GRch38": {
"90": {
"location": "6:43040777-43075099",
"ensembl_id": "ENSG00000137171"
}
}
},
"hgnc_date_symbol_changed": "2005-09-13"
},
"entity_type": "gene",
"entity_name": "KLC4",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26423925"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review Red",
"Literature"
],
"phenotypes": [
"spastic paraplegia",
"progressive complicated spastic paraplegia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MetRS",
"SPG70",
"CMT2U"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6898",
"gene_name": "methionyl-tRNA synthetase",
"omim_gene": [
"156560"
],
"alias_name": [
"methionine tRNA ligase 1, cytoplasmic"
],
"gene_symbol": "MARS",
"hgnc_symbol": "MARS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:57869228-57911352",
"ensembl_id": "ENSG00000166986"
}
},
"GRch38": {
"90": {
"location": "12:57475445-57517569",
"ensembl_id": "ENSG00000166986"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "MARS",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Novarino et al. (2014)",
"24482476"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review Red",
"Expert list"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"new-gene-name"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"VE-cadherin-2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8657",
"gene_name": "protocadherin 12",
"omim_gene": [
"605622"
],
"alias_name": null,
"gene_symbol": "PCDH12",
"hgnc_symbol": "PCDH12",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:141323150-141349304",
"ensembl_id": "ENSG00000113555"
}
},
"GRch38": {
"90": {
"location": "5:141943585-141969741",
"ensembl_id": "ENSG00000113555"
}
}
},
"hgnc_date_symbol_changed": "2000-06-28"
},
"entity_type": "gene",
"entity_name": "PCDH12",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27164683",
"29556033"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review"
],
"phenotypes": [
"microcephaly",
"perithalamic hyperechogenicity",
"midbrain abnormalities",
"intellectual disability",
"epilepsy",
"periventricular hyperechogenicity",
"hypothalamic abnormalities"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ12377",
"Bst1",
"SPG67"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25712",
"gene_name": "post-GPI attachment to proteins 1",
"omim_gene": [
"611655"
],
"alias_name": [
"GPI inositol-deacylase"
],
"gene_symbol": "PGAP1",
"hgnc_symbol": "PGAP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:197697728-197792520",
"ensembl_id": "ENSG00000197121"
}
},
"GRch38": {
"90": {
"location": "2:196833004-196927796",
"ensembl_id": "ENSG00000197121"
}
}
},
"hgnc_date_symbol_changed": "2008-02-26"
},
"entity_type": "gene",
"entity_name": "PGAP1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Novarino et al. (2014)",
"24482476"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review Red",
"Expert list"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FAD",
"S182",
"PS1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9508",
"gene_name": "presenilin 1",
"omim_gene": [
"104311"
],
"alias_name": null,
"gene_symbol": "PSEN1",
"hgnc_symbol": "PSEN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:73603126-73690399",
"ensembl_id": "ENSG00000080815"
}
},
"GRch38": {
"90": {
"location": "14:73136418-73223691",
"ensembl_id": "ENSG00000080815"
}
}
},
"hgnc_date_symbol_changed": "1992-11-05"
},
"entity_type": "gene",
"entity_name": "PSEN1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Yorkshire and North East GLH",
"Expert Review Red",
"NHS GMS",
"London North GLH",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Alzheimer disease, type 3, with spastic paraparesis and apraxia",
"Alzheimer disease, type 3, with spastic paraparesis and unusual plaques"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"AT-1",
"AT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:95",
"gene_name": "solute carrier family 33 member 1",
"omim_gene": [
"603690"
],
"alias_name": null,
"gene_symbol": "SLC33A1",
"hgnc_symbol": "SLC33A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:155538813-155572218",
"ensembl_id": "ENSG00000169359"
}
},
"GRch38": {
"90": {
"location": "3:155821024-155854429",
"ensembl_id": "ENSG00000169359"
}
}
},
"hgnc_date_symbol_changed": "2002-12-06"
},
"entity_type": "gene",
"entity_name": "SLC33A1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Lin et al. (2008)",
"19061983",
"25402622"
],
"evidence": [
"Expert Review Red",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR",
"Spastic paraplegia 42, autosomal dominant"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HumORF8",
"KIAA0055",
"UBPY",
"SPG59"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12631",
"gene_name": "ubiquitin specific peptidase 8",
"omim_gene": [
"603158"
],
"alias_name": null,
"gene_symbol": "USP8",
"hgnc_symbol": "USP8",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:50716577-50793280",
"ensembl_id": "ENSG00000138592"
}
},
"GRch38": {
"90": {
"location": "15:50424380-50514419",
"ensembl_id": "ENSG00000138592"
}
}
},
"hgnc_date_symbol_changed": "1999-02-01"
},
"entity_type": "gene",
"entity_name": "USP8",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Novarino et al. (2014)",
"24482476"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review Red",
"Expert list"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28984",
"gene_name": "WASH complex subunit 5",
"omim_gene": [
"610657"
],
"alias_name": [
"strumpellin"
],
"gene_symbol": "WASHC5",
"hgnc_symbol": "WASHC5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:126036502-126104082",
"ensembl_id": "ENSG00000164961"
}
},
"GRch38": {
"90": {
"location": "8:125024260-125091840",
"ensembl_id": "ENSG00000164961"
}
}
},
"hgnc_date_symbol_changed": "2016-10-14"
},
"entity_type": "gene",
"entity_name": "WASHC5",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17160902",
"23455931",
"26572744",
"31814071",
"33662919"
],
"evidence": [
"Expert Review Red",
"Yorkshire and North East GLH",
"NHS GMS",
"London North GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert list",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 8, autosomal dominant, OMIM:603563"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0569",
"SIP-1",
"SIP1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14881",
"gene_name": "zinc finger E-box binding homeobox 2",
"omim_gene": [
"605802"
],
"alias_name": [
"SMAD interacting protein 1"
],
"gene_symbol": "ZEB2",
"hgnc_symbol": "ZEB2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:145141648-145282147",
"ensembl_id": "ENSG00000169554"
}
},
"GRch38": {
"90": {
"location": "2:144364364-144524583",
"ensembl_id": "ENSG00000169554"
}
}
},
"hgnc_date_symbol_changed": "2007-02-15"
},
"entity_type": "gene",
"entity_name": "ZEB2",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Expert Review Red",
"UKGTN"
],
"phenotypes": [],
"mode_of_inheritance": "",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ32919",
"SPG33"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26559",
"gene_name": "zinc finger FYVE-type containing 27",
"omim_gene": [
"610243"
],
"alias_name": [
"protrudin"
],
"gene_symbol": "ZFYVE27",
"hgnc_symbol": "ZFYVE27",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:99496878-99520664",
"ensembl_id": "ENSG00000155256"
}
},
"GRch38": {
"90": {
"location": "10:97737121-97760907",
"ensembl_id": "ENSG00000155256"
}
}
},
"hgnc_date_symbol_changed": "2004-03-05"
},
"entity_type": "gene",
"entity_name": "ZFYVE27",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"Mannan AU (2006)",
"16826525",
"22554690",
"29980238"
],
"evidence": [
"NHS GMS",
"Yorkshire and North East GLH",
"Illumina TruGenome Clinical Sequencing Services",
"Expert Review Red",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Spastic paraplegia 33, autosomal dominant"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
}
],
"strs": [
{
"gene_data": {
"alias": [
"FA",
"FARR",
"X25",
"CyaY"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3951",
"gene_name": "frataxin",
"omim_gene": [
"606829"
],
"alias_name": null,
"gene_symbol": "FXN",
"hgnc_symbol": "FXN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:71650175-71715094",
"ensembl_id": "ENSG00000165060"
}
},
"GRch38": {
"90": {
"location": "9:69035259-69100178",
"ensembl_id": "ENSG00000165060"
}
}
},
"hgnc_date_symbol_changed": "2004-08-19"
},
"entity_type": "str",
"entity_name": "FXN_GAA",
"confidence_level": "3",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Friedreich ataxia, OMIM:229300",
"Friedreich ataxia with retained reflexes, OMIM:229300"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"repeated_sequence": "GAA",
"chromosome": "9",
"grch37_coordinates": [
71652203,
71652220
],
"grch38_coordinates": [
69037287,
69037304
],
"normal_repeats": 44,
"pathogenic_repeats": 66,
"tags": [
"STR"
]
},
{
"gene_data": {
"alias": [
"E46L",
"FLJ37990"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10549",
"gene_name": "ataxin 10",
"omim_gene": [
"611150"
],
"alias_name": null,
"gene_symbol": "ATXN10",
"hgnc_symbol": "ATXN10",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:46067678-46241187",
"ensembl_id": "ENSG00000130638"
}
},
"GRch38": {
"90": {
"location": "22:45671798-45845307",
"ensembl_id": "ENSG00000130638"
}
}
},
"hgnc_date_symbol_changed": "2004-08-12"
},
"entity_type": "str",
"entity_name": "ATXN10_ATTCT",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Spinocerebellar ataxia 10, OMIM:603516"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "ATTCT",
"chromosome": "22",
"grch37_coordinates": [
46191235,
46191304
],
"grch38_coordinates": [
45795355,
45795424
],
"normal_repeats": 33,
"pathogenic_repeats": 800,
"tags": [
"STR"
]
},
{
"gene_data": {
"alias": [
"D6S504E",
"ATX1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10548",
"gene_name": "ataxin 1",
"omim_gene": [
"601556"
],
"alias_name": null,
"gene_symbol": "ATXN1",
"hgnc_symbol": "ATXN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:16299343-16761722",
"ensembl_id": "ENSG00000124788"
}
},
"GRch38": {
"90": {
"location": "6:16299112-16761491",
"ensembl_id": "ENSG00000124788"
}
}
},
"hgnc_date_symbol_changed": "2004-08-13"
},
"entity_type": "str",
"entity_name": "ATXN1_CAG",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Spinocerebellar ataxia 1, OMIM:164400"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAG",
"chromosome": "6",
"grch37_coordinates": [
16327867,
16327953
],
"grch38_coordinates": [
16327636,
16327722
],
"normal_repeats": 36,
"pathogenic_repeats": 45,
"tags": [
"STR"
]
},
{
"gene_data": {
"alias": [
"ATX2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10555",
"gene_name": "ataxin 2",
"omim_gene": [
"601517"
],
"alias_name": [
"trinucleotide repeat containing 13"
],
"gene_symbol": "ATXN2",
"hgnc_symbol": "ATXN2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:111890018-112037480",
"ensembl_id": "ENSG00000204842"
}
},
"GRch38": {
"90": {
"location": "12:111452214-111599676",
"ensembl_id": "ENSG00000204842"
}
}
},
"hgnc_date_symbol_changed": "2004-08-13"
},
"entity_type": "str",
"entity_name": "ATXN2_CAG",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Spinocerebellar ataxia 2, OMIM:183090",
"{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAG",
"chromosome": "12",
"grch37_coordinates": [
112036755,
112036823
],
"grch38_coordinates": [
111598951,
111599019
],
"normal_repeats": 32,
"pathogenic_repeats": 35,
"tags": [
"STR"
]
},
{
"gene_data": {
"alias": [
"ATX3",
"JOS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7106",
"gene_name": "ataxin 3",
"omim_gene": [
"607047"
],
"alias_name": null,
"gene_symbol": "ATXN3",
"hgnc_symbol": "ATXN3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:92524896-92572965",
"ensembl_id": "ENSG00000066427"
}
},
"GRch38": {
"90": {
"location": "14:92038652-92106621",
"ensembl_id": "ENSG00000066427"
}
}
},
"hgnc_date_symbol_changed": "2004-08-13"
},
"entity_type": "str",
"entity_name": "ATXN3_CAG",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Machado-Joseph disease, OMIM:109150"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAG",
"chromosome": "14",
"grch37_coordinates": [
92537355,
92537396
],
"grch38_coordinates": [
92071011,
92071052
],
"normal_repeats": 45,
"pathogenic_repeats": 60,
"tags": [
"STR"
]
},
{
"gene_data": {
"alias": [
"OPCA3",
"ADCAII"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10560",
"gene_name": "ataxin 7",
"omim_gene": [
"607640"
],
"alias_name": null,
"gene_symbol": "ATXN7",
"hgnc_symbol": "ATXN7",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:63850233-63989138",
"ensembl_id": "ENSG00000163635"
}
},
"GRch38": {
"90": {
"location": "3:63864557-64003462",
"ensembl_id": "ENSG00000163635"
}
}
},
"hgnc_date_symbol_changed": "2004-08-12"
},
"entity_type": "str",
"entity_name": "ATXN7_CAG",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Spinocerebellar ataxia 7, OMIM:164500"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAG",
"chromosome": "3",
"grch37_coordinates": [
63898362,
63898391
],
"grch38_coordinates": [
63912686,
63912715
],
"normal_repeats": 28,
"pathogenic_repeats": 37,
"tags": [
"STR"
]
},
{
"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"
}
}
},
"hgnc_date_symbol_changed": "1996-06-18"
},
"entity_type": "str",
"entity_name": "CACNA1A_CAG",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Spinocerebellar ataxia 6, OMIM:183086"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAG",
"chromosome": "19",
"grch37_coordinates": [
13318673,
13318711
],
"grch38_coordinates": [
13207859,
13207897
],
"normal_repeats": 19,
"pathogenic_repeats": 20,
"tags": [
"STR"
]
},
{
"gene_data": {
"alias": [
"PR55-BETA",
"PR52B",
"B55beta"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9305",
"gene_name": "protein phosphatase 2 regulatory subunit Bbeta",
"omim_gene": [
"604325"
],
"alias_name": [
"PP2A subunit B isoform beta"
],
"gene_symbol": "PPP2R2B",
"hgnc_symbol": "PPP2R2B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:145967936-146464347",
"ensembl_id": "ENSG00000156475"
}
},
"GRch38": {
"90": {
"location": "5:146581146-147084784",
"ensembl_id": "ENSG00000156475"
}
}
},
"hgnc_date_symbol_changed": "1993-01-25"
},
"entity_type": "str",
"entity_name": "PPP2R2B_CAG",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Spinocerebellar ataxia 12, OMIM:604326"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAG",
"chromosome": "5",
"grch37_coordinates": [
146258292,
146258321
],
"grch38_coordinates": [
146878729,
146878758
],
"normal_repeats": 33,
"pathogenic_repeats": 43,
"tags": [
"STR"
]
},
{
"gene_data": {
"alias": [
"TFIID"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11588",
"gene_name": "TATA-box binding protein",
"omim_gene": [
"600075"
],
"alias_name": null,
"gene_symbol": "TBP",
"hgnc_symbol": "TBP",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:170863390-170881958",
"ensembl_id": "ENSG00000112592"
}
},
"GRch38": {
"90": {
"location": "6:170554302-170572870",
"ensembl_id": "ENSG00000112592"
}
}
},
"hgnc_date_symbol_changed": "1993-05-26"
},
"entity_type": "str",
"entity_name": "TBP_CAG",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Spinocerebellar ataxia 17, OMIM:607136"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAG",
"chromosome": "6",
"grch37_coordinates": [
170870996,
170871109
],
"grch38_coordinates": [
170561908,
170562021
],
"normal_repeats": 41,
"pathogenic_repeats": 49,
"tags": [
"STR"
]
},
{
"gene_data": {
"alias": [
"IT15"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4851",
"gene_name": "huntingtin",
"omim_gene": [
"613004"
],
"alias_name": null,
"gene_symbol": "HTT",
"hgnc_symbol": "HTT",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:3076408-3245676",
"ensembl_id": "ENSG00000197386"
}
},
"GRch38": {
"90": {
"location": "4:3074681-3243959",
"ensembl_id": "ENSG00000197386"
}
}
},
"hgnc_date_symbol_changed": "2007-12-04"
},
"entity_type": "str",
"entity_name": "HTT_CAG",
"confidence_level": "0",
"penetrance": null,
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Removed",
"Expert list"
],
"phenotypes": [
"Huntington disease, OMIM:143100"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAG",
"chromosome": "4",
"grch37_coordinates": [
3076604,
3076666
],
"grch38_coordinates": [
3074877,
3074939
],
"normal_repeats": 36,
"pathogenic_repeats": 40,
"tags": [
"STR",
"curated_removed"
]
}
],
"regions": [
{
"gene_data": null,
"entity_type": "region",
"entity_name": "ISCA-46304-Gain",
"verbose_name": "Xq28 region (includes MECP2) Gain",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"haploinsufficiency_score": "",
"triplosensitivity_score": "3",
"required_overlap_percentage": 60,
"type_of_variants": "cnv_gain",
"publications": [
"22679399",
"29141583",
"29618507",
"32043567"
],
"evidence": [
"ClinGen",
"Expert Review Green"
],
"phenotypes": [],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"chromosome": "X",
"grch37_coordinates": null,
"grch38_coordinates": [
154008529,
154110279
],
"tags": []
}
]
}