HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"id": 736,
"name": "Neurological segmental overgrowth",
"strs": [],
"genes": [
{
"tags": [],
"evidence": [
"Expert Review Green"
],
"gene_data": {
"alias": [
"RAC",
"PKB",
"PRKBA",
"AKT"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:391",
"gene_name": "AKT serine/threonine kinase 1",
"omim_gene": [
"164730"
],
"alias_name": null,
"gene_symbol": "AKT1",
"hgnc_symbol": "AKT1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:105235686-105262088",
"ensembl_id": "ENSG00000142208"
}
},
"GRch38": {
"90": {
"location": "14:104769349-104795751",
"ensembl_id": "ENSG00000142208"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": null,
"phenotypes": [
"Proteus syndrome, 176920",
"Proteus syndrome, somatic,176920",
"Macrocephaly and Overgrowth Syndromes",
"Segmental Overgrowth Syndrome",
"Proteus syndrome"
],
"transcript": null,
"entity_name": "AKT1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green"
],
"gene_data": {
"alias": [
"PKBG",
"RAC-gamma",
"PRKBG"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:393",
"gene_name": "AKT serine/threonine kinase 3",
"omim_gene": [
"611223"
],
"alias_name": [
"protein kinase B, gamma"
],
"gene_symbol": "AKT3",
"hgnc_symbol": "AKT3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:243651535-244014381",
"ensembl_id": "ENSG00000117020"
}
},
"GRch38": {
"90": {
"location": "1:243488233-243851079",
"ensembl_id": "ENSG00000117020"
}
}
},
"hgnc_date_symbol_changed": "1999-11-16"
},
"penetrance": null,
"phenotypes": [
"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937",
"Macrocephaly and Overgrowth Syndromes",
"MPPH2",
"Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2"
],
"transcript": null,
"entity_name": "AKT3",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1583",
"gene_name": "cyclin D2",
"omim_gene": [
"123833"
],
"alias_name": [
"G1/S-specific cyclin D2"
],
"gene_symbol": "CCND2",
"hgnc_symbol": "CCND2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:4382938-4414516",
"ensembl_id": "ENSG00000118971"
}
},
"GRch38": {
"90": {
"location": "12:4273772-4305350",
"ensembl_id": "ENSG00000118971"
}
}
},
"hgnc_date_symbol_changed": "1991-12-10"
},
"penetrance": null,
"phenotypes": [
"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938",
"MPPH3",
"Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3"
],
"transcript": null,
"entity_name": "CCND2",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green"
],
"gene_data": {
"alias": [
"PI3K"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8975",
"gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
"omim_gene": [
"171834"
],
"alias_name": null,
"gene_symbol": "PIK3CA",
"hgnc_symbol": "PIK3CA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:178865902-178957881",
"ensembl_id": "ENSG00000121879"
}
},
"GRch38": {
"90": {
"location": "3:179148114-179240093",
"ensembl_id": "ENSG00000121879"
}
}
},
"hgnc_date_symbol_changed": "1994-07-15"
},
"penetrance": null,
"phenotypes": [
"Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501",
"CLOVE syndrome",
"CLOVES",
"congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918",
"Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome",
"CLOVES syndrome",
"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic",
"Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",
"Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome",
"macrocephaly-capillary malformation (MCM) syndrome",
"Megalencephaly-Capillary malformation syndrome",
"Macrocephaly and Overgrowth Syndromes",
"MCAP"
],
"transcript": null,
"entity_name": "PIK3CA",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green"
],
"gene_data": {
"alias": [
"P85B",
"p85"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8980",
"gene_name": "phosphoinositide-3-kinase regulatory subunit 2",
"omim_gene": [
"603157"
],
"alias_name": [
"phosphoinositide-3-kinase regulatory subunit beta"
],
"gene_symbol": "PIK3R2",
"hgnc_symbol": "PIK3R2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:18263928-18281350",
"ensembl_id": "ENSG00000105647"
}
},
"GRch38": {
"90": {
"location": "19:18153118-18170540",
"ensembl_id": "ENSG00000105647"
}
}
},
"hgnc_date_symbol_changed": "1992-12-08"
},
"penetrance": null,
"phenotypes": [
"MPPH1",
"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387",
"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387",
"Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1",
"Macrocephaly and Overgrowth Syndromes"
],
"transcript": null,
"entity_name": "PIK3R2",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green"
],
"gene_data": {
"alias": [
"MMAC1",
"TEP1",
"PTEN1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9588",
"gene_name": "phosphatase and tensin homolog",
"omim_gene": [
"601728"
],
"alias_name": [
"mutated in multiple advanced cancers 1"
],
"gene_symbol": "PTEN",
"hgnc_symbol": "PTEN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:89622870-89731687",
"ensembl_id": "ENSG00000171862"
}
},
"GRch38": {
"90": {
"location": "10:87863113-87971930",
"ensembl_id": "ENSG00000171862"
}
}
},
"hgnc_date_symbol_changed": "1997-04-21"
},
"penetrance": null,
"phenotypes": [
"hemihypertrophy",
"Bannayan Riley Ruvalcalba Syndrome",
"Bannayan-Riley-Ruvalcaba Syndrome",
"Proteus-like syndrome",
"macrocephaly",
"Bannayan-Riley-Ruvalcaba syndrome, 153480",
"BRRS",
"Bannayan-Riley-Ruvalcaba syndrome,153480",
"megalencephaly",
"PTEN Hamartoma Tumor Syndrome",
"Macrocephaly and Overgrowth Syndromes",
"PHTS",
"Cowden syndrome"
],
"transcript": null,
"entity_name": "PTEN",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:392",
"gene_name": "AKT serine/threonine kinase 2",
"omim_gene": [
"164731"
],
"alias_name": null,
"gene_symbol": "AKT2",
"hgnc_symbol": "AKT2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:40736224-40791443",
"ensembl_id": "ENSG00000105221"
}
},
"GRch38": {
"90": {
"location": "19:40230317-40285536",
"ensembl_id": "ENSG00000105221"
}
}
},
"hgnc_date_symbol_changed": "1992-11-05"
},
"penetrance": null,
"phenotypes": [
"HIHGHH",
"Hypoinsulinemic hypoglycemia with hemihypertrophy",
"Hypoinsulinemic hypoglycemia with hemihypertrophy,240900",
"Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900"
],
"transcript": null,
"entity_name": "AKT2",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:5173",
"gene_name": "HRas proto-oncogene, GTPase",
"omim_gene": [
"190020"
],
"alias_name": null,
"gene_symbol": "HRAS",
"hgnc_symbol": "HRAS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:532242-537287",
"ensembl_id": "ENSG00000174775"
}
},
"GRch38": {
"90": {
"location": "11:532242-537287",
"ensembl_id": "ENSG00000174775"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": null,
"phenotypes": [
"Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200",
"Hemimegalencephaly"
],
"transcript": null,
"entity_name": "HRAS",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"KRAS1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6407",
"gene_name": "KRAS proto-oncogene, GTPase",
"omim_gene": [
"190070"
],
"alias_name": null,
"gene_symbol": "KRAS",
"hgnc_symbol": "KRAS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:25357723-25403870",
"ensembl_id": "ENSG00000133703"
}
},
"GRch38": {
"90": {
"location": "12:25204789-25250936",
"ensembl_id": "ENSG00000133703"
}
}
},
"hgnc_date_symbol_changed": "2005-01-24"
},
"penetrance": null,
"phenotypes": [
"Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200",
"Hemimegalencephaly"
],
"transcript": null,
"entity_name": "KRAS",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"RAFT1",
"RAPT1",
"FLJ44809"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3942",
"gene_name": "mechanistic target of rapamycin kinase",
"omim_gene": [
"601231"
],
"alias_name": [
"FK506 binding protein 12-rapamycin associated protein 2",
"rapamycin target protein",
"FKBP12-rapamycin complex-associated protein 1",
"FKBP-rapamycin associated protein",
"rapamycin associated protein FRAP2",
"dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)",
"rapamycin and FKBP12 target 1",
"mammalian target of rapamycin"
],
"gene_symbol": "MTOR",
"hgnc_symbol": "MTOR",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:11166592-11322564",
"ensembl_id": "ENSG00000198793"
}
},
"GRch38": {
"90": {
"location": "1:11106535-11262507",
"ensembl_id": "ENSG00000198793"
}
}
},
"hgnc_date_symbol_changed": "2009-05-29"
},
"penetrance": null,
"phenotypes": [
"Segmental Overgrowth Syndrome",
"HME",
"Hemimegalencephaly"
],
"transcript": null,
"entity_name": "MTOR",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"N-ras"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7989",
"gene_name": "NRAS proto-oncogene, GTPase",
"omim_gene": [
"164790"
],
"alias_name": null,
"gene_symbol": "NRAS",
"hgnc_symbol": "NRAS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:115247090-115259515",
"ensembl_id": "ENSG00000213281"
}
},
"GRch38": {
"90": {
"location": "1:114704469-114716894",
"ensembl_id": "ENSG00000213281"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": null,
"phenotypes": [
"Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200",
"Hemimegalencephaly"
],
"transcript": null,
"entity_name": "NRAS",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"dJ257A7.3",
"FLJ32666"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:21066",
"gene_name": "TBC1 domain family member 7",
"omim_gene": [
"612655"
],
"alias_name": [
"TS complex subunit 3"
],
"gene_symbol": "TBC1D7",
"hgnc_symbol": "TBC1D7",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:13266774-13328815",
"ensembl_id": "ENSG00000145979"
}
},
"GRch38": {
"90": {
"location": "6:13266542-13328583",
"ensembl_id": "ENSG00000145979"
}
}
},
"hgnc_date_symbol_changed": "2003-05-14"
},
"penetrance": null,
"phenotypes": [
"MGCPH",
"Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000"
],
"transcript": null,
"entity_name": "TBC1D7",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 12,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "Component Of Super Panel",
"slug": "component-of-super-panel",
"description": "This panel is a component of a Super Panel"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"regions": [],
"version": "1.4",
"disease_group": "",
"version_created": "2020-03-04T11:44:50.433045Z",
"disease_sub_group": "",
"relevant_disorders": [],
"signed_off": "2020-03-04"
}