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{
"id": 551,
"hash_id": null,
"name": "Surfactant deficiency",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "1.11",
"version_created": "2023-10-26T01:20:41.465241Z",
"relevant_disorders": [
"R192"
],
"stats": {
"number_of_genes": 8,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"genes": [
{
"gene_data": {
"alias": [
"ABC-C",
"EST111653",
"LBM180"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:33",
"gene_name": "ATP binding cassette subfamily A member 3",
"omim_gene": [
"601615"
],
"alias_name": null,
"gene_symbol": "ABCA3",
"hgnc_symbol": "ABCA3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:2325882-2390747",
"ensembl_id": "ENSG00000167972"
}
},
"GRch38": {
"90": {
"location": "16:2275881-2340746",
"ensembl_id": "ENSG00000167972"
}
}
},
"hgnc_date_symbol_changed": "1996-08-08"
},
"entity_type": "gene",
"entity_name": "ABCA3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"15044640",
"17719949"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TTF-1",
"TTF1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11825",
"gene_name": "NK2 homeobox 1",
"omim_gene": [
"600635"
],
"alias_name": null,
"gene_symbol": "NKX2-1",
"hgnc_symbol": "NKX2-1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:36985602-36990354",
"ensembl_id": "ENSG00000136352"
}
},
"GRch38": {
"90": {
"location": "14:36516392-36521149",
"ensembl_id": "ENSG00000136352"
}
}
},
"hgnc_date_symbol_changed": "2007-07-26"
},
"entity_type": "gene",
"entity_name": "NKX2-1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23787483",
"15289765"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Neuroendocrine cell hyperplasia of infancy",
"Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SP-B"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10801",
"gene_name": "surfactant protein B",
"omim_gene": [
"178640"
],
"alias_name": null,
"gene_symbol": "SFTPB",
"hgnc_symbol": "SFTPB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:85884437-85895864",
"ensembl_id": "ENSG00000168878"
}
},
"GRch38": {
"90": {
"location": "2:85657314-85668741",
"ensembl_id": "ENSG00000168878"
}
}
},
"hgnc_date_symbol_changed": "1988-07-06"
},
"entity_type": "gene",
"entity_name": "SFTPB",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"8163685",
"12501227",
"10712351"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SP-C",
"PSP-C",
"SMDP2",
"BRICD6"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10802",
"gene_name": "surfactant protein C",
"omim_gene": [
"178620"
],
"alias_name": [
"BRICHOS domain containing 6"
],
"gene_symbol": "SFTPC",
"hgnc_symbol": "SFTPC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:22014426-22021992",
"ensembl_id": "ENSG00000168484"
}
},
"GRch38": {
"90": {
"location": "8:22156913-22164479",
"ensembl_id": "ENSG00000168484"
}
}
},
"hgnc_date_symbol_changed": "1988-05-11"
},
"entity_type": "gene",
"entity_name": "SFTPC",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11207353",
"19443464"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SP-A2",
"COLEC5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10799",
"gene_name": "surfactant protein A2",
"omim_gene": [
"178642"
],
"alias_name": [
"surfactant, pulmonary-associated protein A2A"
],
"gene_symbol": "SFTPA2",
"hgnc_symbol": "SFTPA2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:81315608-81320153",
"ensembl_id": "ENSG00000185303"
}
},
"GRch38": {
"90": {
"location": "10:79555852-79560402",
"ensembl_id": "ENSG00000185303"
}
}
},
"hgnc_date_symbol_changed": "1997-04-16"
},
"entity_type": "gene",
"entity_name": "SFTPA2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"19100526",
"26568241"
],
"evidence": [
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Pulmonary fibrosis, idiopathic, OMIM:178500"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"IL5RB",
"CD131",
"betaGMR"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2436",
"gene_name": "colony stimulating factor 2 receptor beta common subunit",
"omim_gene": [
"138981"
],
"alias_name": [
"beta common cytokine receptor",
"beta-GM-CSF receptor"
],
"gene_symbol": "CSF2RB",
"hgnc_symbol": "CSF2RB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:37309670-37336491",
"ensembl_id": "ENSG00000100368"
}
},
"GRch38": {
"90": {
"location": "22:36913628-36940449",
"ensembl_id": "ENSG00000100368"
}
}
},
"hgnc_date_symbol_changed": "1991-08-07"
},
"entity_type": "gene",
"entity_name": "CSF2RB",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"NHS GMS"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SP-D",
"COLEC7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10803",
"gene_name": "surfactant protein D",
"omim_gene": [
"178635"
],
"alias_name": null,
"gene_symbol": "SFTPD",
"hgnc_symbol": "SFTPD",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:81697496-81742370",
"ensembl_id": "ENSG00000133661"
}
},
"GRch38": {
"90": {
"location": "10:79937740-79982614",
"ensembl_id": "ENSG00000133661"
}
}
},
"hgnc_date_symbol_changed": "1992-06-26"
},
"entity_type": "gene",
"entity_name": "SFTPD",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"NHS GMS"
],
"phenotypes": [],
"mode_of_inheritance": "",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TRT",
"TP2",
"TCS1",
"hEST2",
"EST2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11730",
"gene_name": "telomerase reverse transcriptase",
"omim_gene": [
"187270"
],
"alias_name": null,
"gene_symbol": "TERT",
"hgnc_symbol": "TERT",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:1253262-1295184",
"ensembl_id": "ENSG00000164362"
}
},
"GRch38": {
"90": {
"location": "5:1253147-1295069",
"ensembl_id": "ENSG00000164362"
}
}
},
"hgnc_date_symbol_changed": "1998-01-21"
},
"entity_type": "gene",
"entity_name": "TERT",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"NHS GMS"
],
"phenotypes": [],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}