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{
"id": 507,
"hash_id": null,
"name": "Common craniosynostosis syndromes",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "1.15",
"version_created": "2023-10-25T21:20:15.186400Z",
"relevant_disorders": [
"R99"
],
"stats": {
"number_of_genes": 7,
"number_of_strs": 0,
"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": "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": [
"LERK2",
"Elk-L"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3226",
"gene_name": "ephrin B1",
"omim_gene": [
"300035"
],
"alias_name": null,
"gene_symbol": "EFNB1",
"hgnc_symbol": "EFNB1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:68048840-68061990",
"ensembl_id": "ENSG00000090776"
}
},
"GRch38": {
"90": {
"location": "X:68828997-68842147",
"ensembl_id": "ENSG00000090776"
}
}
},
"hgnc_date_symbol_changed": "1995-01-17"
},
"entity_type": "gene",
"entity_name": "EFNB1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "Other",
"publications": [],
"evidence": [
"NHS GMS",
"Expert list",
"Expert Review Green"
],
"phenotypes": [
"Craniofrontonasal dysplasia OMIM:304110"
],
"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": [
"PE-2",
"PE2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3444",
"gene_name": "ETS2 repressor factor",
"omim_gene": [
"611888"
],
"alias_name": null,
"gene_symbol": "ERF",
"hgnc_symbol": "ERF",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:42751724-42759309",
"ensembl_id": "ENSG00000105722"
}
},
"GRch38": {
"90": {
"location": "19:42247572-42255157",
"ensembl_id": "ENSG00000105722"
}
}
},
"hgnc_date_symbol_changed": "1998-07-17"
},
"entity_type": "gene",
"entity_name": "ERF",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert list",
"Expert Review Green"
],
"phenotypes": [
"Craniosynostosis 4 OMIM:600775"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"H2",
"H3",
"H4",
"H5",
"CEK",
"FLG",
"BFGFR",
"N-SAM",
"CD331"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3688",
"gene_name": "fibroblast growth factor receptor 1",
"omim_gene": [
"136350"
],
"alias_name": [
"Pfeiffer syndrome"
],
"gene_symbol": "FGFR1",
"hgnc_symbol": "FGFR1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:38268656-38326352",
"ensembl_id": "ENSG00000077782"
}
},
"GRch38": {
"90": {
"location": "8:38411138-38468834",
"ensembl_id": "ENSG00000077782"
}
}
},
"hgnc_date_symbol_changed": "1992-02-25"
},
"entity_type": "gene",
"entity_name": "FGFR1",
"confidence_level": "3",
"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": [],
"evidence": [
"NHS GMS",
"Expert list",
"Expert Review Green"
],
"phenotypes": [
"Jackson-Weiss syndrome OMIM:123150",
"Osteoglophonic dysplasia OMIM:166250",
"Pfeiffer syndrome OMIM:101600",
"Trigonocephaly 1 OMIM:190440"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CEK3",
"TK14",
"TK25",
"ECT1",
"K-SAM",
"CD332"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3689",
"gene_name": "fibroblast growth factor receptor 2",
"omim_gene": [
"176943"
],
"alias_name": [
"Crouzon syndrome",
"Pfeiffer syndrome"
],
"gene_symbol": "FGFR2",
"hgnc_symbol": "FGFR2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:123237848-123357972",
"ensembl_id": "ENSG00000066468"
}
},
"GRch38": {
"90": {
"location": "10:121478334-121598458",
"ensembl_id": "ENSG00000066468"
}
}
},
"hgnc_date_symbol_changed": "1991-05-09"
},
"entity_type": "gene",
"entity_name": "FGFR2",
"confidence_level": "3",
"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": [],
"evidence": [
"NHS GMS",
"Expert list",
"Expert Review Green"
],
"phenotypes": [
"Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410",
"Apert syndrome OMIM:101200",
"Beare-Stevenson cutis gyrata syndrome OMIM:123790",
"Pfeiffer syndrome OMIM:101600",
"Craniofacial-skeletal-dermatologic dysplasia OMIM:101600",
"Crouzon syndrome OMIM:123500",
"Jackson-Weiss syndrome OMIM:123150",
"Saethre-Chotzen syndrome OMIM:101400",
"Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CEK2",
"JTK4",
"CD333"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3690",
"gene_name": "fibroblast growth factor receptor 3",
"omim_gene": [
"134934"
],
"alias_name": null,
"gene_symbol": "FGFR3",
"hgnc_symbol": "FGFR3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:1795034-1810599",
"ensembl_id": "ENSG00000068078"
}
},
"GRch38": {
"90": {
"location": "4:1793307-1808872",
"ensembl_id": "ENSG00000068078"
}
}
},
"hgnc_date_symbol_changed": "1991-06-07"
},
"entity_type": "gene",
"entity_name": "FGFR3",
"confidence_level": "3",
"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": [],
"evidence": [
"NHS GMS",
"Expert list",
"Expert Review Green"
],
"phenotypes": [
"Muenke syndrome OMIM:602849",
"Crouzon syndrome with acanthosis nigricans OMIM:612247",
"Thanatophoric dysplasia, type I OMIM:187600",
"Thanatophoric dysplasia, type II OMIM:187601"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HEB",
"HTF4",
"HsT17266",
"bHLHb20"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11623",
"gene_name": "transcription factor 12",
"omim_gene": [
"600480"
],
"alias_name": [
"helix-loop-helix transcription factor 4"
],
"gene_symbol": "TCF12",
"hgnc_symbol": "TCF12",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:57210821-57591479",
"ensembl_id": "ENSG00000140262"
}
},
"GRch38": {
"90": {
"location": "15:56918623-57299281",
"ensembl_id": "ENSG00000140262"
}
}
},
"hgnc_date_symbol_changed": "1994-06-17"
},
"entity_type": "gene",
"entity_name": "TCF12",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert list",
"Expert Review Green"
],
"phenotypes": [
"Craniosynostosis 3 OMIM:615314"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SCS",
"H-twist",
"BPES2",
"bHLHa38",
"CRS1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12428",
"gene_name": "twist family bHLH transcription factor 1",
"omim_gene": [
"601622"
],
"alias_name": [
"Saethre-Chotzen syndrome"
],
"gene_symbol": "TWIST1",
"hgnc_symbol": "TWIST1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:19060614-19157295",
"ensembl_id": "ENSG00000122691"
}
},
"GRch38": {
"90": {
"location": "7:19020991-19117672",
"ensembl_id": "ENSG00000122691"
}
}
},
"hgnc_date_symbol_changed": "2003-03-28"
},
"entity_type": "gene",
"entity_name": "TWIST1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert list",
"Expert Review Green"
],
"phenotypes": [
"Craniosynostosis 1 OMIM:123100",
"Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}