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{
"id": 123,
"hash_id": "5633857722c1fc582756e3d9",
"name": "Hereditary haemorrhagic telangiectasia",
"disease_group": "Respiratory disorders",
"disease_sub_group": "Vascular lung disorders",
"status": "public",
"version": "3.6",
"version_created": "2024-04-24T16:00:27.012923Z",
"relevant_disorders": [
"Familial and multiple pulmonary arteriovenous malformations",
"R186"
],
"stats": {
"number_of_genes": 15,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"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": [
"HHT2",
"ALK1",
"HHT"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:175",
"gene_name": "activin A receptor like type 1",
"omim_gene": [
"601284"
],
"alias_name": null,
"gene_symbol": "ACVRL1",
"hgnc_symbol": "ACVRL1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:52300692-52317145",
"ensembl_id": "ENSG00000139567"
}
},
"GRch38": {
"90": {
"location": "12:51906908-51923361",
"ensembl_id": "ENSG00000139567"
}
}
},
"hgnc_date_symbol_changed": "1994-12-12"
},
"entity_type": "gene",
"entity_name": "ACVRL1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"8640225",
"16155196",
"14684682"
],
"evidence": [
"NHS GMS",
"Eligibility statement prior genetic testing",
"Expert Review Green",
"Emory Genetics Laboratory",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Telangiectasia, hereditary hemorrhagic, type 2 600376",
"epistaxis",
"telangiectasia",
"hepatic arteriovenous malformation",
"pulmonary arteriovenous malformation",
"cerebral pulmonary arteriovenous malformation",
"pulmonary arterial hypertension"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"END",
"HHT1",
"CD105"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3349",
"gene_name": "endoglin",
"omim_gene": [
"131195"
],
"alias_name": null,
"gene_symbol": "ENG",
"hgnc_symbol": "ENG",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:130577291-130617035",
"ensembl_id": "ENSG00000106991"
}
},
"GRch38": {
"90": {
"location": "9:127815012-127854756",
"ensembl_id": "ENSG00000106991"
}
}
},
"hgnc_date_symbol_changed": "1993-03-03"
},
"entity_type": "gene",
"entity_name": "ENG",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"7894484",
"16155196",
"14684682",
"22192717",
"21967607",
"28989145"
],
"evidence": [
"NHS GMS",
"Eligibility statement prior genetic testing",
"Expert Review Green",
"Emory Genetics Laboratory",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Telangiectasia, hereditary hemorrhagic, type 1, 187300",
"Epistaxis (HP:0000421)",
"Nasal mucosa telangiectasia (HP:0000434)",
"Lip telangiectasia (HP:0000214)",
"Tongue telangiectasia (HP:0000227)",
"Palate telangiectasia (HP:0002707)",
"Finger pad telangiectasia (pulp not nail side)",
"Gastrointestinal telangiectasia (HP:0002604)",
"Arteriovenous malformation (HP:0100026)",
"Cerebral arteriovenous malformation (HP:0002408)",
"Pulmonary arteriovenous malformation (HP:0006548)",
"Hepatic arteriovenous malformation (HP:0006574",
")",
"Spinal arteriovenous malformation (HP:0002390)"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Tyro11"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3395",
"gene_name": "EPH receptor B4",
"omim_gene": [
"600011"
],
"alias_name": null,
"gene_symbol": "EPHB4",
"hgnc_symbol": "EPHB4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:100400187-100425121",
"ensembl_id": "ENSG00000196411"
}
},
"GRch38": {
"90": {
"location": "7:100802565-100827521",
"ensembl_id": "ENSG00000196411"
}
}
},
"hgnc_date_symbol_changed": "1994-12-15"
},
"entity_type": "gene",
"entity_name": "EPHB4",
"confidence_level": "3",
"penetrance": "Incomplete",
"mode_of_pathogenicity": null,
"publications": [
"28687708",
"28730721",
"30760892"
],
"evidence": [
"Expert Review Green",
"Other"
],
"phenotypes": [
"Capillary malformation-arteriovenous malformation 2, OMIM:618196",
"Capillary malformation, epistaxis, telangiectasia, cerebral AVM"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BMP-9",
"BMP9"
],
"biotype": null,
"hgnc_id": "HGNC:4217",
"gene_name": "growth differentiation factor 2",
"omim_gene": [
"605120"
],
"alias_name": null,
"gene_symbol": "GDF2",
"hgnc_symbol": "GDF2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:48413092-48416853",
"ensembl_id": "ENSG00000128802"
}
},
"GRch38": {
"90": {
"location": "10:47322490-47326270",
"ensembl_id": "ENSG00000263761"
}
}
},
"hgnc_date_symbol_changed": "1997-09-12"
},
"entity_type": "gene",
"entity_name": "GDF2",
"confidence_level": "3",
"penetrance": "Incomplete",
"mode_of_pathogenicity": "",
"publications": [
"34904380",
"23972370",
"27081547",
"25674101",
"32573726",
"32669404",
"33834622",
"https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Expert Review"
],
"phenotypes": [
"Telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506",
"telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GAP",
"CM-AVM",
"p120GAP",
"p120RASGAP",
"p120"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9871",
"gene_name": "RAS p21 protein activator 1",
"omim_gene": [
"139150"
],
"alias_name": [
"capillary malformation-arteriovenous malformation",
"p120 RAS GTPase activating protein"
],
"gene_symbol": "RASA1",
"hgnc_symbol": "RASA1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:86563705-86687748",
"ensembl_id": "ENSG00000145715"
}
},
"GRch38": {
"90": {
"location": "5:87267888-87391931",
"ensembl_id": "ENSG00000145715"
}
}
},
"hgnc_date_symbol_changed": "1989-06-30"
},
"entity_type": "gene",
"entity_name": "RASA1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"18446851",
"27081547",
"29891884",
"32900839"
],
"evidence": [
"Expert Review Green",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory"
],
"phenotypes": [
"Capillary malformation-arteriovenous malformation\t608354"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DPC4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6770",
"gene_name": "SMAD family member 4",
"omim_gene": [
"600993"
],
"alias_name": null,
"gene_symbol": "SMAD4",
"hgnc_symbol": "SMAD4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:48494410-48611415",
"ensembl_id": "ENSG00000141646"
}
},
"GRch38": {
"90": {
"location": "18:51028394-51085045",
"ensembl_id": "ENSG00000141646"
}
}
},
"hgnc_date_symbol_changed": "2004-05-26"
},
"entity_type": "gene",
"entity_name": "SMAD4",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"15031030"
],
"evidence": [
"NHS GMS",
"Eligibility statement prior genetic testing",
"Expert Review Green",
"Emory Genetics Laboratory",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BRK-3",
"T-ALK",
"BMPR3",
"BMPR-II"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1078",
"gene_name": "bone morphogenetic protein receptor type 2",
"omim_gene": [
"600799"
],
"alias_name": null,
"gene_symbol": "BMPR2",
"hgnc_symbol": "BMPR2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:203241659-203432474",
"ensembl_id": "ENSG00000204217"
}
},
"GRch38": {
"90": {
"location": "2:202376936-202567751",
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}
},
"hgnc_date_symbol_changed": "1997-03-19"
},
"entity_type": "gene",
"entity_name": "BMPR2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18792970"
],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"phenotypes": [
"Pulmonary hypertension, familial primary, 1, with or without HHT, 178600"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TEL1",
"TELO1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:795",
"gene_name": "ATM serine/threonine kinase",
"omim_gene": [
"607585"
],
"alias_name": [
"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"
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"hgnc_symbol": "ATM",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:108093211-108239829",
"ensembl_id": "ENSG00000149311"
}
},
"GRch38": {
"90": {
"location": "11:108222484-108369102",
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}
},
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},
"entity_type": "gene",
"entity_name": "ATM",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
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"2666519",
"2212727"
],
"evidence": [
"Expert Review Red",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Ataxia-telangiectasia, OMIM:208900"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FRP1",
"SCKL",
"SCKL1",
"MEC1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:882",
"gene_name": "ATR serine/threonine kinase",
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"alias_name": [
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"hgnc_symbol": "ATR",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:142168077-142297668",
"ensembl_id": "ENSG00000175054"
}
},
"GRch38": {
"90": {
"location": "3:142449235-142578826",
"ensembl_id": "ENSG00000175054"
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}
},
"hgnc_date_symbol_changed": "1998-04-06"
},
"entity_type": "gene",
"entity_name": "ATR",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
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"2666519",
"2212727"
],
"evidence": [
"Expert Review Red",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FREAC1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3809",
"gene_name": "forkhead box F1",
"omim_gene": [
"601089"
],
"alias_name": null,
"gene_symbol": "FOXF1",
"hgnc_symbol": "FOXF1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:86544133-86548076",
"ensembl_id": "ENSG00000103241"
}
},
"GRch38": {
"90": {
"location": "16:86510527-86515418",
"ensembl_id": "ENSG00000103241"
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}
},
"hgnc_date_symbol_changed": "1995-06-05"
},
"entity_type": "gene",
"entity_name": "FOXF1",
"confidence_level": "1",
"penetrance": "Complete",
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"publications": [
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"26462560",
"27071622"
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"evidence": [
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"UKGTN",
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"Illumina TruGenome Clinical Sequencing Services"
],
"phenotypes": [
"Alveolar capillary dysplasia with misalignment of pulmonary veins 265380"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CAM"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1573",
"gene_name": "KRIT1, ankyrin repeat containing",
"omim_gene": [
"604214"
],
"alias_name": null,
"gene_symbol": "KRIT1",
"hgnc_symbol": "KRIT1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:91828283-91875480",
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},
"GRch38": {
"90": {
"location": "7:92198969-92246166",
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}
},
"hgnc_date_symbol_changed": "2005-03-17"
},
"entity_type": "gene",
"entity_name": "KRIT1",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
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"Expert Review Red",
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"phenotypes": [
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"Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ATLD"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7230",
"gene_name": "MRE11 homolog, double strand break repair nuclease",
"omim_gene": [
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"alias_name": [
"AT-like disease"
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"hgnc_symbol": "MRE11",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:94152895-94227074",
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},
"GRch38": {
"90": {
"location": "11:94415578-94493908",
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}
},
"hgnc_date_symbol_changed": "2016-09-30"
},
"entity_type": "gene",
"entity_name": "MRE11",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"6417247",
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"2212727"
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"evidence": [
"Expert Review Red",
"UKGTN",
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"Radboud University Medical Center, Nijmegen"
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"phenotypes": [
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"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"
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"alias_name": null,
"gene_symbol": "PIK3CA",
"hgnc_symbol": "PIK3CA",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:178865902-178957881",
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},
"GRch38": {
"90": {
"location": "3:179148114-179240093",
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}
}
},
"hgnc_date_symbol_changed": "1994-07-15"
},
"entity_type": "gene",
"entity_name": "PIK3CA",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27030594",
"27030595"
],
"evidence": [
"Expert Review Red",
"UKGTN"
],
"phenotypes": [
"Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",
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"mode_of_inheritance": "Unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11194",
"gene_name": "SRY-box 18",
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"601618"
],
"alias_name": null,
"gene_symbol": "SOX18",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:62679076-62680994",
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}
},
"GRch38": {
"90": {
"location": "20:64047582-64049641",
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}
},
"hgnc_date_symbol_changed": "2000-07-31"
},
"entity_type": "gene",
"entity_name": "SOX18",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Hypotrichosis-lymphedema-telangiectasia syndrome, 607823",
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],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
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"600221"
],
"alias_name": null,
"gene_symbol": "TEK",
"hgnc_symbol": "TEK",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:27109139-27230173",
"ensembl_id": "ENSG00000120156"
}
},
"GRch38": {
"90": {
"location": "9:27109141-27230175",
"ensembl_id": "ENSG00000120156"
}
}
},
"hgnc_date_symbol_changed": "1994-05-24"
},
"entity_type": "gene",
"entity_name": "TEK",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27519652"
],
"evidence": [
"Radboud University Medical Center, Nijmegen",
"Expert Review Red",
"Illumina TruGenome Clinical Sequencing Services"
],
"phenotypes": [
"Venous malformations, multiple cutaneous and mucosal 600195"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}