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{
"id": 312,
"hash_id": "55bf826222c1fc0fe45530c1",
"name": "Familial hypoparathyroidism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Disorders of calcium homeostasis",
"status": "public",
"version": "2.15",
"version_created": "2024-05-01T12:37:03.614765Z",
"relevant_disorders": [
"Familial or syndromic hypoparathyroidism",
"R153"
],
"stats": {
"number_of_genes": 10,
"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": [
"PGA1",
"APS1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:360",
"gene_name": "autoimmune regulator",
"omim_gene": [
"607358"
],
"alias_name": [
"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"
],
"gene_symbol": "AIRE",
"hgnc_symbol": "AIRE",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "21:45705721-45718531",
"ensembl_id": "ENSG00000160224"
}
},
"GRch38": {
"90": {
"location": "21:44285838-44298648",
"ensembl_id": "ENSG00000160224"
}
}
},
"hgnc_date_symbol_changed": "1997-09-05"
},
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"entity_name": "AIRE",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Expert list"
],
"phenotypes": [
"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia\t240300"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FHH",
"NSHPT",
"GPRC2A"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1514",
"gene_name": "calcium sensing receptor",
"omim_gene": [
"601199"
],
"alias_name": [
"severe neonatal hyperparathyroidism"
],
"gene_symbol": "CASR",
"hgnc_symbol": "CASR",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:121902530-122005342",
"ensembl_id": "ENSG00000036828"
}
},
"GRch38": {
"90": {
"location": "3:122183683-122291629",
"ensembl_id": "ENSG00000036828"
}
}
},
"hgnc_date_symbol_changed": "1992-12-04"
},
"entity_type": "gene",
"entity_name": "CASR",
"confidence_level": "3",
"penetrance": "Complete",
"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": [
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Expert list",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services"
],
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"Hyperparathyroidism, neonatal, 239200",
"Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HDR"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4172",
"gene_name": "GATA binding protein 3",
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"131320"
],
"alias_name": null,
"gene_symbol": "GATA3",
"hgnc_symbol": "GATA3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:8095567-8117161",
"ensembl_id": "ENSG00000107485"
}
},
"GRch38": {
"90": {
"location": "10:8053604-8075198",
"ensembl_id": "ENSG00000107485"
}
}
},
"hgnc_date_symbol_changed": "1992-11-03"
},
"entity_type": "gene",
"entity_name": "GATA3",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"Expert list",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"hGCMb"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4198",
"gene_name": "glial cells missing homolog 2",
"omim_gene": [
"603716"
],
"alias_name": null,
"gene_symbol": "GCM2",
"hgnc_symbol": "GCM2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:10873456-10882174",
"ensembl_id": "ENSG00000124827"
}
},
"GRch38": {
"90": {
"location": "6:10873223-10881941",
"ensembl_id": "ENSG00000124827"
}
}
},
"hgnc_date_symbol_changed": "2002-09-27"
},
"entity_type": "gene",
"entity_name": "GCM2",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"18712808",
"22066718",
"20463099",
"20190276"
],
"evidence": [
"Expert Review Green",
"Expert list",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Hypoparathyroidism, familial isolated, 146200"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FBH",
"FBH2",
"FHH2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4379",
"gene_name": "G protein subunit alpha 11",
"omim_gene": [
"139313"
],
"alias_name": null,
"gene_symbol": "GNA11",
"hgnc_symbol": "GNA11",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:3094408-3124002",
"ensembl_id": "ENSG00000088256"
}
},
"GRch38": {
"90": {
"location": "19:3094410-3124004",
"ensembl_id": "ENSG00000088256"
}
}
},
"hgnc_date_symbol_changed": "1992-07-20"
},
"entity_type": "gene",
"entity_name": "GNA11",
"confidence_level": "3",
"penetrance": "Complete",
"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": [
"23802516",
"24823460",
"23782177"
],
"evidence": [
"Expert list",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Literature"
],
"phenotypes": [
"Hypocalcemia, autosomal dominant 2, 615361",
"hypercalcemia, type II, 145981"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PTH1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9606",
"gene_name": "parathyroid hormone",
"omim_gene": [
"168450"
],
"alias_name": [
"parathyrin",
"parathormone",
"parathyroid hormone 1",
"preproparathyroid hormone",
"prepro-PTH"
],
"gene_symbol": "PTH",
"hgnc_symbol": "PTH",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:13513602-13517728",
"ensembl_id": "ENSG00000152266"
}
},
"GRch38": {
"90": {
"location": "11:13492055-13496181",
"ensembl_id": "ENSG00000152266"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "PTH",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"Expert list",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Hypoparathyroidism, autosomal dominant, 146200",
"Hypoparathyroidism, autosomal recessive, 146200"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KCS1",
"pac2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11582",
"gene_name": "tubulin folding cofactor E",
"omim_gene": [
"604934"
],
"alias_name": null,
"gene_symbol": "TBCE",
"hgnc_symbol": "TBCE",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:235530675-235612283",
"ensembl_id": "ENSG00000116957"
}
},
"GRch38": {
"90": {
"location": "1:235367360-235448968",
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},
"107": {
"location": "1:235367360-235452443",
"ensembl_id": "ENSG00000284770"
}
}
},
"hgnc_date_symbol_changed": "1998-07-31"
},
"entity_type": "gene",
"entity_name": "TBCE",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"12389028",
"16938882"
],
"evidence": [
"Expert Review Green",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Hypoparathyroidism-retardation-dysmorphism syndrome, 241410",
"Caffey syndrome, type 1, 244460"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"hsyn16",
"SYN16"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11431",
"gene_name": "syntaxin 16",
"omim_gene": [
"603666"
],
"alias_name": null,
"gene_symbol": "STX16",
"hgnc_symbol": "STX16",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:57226328-57254582",
"ensembl_id": "ENSG00000124222"
}
},
"GRch38": {
"90": {
"location": "20:58651253-58679526",
"ensembl_id": "ENSG00000124222"
}
}
},
"hgnc_date_symbol_changed": "1998-11-30"
},
"entity_type": "gene",
"entity_name": "STX16",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"14561710",
"15579741",
"15800843",
"33320452",
"32337648",
"35119251"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Pseudohypoparathyroidism, type IB OMIM:603233",
"pseudohypoparathyroidism type 1B:MONDO:0011301"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"non-coding-known-pathogenic",
"cnv",
"Q4_22_MOI",
"Q4_22_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"CATCH22"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11592",
"gene_name": "T-box 1",
"omim_gene": [
"602054"
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"alias_name": null,
"gene_symbol": "TBX1",
"hgnc_symbol": "TBX1",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:19744226-19771116",
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},
"GRch38": {
"90": {
"location": "22:19756703-19783593",
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}
},
"hgnc_date_symbol_changed": "1997-05-15"
},
"entity_type": "gene",
"entity_name": "TBX1",
"confidence_level": "2",
"penetrance": "unknown",
"mode_of_pathogenicity": null,
"publications": [
"14585638",
"17273972",
"30137364"
],
"evidence": [
"Expert Review Amber",
"Other"
],
"phenotypes": [
"DiGeorge syndrome, OMIM:188400",
"Conotruncal anomaly face syndrome, OMIM:217095",
"Velocardiofacial syndrome, OMIM:192430"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"Q1_23_promote_green"
],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11199",
"gene_name": "SRY-box 3",
"omim_gene": [
"313430"
],
"alias_name": null,
"gene_symbol": "SOX3",
"hgnc_symbol": "SOX3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:139585152-139587225",
"ensembl_id": "ENSG00000134595"
}
},
"GRch38": {
"90": {
"location": "X:140502985-140505116",
"ensembl_id": "ENSG00000134595"
}
}
},
"hgnc_date_symbol_changed": "1993-11-30"
},
"entity_type": "gene",
"entity_name": "SOX3",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"6167084"
],
"evidence": [
"Expert Review Red",
"Expert list"
],
"phenotypes": [
"Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123",
"Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252",
"Panhypopituitarism, X-linked, OMIM:312000",
"Panhypopituitarism, X-linked, MONDO:0010712"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}