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{
"id": 126,
"hash_id": "558ac48fbb5a16630dcfeaad",
"name": "Monogenic hearing loss",
"disease_group": "Hearing and ear disorders",
"disease_sub_group": "Non-syndromic hearing loss",
"status": "public",
"version": "4.41",
"version_created": "2024-05-02T10:13:37.221689Z",
"relevant_disorders": [
"Hearing loss",
"Congenital hearing impairment",
"Autosomal dominant deafness",
"Congenital hearing impairment (profound/severe)",
"Non-syndromic hearing loss",
"R67"
],
"stats": {
"number_of_genes": 422,
"number_of_strs": 0,
"number_of_regions": 1
},
"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": "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."
}
],
"genes": [
{
"gene_data": {
"alias": [
"DKFZP434P106",
"dJ965G21.2",
"BEM46L2",
"ABHD12A"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15868",
"gene_name": "abhydrolase domain containing 12",
"omim_gene": [
"613599"
],
"alias_name": null,
"gene_symbol": "ABHD12",
"hgnc_symbol": "ABHD12",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
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}
},
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}
}
},
"hgnc_date_symbol_changed": "2006-03-10"
},
"entity_type": "gene",
"entity_name": "ABHD12",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"PMID: 20797687",
"24697911"
],
"evidence": [
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services",
"Emory Genetics Laboratory"
],
"phenotypes": [
"hearing loss",
"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674",
"Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)",
"Hearing loss",
"Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)",
"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674",
"#612674",
"Hearing loss, sensorineural",
"Subcapsular cataracts",
"Retinitis pigmentosa",
"Optic atrophy",
"Nystagmus",
"Pes cavus Achilles tendon contracture",
"Distal muscle atrophy due to neurologic disease",
"Ataxia Spasticity Extensor plantar responses",
"Hyperreflexia Intention",
"tremor",
"Dysarthria Dysmetria Cerebellar atrophy",
"Sensorimotor peripheral neuropathy",
"Distal sensory loss",
"Demyelinating neuropathy",
"Hyporeflexia",
"Decreased nerve conduction velocities",
"Normal serum phytanic and pristanic acid"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:144",
"gene_name": "actin gamma 1",
"omim_gene": [
"102560"
],
"alias_name": null,
"gene_symbol": "ACTG1",
"hgnc_symbol": "ACTG1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:79476997-79490873",
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}
},
"GRch38": {
"90": {
"location": "17:81509971-81523847",
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}
}
},
"hgnc_date_symbol_changed": "1988-06-27"
},
"entity_type": "gene",
"entity_name": "ACTG1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"PMID:10524632",
"11474115",
"12388543",
"12519370",
"13680526",
"14684684",
"16773128",
"16950128",
"19477959",
"20847274",
"22366783",
"2837653",
"3351890",
"3472224",
"3737401",
"5654493",
"6865942",
"8941379"
],
"evidence": [
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory"
],
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"hearing loss",
"Deafness, autosomal dominant 20/26, 604717",
"Baraitser-Winter syndrome 2, 614583",
"#604717",
"Hearing loss, sensorineural, bilateral, progressive",
"Hearing loss begins with loss of high frequencies",
"Audiogram shows sloping configuration",
"Deafness, profound, by 6th decade",
"Trigonocephaly/metopic ridge",
"Prominent/full/wide cheeks",
"Pointed chin",
"Retrognathia (in some patients)",
"Abnormally shaped ears",
"Deafness (in some patients)",
"Microphthalmia (in some patients)",
"Arched eyebrows",
"Long palpebral fissures",
"Eye coloboma (in some patients)",
"Hypertelorism/telecanthus",
"Ptosis",
"Short, upturned nose",
"Large, squared nose tip",
"Prominent nasal root on profile",
"Thick/prominent/everted lower lipCleft lip/palate (in some patients)",
"Long philtrum",
"Thin upper lip",
"Large mouth",
"Short neck (in some patients)",
"Pterygium colli (in some patients)",
"Heart defect (in some patients)",
"Kyphosis/scoliosis (in some patients)",
"Pectus (in some patients)",
"Enlarged ventricles (in some patients)",
"Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)",
"Epilepsy"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZp761P0710",
"KIAA0686",
"FEB4",
"VLGR1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17416",
"gene_name": "adhesion G protein-coupled receptor V1",
"omim_gene": [
"602851"
],
"alias_name": null,
"gene_symbol": "ADGRV1",
"hgnc_symbol": "ADGRV1",
"hgnc_release": "2017-11-03T00:00:00",
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"GRch37": {
"82": {
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},
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}
}
},
"hgnc_date_symbol_changed": "2015-03-03"
},
"entity_type": "gene",
"entity_name": "ADGRV1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"10234513",
"10976914",
"11545713",
"11606593",
"12095917",
"12402266",
"14740321",
"15820310",
"18854872",
"19357116",
"19357117",
"20440071",
"22147658",
"9598305",
"9734811"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory",
"UKGTN"
],
"phenotypes": [
"hearing loss",
"Febrile seizures, familial, 4, 604352",
"Syndromic and Non Syndromic Hearing Loss",
"Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472",
"Usher syndrome, type 2C, 605472"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"AIF",
"CMTX4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8768",
"gene_name": "apoptosis inducing factor mitochondria associated 1",
"omim_gene": [
"300169"
],
"alias_name": null,
"gene_symbol": "AIFM1",
"hgnc_symbol": "AIFM1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:129263337-129299861",
"ensembl_id": "ENSG00000156709"
}
},
"GRch38": {
"90": {
"location": "X:130129362-130165887",
"ensembl_id": "ENSG00000156709"
}
}
},
"hgnc_date_symbol_changed": "2006-11-16"
},
"entity_type": "gene",
"entity_name": "AIFM1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"25986071"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Deafness, X-linked 5, OMIM:300614"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0328"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:428",
"gene_name": "ALMS1, centrosome and basal body associated protein",
"omim_gene": [
"606844"
],
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"gene_symbol": "ALMS1",
"hgnc_symbol": "ALMS1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:73612886-73837920",
"ensembl_id": "ENSG00000116127"
}
},
"GRch38": {
"90": {
"location": "2:73385758-73610793",
"ensembl_id": "ENSG00000116127"
}
}
},
"hgnc_date_symbol_changed": "1998-10-12"
},
"entity_type": "gene",
"entity_name": "ALMS1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"PMID:10598815",
"11941369",
"11941370",
"16000322",
"17206865",
"17594715",
"17850632",
"21877133",
"21901789",
"9063741",
"9205841",
"9409865",
"9921899"
],
"evidence": [
"Expert Review Green",
"Expert"
],
"phenotypes": [
"#203800: Alstrom syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"AP19",
"SIGMA1A",
"WUGSC:H_DJ0747G18.2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:559",
"gene_name": "adaptor related protein complex 1 sigma 1 subunit",
"omim_gene": [
"603531"
],
"alias_name": [
"clathrin-associated/assembly/adaptor protein, small 1 (19kD)",
"clathrin coat assembly protein AP19",
"sigma1A subunit of AP-1 clathrin adaptor complex",
"AP-1 complex subunit sigma-1A",
"sigma1A-adaptin",
"golgi adaptor HA1/AP1 adaptin sigma-1A subunit",
"clathrin assembly protein complex 1 sigma-1A small chain",
"HA1 19 kDa subunit"
],
"gene_symbol": "AP1S1",
"hgnc_symbol": "AP1S1",
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"ensembl_genes": {
"GRch37": {
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}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000106367"
}
}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
"entity_name": "AP1S1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"32306098",
"15668823",
"19057675",
"23423674",
"30244301"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Literature"
],
"phenotypes": [
"Non-syndromic congenital intestinal failure",
"MEDNIK syndrome, OMIM:609313"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"VATB",
"RTA1B",
"Vma2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:853",
"gene_name": "ATPase H+ transporting V1 subunit B1",
"omim_gene": [
"192132"
],
"alias_name": [
"Renal tubular acidosis with deafness"
],
"gene_symbol": "ATP6V1B1",
"hgnc_symbol": "ATP6V1B1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:71163012-71192536",
"ensembl_id": "ENSG00000116039"
}
},
"GRch38": {
"90": {
"location": "2:70935882-70965406",
"ensembl_id": "ENSG00000116039"
}
}
},
"hgnc_date_symbol_changed": "2002-05-10"
},
"entity_type": "gene",
"entity_name": "ATP6V1B1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"PMID:12566520",
"1373501",
"18798332",
"22509993",
"2527371",
"2869030",
"7945239",
"9916796"
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"evidence": [
"Expert Review Green",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Expert",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"hearing loss",
"Distal Renal Tubular Acidosis with Progressive Nerve Deafness",
"Renal tubular acidosis with deafness, 267300"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"VATB",
"Vma2",
"HO57"
],
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"omim_gene": [
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],
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"ensembl_genes": {
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"82": {
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"ensembl_id": "ENSG00000147416"
}
},
"GRch38": {
"90": {
"location": "8:20197367-20226819",
"ensembl_id": "ENSG00000147416"
}
}
},
"hgnc_date_symbol_changed": "2002-05-10"
},
"entity_type": "gene",
"entity_name": "ATP6V1B2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"32873933",
"28396750",
"24913193"
],
"evidence": [
"Expert Review Green",
"Literature",
"Expert Review"
],
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"Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480",
"Zimmermann-Laband syndrome 2, OMIM:616455"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"Hs.6719",
"BCS",
"h-BCS",
"BJS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1020",
"gene_name": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",
"omim_gene": [
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],
"alias_name": [
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"Bjornstad syndrome"
],
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"hgnc_symbol": "BCS1L",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
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"ensembl_id": "ENSG00000074582"
}
},
"GRch38": {
"90": {
"location": "2:218658764-218663443",
"ensembl_id": "ENSG00000074582"
}
}
},
"hgnc_date_symbol_changed": "1998-07-03"
},
"entity_type": "gene",
"entity_name": "BCS1L",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
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"11528392",
"12215968",
"12910490",
"17314340",
"17403714",
"19162478",
"19508421",
"24172246",
"7577396",
"9545407",
"9792866",
"9878253"
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"evidence": [
"Expert Review Green",
"Expert"
],
"phenotypes": [
"#124000:Mitochondrial complex III deficiency, nuclear type 1",
"#256000:Leigh syndrome",
"#262000:Bjornstad syndrome",
"#603358:GRACILE syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BART"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16512",
"gene_name": "barttin CLCNK type accessory beta subunit",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "BSND",
"hgnc_symbol": "BSND",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:55464606-55476556",
"ensembl_id": "ENSG00000162399"
}
},
"GRch38": {
"90": {
"location": "1:54998933-55010883",
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}
},
"hgnc_date_symbol_changed": "2004-01-28"
},
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"entity_name": "BSND",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
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"11734858",
"12574213",
"16849430",
"19646679",
"9463315"
],
"evidence": [
"Expert Review Green",
"Expert",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
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"#602522:Sensorineural deafness with mild renal dysfunction",
"Barttersyndrome,type4a, 602522"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
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"gene_name": "calcium binding protein 2",
"omim_gene": [
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"ensembl_genes": {
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"82": {
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}
},
"GRch38": {
"90": {
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}
},
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},
"entity_type": "gene",
"entity_name": "CABP2",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
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"11108966",
"22981119"
],
"evidence": [
"Expert Review Green",
"Expert",
"Radboud University Medical Center, Nijmegen",
"UKGTN"
],
"phenotypes": [
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],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
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"biotype": "protein_coding",
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"gene_name": "coiled-coil domain containing 50",
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"hgnc_symbol": "CCDC50",
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"ensembl_genes": {
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},
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}
},
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},
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"entity_name": "CCDC50",
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"publications": [
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"16803894",
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"27068579",
"17503326"
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"evidence": [
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"Expert",
"UKGTN",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen"
],
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"hearing loss",
"#607453:?Deafness, autosomal dominant 44"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
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"gene_name": "cell division cycle 14A",
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"25719193",
"30836598"
],
"evidence": [
"ClinGen",
"Expert Review Green"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"chromosome": "16",
"grch37_coordinates": null,
"grch38_coordinates": [
21558792,
21729102
],
"tags": []
}
]
}