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"id": 724,
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},
{
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"NPHP11"
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"Meckel-Gruber syndrome",
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},
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],
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},
{
"tags": [],
"evidence": [
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},
{
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},
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},
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{
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},
{
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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},
{
"tags": [],
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}
},
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"echogenic kidneys",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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],
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},
{
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"hgnc_id": "HGNC:29068",
"gene_name": "KIAA0556",
"omim_gene": [
"616650"
],
"alias_name": null,
"gene_symbol": "KIAA0556",
"hgnc_symbol": "KIAA0556",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:27561454-27791690",
"ensembl_id": "ENSG00000047578"
}
},
"GRch38": {
"90": {
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}
}
},
"hgnc_date_symbol_changed": "2006-08-25"
},
"penetrance": null,
"phenotypes": [
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],
"transcript": null,
"entity_name": "KIAA0556",
"entity_type": "gene",
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"KIAA0042"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19181",
"gene_name": "kinesin family member 14",
"omim_gene": [
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],
"alias_name": null,
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"hgnc_symbol": "KIF14",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:200520628-200589862",
"ensembl_id": "ENSG00000118193"
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},
"GRch38": {
"90": {
"location": "1:200551497-200620734",
"ensembl_id": "ENSG00000118193"
}
}
},
"hgnc_date_symbol_changed": "2002-09-12"
},
"penetrance": null,
"phenotypes": [
"?Meckel syndrome 12, 616258",
"complex brain malformation",
"?Meckel syndrome 12",
"intrauterine growth restriction (IUGR)",
"microcephaly",
"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome",
"genitourinary malformation",
"renal cystic dysplasia/agenesis"
],
"transcript": null,
"entity_name": "KIF14",
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"publications": [
"24128419"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"JBTS22"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8788",
"gene_name": "phosphodiesterase 6D",
"omim_gene": [
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"alias_name": null,
"gene_symbol": "PDE6D",
"hgnc_symbol": "PDE6D",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:232597135-232650982",
"ensembl_id": "ENSG00000156973"
}
},
"GRch38": {
"90": {
"location": "2:231732425-231786272",
"ensembl_id": "ENSG00000156973"
}
}
},
"hgnc_date_symbol_changed": "1997-11-03"
},
"penetrance": null,
"phenotypes": [
"?Joubert syndrome 22",
"Joubert Syndrome and Senior-Loken Syndrome 24 gene panel",
"?Joubert syndrome 22, 615665"
],
"transcript": null,
"entity_name": "PDE6D",
"entity_type": "gene",
"publications": [
"24166846"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"CEP90"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23352",
"gene_name": "progesterone immunomodulatory binding factor 1",
"omim_gene": [
"607532"
],
"alias_name": [
"progesterone-induced blocking factor 1"
],
"gene_symbol": "PIBF1",
"hgnc_symbol": "PIBF1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:73356197-73590591",
"ensembl_id": "ENSG00000083535"
}
},
"GRch38": {
"90": {
"location": "13:72782059-73016461",
"ensembl_id": "ENSG00000083535"
}
}
},
"hgnc_date_symbol_changed": "2007-10-17"
},
"penetrance": null,
"phenotypes": [
"Joubert syndrome",
"ataxia",
"vermis hypoplasia",
"developmental delay",
"thick superior cerebellar peduncles",
"superior cerebellar dysplasia"
],
"transcript": null,
"entity_name": "PIBF1",
"entity_type": "gene",
"publications": [
"26167768"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"FLJ90013"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26887",
"gene_name": "transmembrane anterior posterior transformation 1",
"omim_gene": [
"612758"
],
"alias_name": null,
"gene_symbol": "TAPT1",
"hgnc_symbol": "TAPT1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:16162128-16229033",
"ensembl_id": "ENSG00000169762"
}
},
"GRch38": {
"90": {
"location": "4:16160505-16227410",
"ensembl_id": "ENSG00000169762"
}
}
},
"hgnc_date_symbol_changed": "2007-02-02"
},
"penetrance": null,
"phenotypes": [
"Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897"
],
"transcript": null,
"entity_name": "TAPT1",
"entity_type": "gene",
"publications": [
"26365339"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"FLJ30899",
"dJ310J6.1",
"FLJ34235",
"bA57L9.1",
"BROMI"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:21485",
"gene_name": "TBC1 domain family member 32",
"omim_gene": [
"615867"
],
"alias_name": [
"broad-minded homolog"
],
"gene_symbol": "TBC1D32",
"hgnc_symbol": "TBC1D32",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:121400640-121655891",
"ensembl_id": "ENSG00000146350"
}
},
"GRch38": {
"90": {
"location": "6:121079494-121334745",
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}
}
},
"hgnc_date_symbol_changed": "2013-07-10"
},
"penetrance": null,
"phenotypes": [
"No OMIM phenotype",
"Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)"
],
"transcript": null,
"entity_name": "TBC1D32",
"entity_type": "gene",
"publications": [],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red"
],
"gene_data": {
"alias": [
"DIC3",
"FLJ30067",
"NYD-SP29"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30711",
"gene_name": "WD repeat domain 63",
"omim_gene": null,
"alias_name": null,
"gene_symbol": "WDR63",
"hgnc_symbol": "WDR63",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:85464830-85598821",
"ensembl_id": "ENSG00000162643"
}
},
"GRch38": {
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"ensembl_id": "ENSG00000162643"
}
}
},
"hgnc_date_symbol_changed": "2013-02-19"
},
"penetrance": null,
"phenotypes": [
"occipital encephalocele and inconsistent brain lobulation",
"ciliopathy-like disorder"
],
"transcript": null,
"entity_name": "WDR63",
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"confidence_level": "1",
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"mode_of_pathogenicity": ""
}
],
"stats": {
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"number_of_genes": 57,
"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": "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."
}
],
"status": "public",
"hash_id": null,
"regions": [],
"version": "1.5",
"disease_group": "Ciliopathies",
"version_created": "2020-03-04T11:46:03.011574Z",
"disease_sub_group": "Congenital malformations caused by ciliopathies",
"relevant_disorders": [],
"signed_off": "2020-03-04"
}