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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=794",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=792",
"results": [
{
"created": "2022-07-20T12:49:37.304435+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:49:18.369898+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas; Epilepsy; Parkinsonism; Ataxia; Peripheral neuropathy; OMIM 213700 to Cerebrotendinous xanthomatosis, MIM#\t213700; Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas; Epilepsy; Parkinsonism; Ataxia; Peripheral neuropathy",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:47:45.229356+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:47:45.211611+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:46:26.749419+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDC as ready",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:46:26.733104+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:46:23.484661+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency (DYT-DDC); Infantile-onset parkinsonism & dystonia; Bulbar dysfunction; Oculogyric crisis; Autonomic dysfunction; Intellectual disability; OMIM 608603 to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Infantile-onset parkinsonism & dystonia; Bulbar dysfunction; Oculogyric crisis; Autonomic dysfunction; Intellectual disability",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:34:10.839608+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDC as Amber List (moderate evidence)",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:34:10.828328+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:33:38.631719+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-07-20T12:17:18.350143+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: RED; Mode of pathogenicity: None; Publications: 16960814, 18094730; Phenotypes: MIRAGE syndrome (MIM#617053), Monosomy 7 myelodysplasia and leukemia syndrome 2 (MIM#619041), Tumoral calcinosis, familial, normophosphatemic (MIM#610455); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-07-20T11:54:39.114686+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29178637, 30740726, 12815595; Phenotypes: Glutamate formiminotransferase deficiency (MIM#229100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-07-20T11:31:02.812655+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: KRT85: Rating: AMBER; Mode of pathogenicity: None; Publications: 16525032, 19865094, 31273852; Phenotypes: Ectodermal dysplasia 4, hair/nail type (MIM#602032); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KRT85",
"entity_type": "gene"
},
{
"created": "2022-07-20T11:19:22.993097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.163",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: CHD5 were changed from Intellectual disability; Epilepsy to Parenti-Mignot neurodevelopmental syndrome MIM#619873",
"entity_name": "CHD5",
"entity_type": "gene"
},
{
"created": "2022-07-20T11:19:04.769889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.162",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33944996; Phenotypes: Parenti-Mignot neurodevelopmental syndrome MIM#619873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CHD5",
"entity_type": "gene"
},
{
"created": "2022-07-20T11:03:14.318533+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26996199, 30046960; Phenotypes: Combined cellular and humoral immune defects with granulomas (MIM#233650), Omenn syndrome (MIM#603554), Severe combined immunodeficiency, B cell-negative (MIM#601457); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:57:16.543374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.162",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:54:51.666584+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.182",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:54:31.480719+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.131",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:52:00.997638+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.47",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: PPP1R13L: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related disorder, Dilated cardiomyopathy, onset in infancy, Cleft lip and palate",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:32:48.123645+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHDDS as ready",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:32:48.114167+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:32:45.849440+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHDDS were changed from Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability; OMIM 617836 to Developmental delay and seizures with or without movement abnormalities, MIM# 617836; Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:32:20.817029+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHDDS were set to PMID: 34837344, 29100083",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:31:47.774424+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHDDS as Amber List (moderate evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:31:47.762623+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:31:16.183357+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: None; Publications: 34837344; Phenotypes: Developmental delay and seizures with or without movement abnormalities, MIM# 617836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:27:38.236905+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK2 as ready",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:27:38.224461+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:24:33.481893+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2AK2 were changed from Neurodevelopmental Syndrome; Developmental delays; Ataxia; Parkinsonism; White matter alterations; OMIM 618877 to Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877; Neurodevelopmental Syndrome; Developmental delays; Ataxia; Parkinsonism; White matter alterations",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:23:43.087948+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2AK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:22:57.290999+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2AK2 as Green List (high evidence)",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:22:57.277254+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:22:24.843066+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:20:15.536385+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPM2A as ready",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:20:15.518239+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epm2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:20:12.492947+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPM2A were changed from Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780 to Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780; Progressive Myoclonic Epilepsy; Parkinsonism",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:19:25.969624+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPM2A as Amber List (moderate evidence)",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:19:25.955466+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epm2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:18:54.049493+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:16:27.012842+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXG1 as Green List (high evidence)",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:16:26.998347+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Green List (High Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:15:50.137306+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXG1 as ready",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:15:50.127037+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxg1 has been removed from the panel.",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:15:46.581874+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXG1 were changed from Developmental and Epileptic Encephalopathy; Dystonia,; Athetosis; Parkinsonism; Stereotypies; OMIM 613454 to Rett syndrome, congenital variant, MIM#\t613454; Developmental and Epileptic Encephalopathy; Dystonia,; Athetosis; Parkinsonism; Stereotypies",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:12:33.959295+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Reported in Type 3.; to: Parkinsonism reported in Type 3.",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:12:21.362700+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLB1 as ready",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:12:21.349039+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:12:12.475139+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from GM1 Gangliosidosis; Parkinsonism; OMIM 230650 to GM1-gangliosidosis, type III , MIM#230650; Parkinsonism",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:11:18.800396+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLB1 as Green List (high evidence)",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:11:18.784164+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:10:47.106810+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1-gangliosidosis, type III , MIM#230650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:06:12.114673+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS3 as ready",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:06:12.104952+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Green List (High Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:06:07.908752+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GINS3 as Green List (high evidence)",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:06:07.900394+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Green List (High Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:05:42.188867+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GINS3 was added\ngene: GINS3 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS3 were set to 35603789\nPhenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related\nReview for gene: GINS3 was set to GREEN\nAdded comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model. \nSources: Literature",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:04:31.755288+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: CARD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 30136218; Phenotypes: Immunodeficiency 103, susceptibility to fungal infection (MIM#212050); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:03:40.157898+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS3 as ready",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:03:40.146468+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Green List (High Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:03:22.242046+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GINS3 as Green List (high evidence)",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:03:22.230875+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Green List (High Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:02:56.924574+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GINS3 was added\ngene: GINS3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS3 were set to 35603789\nPhenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related\nReview for gene: GINS3 was set to GREEN\nAdded comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model. \nSources: Literature",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:01:46.191611+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GINS3 was added\ngene: GINS3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS3 were set to 35603789\nPhenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related\nReview for gene: GINS3 was set to GREEN\nAdded comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model. \nSources: Literature",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:00:40.193237+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS3 as ready",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:00:40.169732+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Green List (High Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:00:31.237189+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GINS3 as Green List (high evidence)",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:00:31.229272+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Green List (High Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:00:22.828176+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GINS3 was added\ngene: GINS3 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS3 were set to 35603789\nPhenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related\nReview for gene: GINS3 was set to GREEN\nAdded comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model. \nSources: Literature",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:00:06.685895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS3 as ready",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T10:00:06.667160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Green List (High Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T09:59:38.732428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GINS3 as Green List (high evidence)",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T09:59:38.715114+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Green List (High Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T09:58:57.473911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GINS3 was added\ngene: GINS3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS3 were set to 35603789\nPhenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related\nReview for gene: GINS3 was set to GREEN\nAdded comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model. \nSources: Literature",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-20T09:40:59.239022+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: 2 AR conditions associated with PLG; Type I plasminogen deficiency and type II plasminogen deficiency, also known as 'dysplasminogenemia'. Patients with type II deficiency are usually asymptomatic (OMIM). The most common clinical manifestation is ligneous conjunctivitis. Other neurological manifestations such as hydrocephalus and Dandy Walker malformation can also be present in some patients \r\n\r\nPMID: 21174000: Phenotype shows inter- and intra- familial variability. Residual PLG activity does not always correlate with clinical severity\r\n\r\nAR condition can be associated with severe, early onset presentation; to: 2 AR conditions associated with PLG; Type I plasminogen deficiency and type II plasminogen deficiency, also known as 'dysplasminogenemia'. Patients with type II deficiency are usually asymptomatic (OMIM). The most common clinical manifestation is ligneous conjunctivitis. Other neurological manifestations such as hydrocephalus and Dandy Walker malformation can also be present in some patients \r\n\r\nPMID: 21174000: Phenotype shows inter- and intra- familial variability. Residual PLG activity does not always correlate with clinical severity\r\n\r\nAR condition can be associated with severe, early onset presentation",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2022-07-20T09:40:26.870215+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 9242524, 35244080; Phenotypes: Angioedema, hereditary, 4 (MIM#619360), Dysplasminogenemia (MIM#217090), Plasminogen deficiency, type I (MIM#217090); Mode of inheritance: None",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2022-07-20T08:51:02.346182+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: GYS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18341095, 32395408; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-07-20T08:41:10.127381+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 30239779, 8816708, 12845552, 16488608, 26310628, 8630052; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate D (MIM#607791), Charcot-Marie-Tooth disease, type 1B (MIM#118200), Charcot-Marie-Tooth disease, type 2I (MIM#607677), Charcot-Marie-Tooth disease, type 2J (MIM#607736), Dejerine-Sottas disease (MIM#145900), Hypomyelinating neuropathy, congenital, 2 (MIM#618184), Roussy-Levy syndrome (MIM#180800); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-07-19T20:56:25.417066+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: KIAA1161 was added\ngene: KIAA1161 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1161 were set to PMID: 32211515\nPhenotypes for gene: KIAA1161 were set to Primary familial brain calcification; Atypical parkinsonism; Supranuclear gaze palsy; OMIM 618317\nReview for gene: KIAA1161 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2022-07-19T20:51:29.242060+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "reviewed gene: C9orf3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "C9orf3",
"entity_type": "gene"
},
{
"created": "2022-07-19T20:51:00.665780+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: NHLRC1 was added\ngene: NHLRC1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHLRC1 were set to PMID: 22425593\nPhenotypes for gene: NHLRC1 were set to Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780\nReview for gene: NHLRC1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2022-07-19T20:46:13.185828+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: C9orf3 was added\ngene: C9orf3 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C9orf3 were set to PMID: 35306330\nPhenotypes for gene: C9orf3 were set to Dystonia-31; Childhood/Adolescence onset generalised dystonia; Dystonia parkinsonism; Zech-Boesch Syndrome; OMIM 619565",
"entity_name": "C9orf3",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:32:38.117850+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HEXA: Changed rating: RED; Changed phenotypes: Tay-Sachs disease, MIM# 272800; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:32:12.452855+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:32:12.434370+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Red List (Low Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:32:07.803512+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEXA as Red List (low evidence)",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:32:07.790907+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Red List (Low Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:30:51.412652+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEXA as Amber List (moderate evidence)",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:30:51.401881+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:30:18.245746+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:28:58.286047+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JPH3 as ready",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:28:58.277244+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph3 has been removed from the panel.",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:28:42.555941+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: JPH3.",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:28:34.255763+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: JPH3",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:23:50.873725+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC2 as ready",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:23:50.861893+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc2 has been classified as Green List (High Evidence).",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:23:43.362518+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC2 were changed from Niemann Pick C2; Parkinsonism; OMIM 607625 to Niemann Pick C2, OMIM 607625; Parkinsonism",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:23:06.547284+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPC2 as Green List (high evidence)",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:23:06.536097+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc2 has been classified as Green List (High Evidence).",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-07-19T19:22:06.616340+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
}
]
}