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{
"count": 220505,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=108",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=106",
"results": [
{
"created": "2025-11-29T18:14:59.943587+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELOVL4 was added\ngene: ELOVL4 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190; Spinocerebellar ataxia 34, 133190",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2025-11-29T18:11:48.870614+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene EEF2 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T18:11:48.665177+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EEF2 was added\ngene: EEF2 was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital,GeneReviews,Victorian Clinical Genetics Services\nMode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EEF2 were set to 15732118; 23001565\nPhenotypes for gene: EEF2 were set to ?Spinocerebellar ataxia 26",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2025-11-29T18:05:33.429384+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.85",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene DNMT1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T18:05:33.234678+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNMT1 was added\ngene: DNMT1 was added to Ataxia. Sources: Literature,ClinGen,Expert Review Green\nMode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNMT1 were set to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424\nPhenotypes for gene: DNMT1 were set to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2025-11-29T18:02:42.827751+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.84",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene DNAJC5 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T18:02:42.646054+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAJC5 was added\ngene: DNAJC5 was added to Ataxia. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:52:08.569644+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.83",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CSF1R from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:52:08.327280+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CSF1R was added\ngene: CSF1R was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CSF1R were set to 24198292; 25563800; 25935893\nPhenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820; ataxia",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:45:26.051576+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CP were set to ",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:44:06.164559+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.81",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CP from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:44:05.939585+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CP was added\ngene: CP was added to Ataxia. Sources: Royal Melbourne Hospital,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CP were set to Aceruloplasminemia, 604290; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:41:17.452401+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.80",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CLCN2 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:41:17.239440+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLCN2 was added\ngene: CLCN2 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:18:10.084400+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.79",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CHCHD10 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:18:09.880311+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHCHD10 was added\ngene: CHCHD10 was added to Ataxia. Sources: Expert Review Red,Literature\nMode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHCHD10 were set to 24934289\nPhenotypes for gene: CHCHD10 were set to autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:16:29.303819+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.78",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CCDC88C from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:16:29.062678+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCDC88C was added\ngene: CCDC88C was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital,GeneReviews,Victorian Clinical Genetics Services\nMode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CCDC88C were set to 25062847; 30398676\nPhenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia; ?Spinocerebellar ataxia 40, 616053",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:14:47.432378+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.77",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CAPN1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:14:47.236795+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAPN1 was added\ngene: CAPN1 was added to Ataxia. Sources: Expert Review Green,Expert list,Expert Review Amber,Expert list\nMode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPN1 were set to 27320912; 29678961; 30572172; 31023339; 31104286\nPhenotypes for gene: CAPN1 were set to Spastic paraplegia 76, autosomal recessive, 616907; MONDO:0014827",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:13:36.647530+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.76",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene BCKDHB from panel Episodic Ataxia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:13:36.367087+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to Ataxia. Sources: Expert Review Green,Expert list\ntreatable tags were added to gene: BCKDHB.\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCKDHB were set to PMID 32151765\nPhenotypes for gene: BCKDHB were set to Episodic ataxia during metabolic crises; paroxysmal nonkinesigenic dyskinesia",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:11:38.427201+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.75",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CACNB4 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:11:38.213784+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNB4 was added\ngene: CACNB4 was added to Ataxia. Sources: Expert Review Red,Expert list,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nMode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNB4 were set to 10762541; 27003325; 9628818\nPhenotypes for gene: CACNB4 were set to Episodic ataxia type 5, 613855",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:10:52.633291+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.74",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ATP7B from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:10:52.422977+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP7B was added\ngene: ATP7B was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease 277900; Wilson disease, 277900",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:09:50.720181+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.73",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Ataxia - paediatric to Ataxia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:07:36.067945+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.72",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ATP1A2 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:07:35.844258+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP1A2 was added\ngene: ATP1A2 was added to Ataxia - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP1A2 were set to Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:06:39.336330+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.71",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ATP13A2 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:06:39.131101+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Ataxia - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP13A2 were set to 21362476; 21696388; 31588715; 32559632; 33033738; 33091395; 34405108\nPhenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2025-11-29T17:03:28.714638+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.70",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ABCD1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T17:03:28.515403+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Ataxia - paediatric. Sources: Expert Review Green,Expert list,Royal Melbourne Hospital\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:28:49.006003+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLA2 as ready",
"entity_name": "POLA2",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:28:48.986555+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pola2 has been classified as Green List (High Evidence).",
"entity_name": "POLA2",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:28:30.779584+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene POLA2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-28T18:28:30.549935+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLA2 was added\ngene: POLA2 was added to Brain Calcification. Sources: Expert Review Green,Literature\nMode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLA2 were set to 39616267\nPhenotypes for gene: POLA2 were set to Telomere biology syndrome MONDO:0100137",
"entity_name": "POLA2",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:14:40.506707+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUDT2 as ready",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:14:40.497585+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Green List (High Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:03:50.263031+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NUDT2 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-28T18:03:50.013822+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUDT2 was added\ngene: NUDT2 was added to Brain Calcification. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDT2 were set to 27431290; 30059600; 33058507\nPhenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:02:42.731741+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUDT2 were changed from Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:02:04.038700+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUDT2: Added comment: PMID 38141063 reports 18 individuals from 10 unrelated families with biallelic loss‑of‑function NUDT2 variants presenting with early‑onset neurodevelopmental disorder characterized by hypotonia, motor delay, gait disturbance, mild intellectual disability, peripheral neuropathy, corpus callosum abnormalities and progressive basal ganglia signal abnormalities.; Changed publications: 27431290, 30059600, 33058507, 38141063",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2025-11-28T18:00:56.195920+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUDT2: Changed phenotypes: Intellectual developmental disorder with or without peripheral neuropathy MIM#619844",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:57:21.942729+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH1 as ready",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:57:21.935771+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:56:54.574565+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NOTCH1 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-28T17:56:54.310131+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH1 was added\ngene: NOTCH1 was added to Brain Calcification. Sources: Expert Review Green,Literature\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH1 were set to 35947102\nPhenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related\nMode of pathogenicity for gene: NOTCH1 was set to Other",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:45:29.818340+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:45:29.810788+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:45:14.571108+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KARS were changed from Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly to Leukoencephalopathy with or without deafness (LEPID), MIM#619147",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:44:02.418481+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene KARS from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-28T17:44:02.022941+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to Brain Calcification. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KARS were set to 26741492; 31618474; 28887846; 25330800; 29615062; 30252186; 28496994\nPhenotypes for gene: KARS were set to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:42:47.837230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Sources: Expert list; to: Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is a complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most individuals present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anaemia, and hepatic enlargement or abnormal liver enzymes.\r\n\r\nBrain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy.\r\n\r\nCalcifications of the brain and spinal cord are a feature.",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:39:37.834269+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:39:37.820017+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:39:35.191119+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KARS were changed from to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:38:57.668562+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KARS were set to ",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:38:28.766306+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:36:20.631691+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF8 as ready",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:36:20.623210+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:36:12.955191+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF8 as Amber List (moderate evidence)",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:36:12.948845+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:35:26.344311+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF8 was added\ngene: IRF8 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IRF8 were set to 29128673; 35338423\nPhenotypes for gene: IRF8 were set to Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM#\t226990\nReview for gene: IRF8 was set to AMBER\nAdded comment: PMID 29128673 and PMID 35338423 report 2 individuals from 2 unrelated families with biallelic loss-of-function IRF8 variants (missense and truncating) presenting with autosomal recessive IRF8 deficiency characterized by intracerebral calcifications, dendritic cell deficiency, monocytopenia, pulmonary alveolar proteinosis, and severe early‑onset infections. \nSources: Literature",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:32:20.661455+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLVCR2 as ready",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:32:20.647884+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr2 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:31:53.914206+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF1R as ready",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:31:53.903491+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Green List (High Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:31:30.079520+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A2 as ready",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:31:30.065363+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:31:27.640612+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2025-11-28T17:30:49.772294+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene FLVCR2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-28T17:30:49.538903+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLVCR2 was added\ngene: FLVCR2 was added to Brain Calcification. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR2 were set to 30712878; 20206334; 20518025; 20690116; 25677735\nPhenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:47:37.501870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3726",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA4 were changed from Microtia-Atresia; CAKUT to Microtia with meatal atresia and conductive deafness MONDO:0009634, HOXA4-related",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:44:02.203214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3725",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPD were changed from Neurodevelopmental disorder to Complex neurodevelopmental disorder MONDO:0100038, HNRNPD-related",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:43:53.579030+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.468",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPD were changed from Neurodevelopmental disorder to Complex neurodevelopmental disorder MONDO:0100038, HNRNPD-related",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:36:35.362042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3724",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "commented on gene: HMBS",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:28:42.194639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3724",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HIRA were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, HIRA-related",
"entity_name": "HIRA",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:28:04.404599+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.467",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983",
"entity_name": "HID1",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:27:55.516726+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.80",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983",
"entity_name": "HID1",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:27:01.782982+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.574",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983",
"entity_name": "HID1",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:26:40.056234+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.295",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983",
"entity_name": "HID1",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:25:51.812152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3723",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism\tMIM#619983",
"entity_name": "HID1",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:24:28.025190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3722",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HIBADH were changed from Organic aciduria to 3-hydroxyisobutyric aciduria MONDO:0009371, HIBADH-related",
"entity_name": "HIBADH",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:24:15.955614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3721",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: HIBADH as Green List (high evidence)",
"entity_name": "HIBADH",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:24:15.944249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3721",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: hibadh has been classified as Green List (High Evidence).",
"entity_name": "HIBADH",
"entity_type": "gene"
},
{
"created": "2025-11-28T16:24:01.059841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3720",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: HIBADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 35174513, 34176136; Phenotypes: 3-hydroxyisobutyric aciduria MONDO:0009371, HIBADH-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIBADH",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:56:44.756141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3720",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HELQ were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, HELQ-related",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:56:32.675996+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.391",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HELQ were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, HELQ-related",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:55:34.181630+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.466",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related",
"entity_name": "HEATR5B",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:55:10.347633+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.294",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related",
"entity_name": "HEATR5B",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:54:47.578822+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.92",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related",
"entity_name": "HEATR5B",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:54:05.795256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3719",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related",
"entity_name": "HEATR5B",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:50:06.802589+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.465",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797; Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:49:27.143249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3718",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome to Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797; Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
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"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "commented on gene: HCN1",
"entity_name": "HCN1",
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},
{
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"panel_id": 250,
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"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:09:36.887007+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.599",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:09:01.534770+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.293",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2025-11-28T15:08:15.191759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3717",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721",
"entity_name": "H3F3B",
"entity_type": "gene"
}
]
}