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"count": 220483,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=81",
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"results": [
{
"created": "2025-12-19T15:20:14.178182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.520",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features",
"entity_name": "ISCA-37429-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:19:32.806691+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.88",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:19:32.760211+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.88",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Growth failure. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features",
"entity_name": "ISCA-37429-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:19:32.369951+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.317",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:19:32.070521+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.317",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features",
"entity_name": "ISCA-37429-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:18:52.449333+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.17",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:18:52.145756+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.17",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37425-Loss was added\nRegion: ISCA-37425-Loss was added to Overgrowth. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Loss.\nMode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Loss were set to 23190751; 19596467\nPhenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:17:58.196858+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.155",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:17:58.037230+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.155",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37425-Loss was added\nRegion: ISCA-37425-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Loss.\nMode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Loss were set to 23190751; 19596467\nPhenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:17:20.474278+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.519",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:17:20.076666+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.519",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37425-Loss was added\nRegion: ISCA-37425-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Loss.\nMode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Loss were set to 23190751; 19596467\nPhenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:15:28.692269+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.380",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37425-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:15:28.507703+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.380",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37425-Gain was added\nRegion: ISCA-37425-Gain was added to Microcephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Gain.\nMode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Gain were set to 24819041\nPhenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2025-12-19T15:14:49.406177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.518",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37425-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:14:49.026927+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.518",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37425-Gain was added\nRegion: ISCA-37425-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Gain.\nMode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Gain were set to 24819041\nPhenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2025-12-19T15:13:58.500900+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.154",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37424-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:13:58.341413+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.154",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37424-Loss was added\nRegion: ISCA-37424-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37424-Loss.\nMode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37424-Loss were set to 20345475; 25846706\nPhenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly",
"entity_name": "ISCA-37424-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:13:20.320729+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.517",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37424-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:13:19.934121+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.517",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37424-Loss was added\nRegion: ISCA-37424-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37424-Loss.\nMode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37424-Loss were set to 20345475; 25846706\nPhenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly",
"entity_name": "ISCA-37424-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:12:42.744181+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.517",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37423-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:12:42.389527+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.517",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37423-Loss was added\nRegion: ISCA-37423-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37423-Loss.\nMode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981\nPhenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay",
"entity_name": "ISCA-37423-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T15:11:53.135944+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.513",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37423-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T15:11:52.984229+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.513",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37423-Loss was added\nRegion: ISCA-37423-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37423-Loss.\nMode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981\nPhenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay",
"entity_name": "ISCA-37423-Loss",
"entity_type": "region"
},
{
"created": "2025-12-19T12:45:28.859434+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.580",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: KIF21A as Green List (high evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:45:28.848959+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.580",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:45:01.733882+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.579",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: KIF21A was added\ngene: KIF21A was added to Callosome. Sources: Literature\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700\nReview for gene: KIF21A was set to GREEN\nAdded comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964). \nSources: Literature",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:44:34.325345+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.49",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: KIF21A as Green List (high evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:44:34.317887+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.49",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:44:15.499158+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.48",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: KIF21A was added\ngene: KIF21A was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700\nReview for gene: KIF21A was set to GREEN\nAdded comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964). \nSources: Literature",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:36:31.214698+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.5",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related",
"entity_name": "KIF26B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:36:05.271888+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.94",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related",
"entity_name": "KIF26B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:35:57.000326+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.516",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1, MIM#135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:35:29.963591+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.489",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related",
"entity_name": "KIF26B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:35:24.604382+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.379",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related",
"entity_name": "KIF26B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:35:10.306599+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.515",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: KIF21A as Amber List (moderate evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:35:10.297127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.515",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:34:41.052262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3833",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related",
"entity_name": "KIF26B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:34:37.118169+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.514",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: KIF21A: Rating: AMBER; Mode of pathogenicity: None; Publications: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:29:53.830886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.488",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:29:43.707095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.487",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: KIF21A were set to PMID: 34740919",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:29:28.865286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.486",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: KIF21A as Green List (high evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:29:28.854875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.486",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:29:26.066057+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.8",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: KIF21A as Green List (high evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:29:26.042134+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.8",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:29:08.895801+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.8",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: KIF21A as Green List (high evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:29:08.884494+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.8",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:28:51.466174+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.7",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:28:31.750774+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.7",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: KIF21A were set to PMID: 34740919",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:28:14.115899+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.7",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: KIF21A as Green List (high evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:28:14.107089+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.7",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:27:30.587537+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.6",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene KIF21A from panel Arthrogryposis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T12:27:30.277588+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.4",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:26:52.315670+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.485",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene KIF21A from panel Arthrogryposis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-19T12:25:09.032079+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.3",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: KIF21A were set to PMID: 34740919",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:24:11.317904+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.514",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:23:44.990569+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.2",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: KIF21A as Green List (high evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:23:44.980537+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.2",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:23:29.352187+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.378",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:23:02.549916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.484",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21B were changed from Neurodevelopmental disorder, MONDO:0700092; Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:22:53.598885+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.1",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37921537, 34740919, 32686171; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:22:25.527618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3832",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:19:22.586509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3831",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700; Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:18:45.371281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3830",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320; 28930843; 27513105; 26190014; 24656932",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:18:11.161324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3829",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:17:15.293549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3828",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964, 34740919, 32686171; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700, Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:11:40.516707+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.54",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related",
"entity_name": "KIF17",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:10:42.757057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3828",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related",
"entity_name": "KIF17",
"entity_type": "gene"
},
{
"created": "2025-12-19T12:06:36.868868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3827",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1217 were changed from Vertebral anomalies, syndromic and non-syndromic to Skeletal system disorder MONDO:0005172, KIAA1217-related",
"entity_name": "KIAA1217",
"entity_type": "gene"
},
{
"created": "2025-12-19T11:20:27.618086+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.310",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DDX11 as Green List (high evidence)",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-12-19T11:20:27.608001+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.310",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-12-19T11:19:52.588576+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.309",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DDX11 was added\ngene: DDX11 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX11 were set to PMID: 31169992\nPhenotypes for gene: DDX11 were set to Warsaw breakage syndrome - MIM#613398\nReview for gene: DDX11 was set to GREEN\nAdded comment: Sensorineural hearing loss is part of the phenotypic spectrum \nSources: Literature",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:09:43.917968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3826",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KHDRBS1 were changed from Premature ovarian failure to Premature ovarian failure MONDO:0005387, KHDRBS1-related",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:09:18.204530+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.392",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KHDRBS1 were changed from Premature ovarian failure to Premature ovarian failure MONDO:0005387, KHDRBS1-related",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:08:13.254196+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.406",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KDM7A were changed from Cerebral palsy to Cerebral palsy MONDO:0006497, KDM7A-related",
"entity_name": "KDM7A",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:07:21.371699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3825",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KDM7A were changed from Cerebral palsy to Cerebral palsy MONDO:0006497, KDM7A-related",
"entity_name": "KDM7A",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:06:27.487538+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.513",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:05:58.264766+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.316",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:05:16.141812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3824",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:03:44.619428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3823",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCNT1 were changed from Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Epileptic encephalopathy, early infantile, 14, MIM# 614959 to Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Developmental and epileptic encephalopathy 14 MIM# 614959",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2025-12-18T17:01:41.979275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3822",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ2 were changed from Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 to Developmental and epileptic encephalopathy 7 MIM#613720; Seizures, benign neonatal, 1, MIM#121200; Myokymia, MIM#121200",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:59:12.062336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3821",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: KCNMA1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012276; Mode of inheritance: None",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:58:27.903384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3821",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729 to Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012276; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:55:31.458201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3820",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ8 were changed from Cantú Syndrome to Brugada syndrome 1 MONDO:0011001, KCNJ8-related; Hypertrichotic osteochondrodysplasia Cantu type MONDO:0009406, KCNJ8-related",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:31:22.159666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3819",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH1 were changed from Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS to KCNH1 associated disorder MONDO:0100485; Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:30:52.264264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3818",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: KCNH1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: KCNH1 associated disorder MONDO:0100485; Mode of inheritance: None",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:29:15.565277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3818",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE5 were changed from Atrial fibrillation; Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263, KCNE5-related; Atrial fibrillation MONDO:0004981, KCNE5-related",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:25:40.442360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3817",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE3 were changed from Brugada syndrome to Brugada syndrome 6 MIM#613119",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:16:08.838140+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.315",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCND2 were changed from Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092, KCND2-related",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:15:03.943379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3816",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCND2 were changed from Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092, KCND2-related",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:13:27.526731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3815",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KATNAL2 were changed from Oligo-astheno-teratozoospermia; Autism to Male infertility MONDO:0005372, KATNAL2-related; Complex neurodevelopmental disorder MONDO:0100038, KATNAL2-related",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:10:23.558172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3814",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "commented on gene: KATNAL2",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2025-12-18T16:03:47.085299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3814",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KANK4 were changed from Nephrotic syndrome to Nephrotic syndrome MONDO:0005377, KANK4-related",
"entity_name": "KANK4",
"entity_type": "gene"
},
{
"created": "2025-12-18T15:35:52.720392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3813",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KALRN were changed from Susceptibility to coronary heart disease; Intellectual disability to Coronary artery disorder MONDO:0005010, KALRN-related; Intellectual disability (MONDO:0001071), KALRN-related",
"entity_name": "KALRN",
"entity_type": "gene"
},
{
"created": "2025-12-18T15:25:43.318283+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.1",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: JAM2 were changed from Primary brain calcification to Basal ganglia calcification, idiopathic, 8, autosomal recessive MIM#618824",
"entity_name": "JAM2",
"entity_type": "gene"
},
{
"created": "2025-12-18T15:24:56.321884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3812",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: JAM2 were changed from Primary brain calcification to Basal ganglia calcification, idiopathic, 8, autosomal recessive MIM#618824",
"entity_name": "JAM2",
"entity_type": "gene"
},
{
"created": "2025-12-18T15:23:28.978640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3811",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: JAG1 were changed from Alagille syndrome 1, MIM# 118450; Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574 to Alagille syndrome due to a JAG1 point mutation MONDO:0016862; Charcot-Marie-Tooth disease, axonal, type 2HH MIM#619574",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-12-18T15:23:06.629074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3810",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: JAG1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome due to a JAG1 point mutation MONDO:0016862, Charcot-Marie-Tooth disease, axonal, type 2HH MIM#619574; Mode of inheritance: None",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-12-18T15:20:37.213425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3810",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: ITSN2 were changed from Nephrotic syndrome to Nephrotic syndrome MONDO:0005377, ITSN2-related",
"entity_name": "ITSN2",
"entity_type": "gene"
},
{
"created": "2025-12-18T15:10:39.328144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3809",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: ITGB4 were set to 11328943; 9670011; 33225458; 30079450; 29380424; 29198538; 28557647",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2025-12-18T15:10:06.842487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3808",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: Updating OMIMs, 2 listed below are now attached to different genes. Both current OMIMs are recessive only; to: Updating OMIMs, 2 listed below are now attached to different genes. Both current OMIMs are recessive only\r\n\r\nDominant reports appear to be rare, PMID: 35822394, 26817667, 36813478",
"entity_name": "ITGB4",
"entity_type": "gene"
}
]
}