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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=286",
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"results": [
{
"created": "2025-03-14T15:55:56.175563+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORD118.",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:55:36.184912+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:55:24.709742+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:55:10.961879+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:54:56.774284+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:54:43.550449+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:54:28.283180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:54:14.556304+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:54:01.727480+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU7-1.",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:53:40.629371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651 to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:53:29.879031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:53:10.629307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960 to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:52:39.853605+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:52:21.254096+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:51:41.997941+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:51:25.731929+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:51:08.622131+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:50:40.300968+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:50:25.351148+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:50:09.502288+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:49:53.504296+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:49:37.385925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:49:21.176153+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:49:21.166062+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:49:18.985149+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:48:56.607770+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RNU4ATAC was changed from to Other",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:48:34.188955+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:48:14.666682+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:47:51.842775+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4-2.",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:47:32.987370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4-2.",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:47:09.642321+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU12.",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:46:50.946374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU12.",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:46:35.050074+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU12.",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:46:17.320155+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: DROSHA.",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:46:02.006510+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: DROSHA.",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:45:47.951612+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: DROSHA.",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:45:31.451317+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: DROSHA.",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:42:46.064380+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEG3 as ready",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:42:46.051925+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meg3 has been classified as Green List (High Evidence).",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:41:49.729360+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEG3 as Green List (high evidence)",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:41:49.719359+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meg3 has been classified as Green List (High Evidence).",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:41:26.186797+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEG3 was added\ngene: MEG3 was added to Skeletal dysplasia. Sources: Expert list\nSV/CNV, non-coding gene tags were added to gene: MEG3.\nMode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313\nPhenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149\nReview for gene: MEG3 was set to GREEN\nAdded comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. Bell-shaped thorax and multiple other skeletal anomalies are a feature. \nSources: Expert list",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:39:24.959037+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEG3 as ready",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:39:24.951860+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meg3 has been classified as Green List (High Evidence).",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:39:19.004518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEG3 as Green List (high evidence)",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:39:18.990506+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meg3 has been classified as Green List (High Evidence).",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:38:54.433272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEG3 was added\ngene: MEG3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313\nPhenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149\nReview for gene: MEG3 was set to GREEN\nAdded comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. \nSources: Expert list",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:37:32.054399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEG3 as ready",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:37:32.047577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meg3 has been classified as Green List (High Evidence).",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:37:24.746162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEG3 as Green List (high evidence)",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:37:24.735433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meg3 has been classified as Green List (High Evidence).",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:37:09.774387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEG3 was added\ngene: MEG3 was added to Mendeliome. Sources: Literature\nSV/CNV, non-coding gene tags were added to gene: MEG3.\nMode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313\nPhenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149\nReview for gene: MEG3 was set to GREEN\nAdded comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. \nSources: Literature",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:35:18.858553+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEG3 as ready",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:35:18.848434+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meg3 has been classified as Green List (High Evidence).",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:35:13.938513+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MEG3.",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:35:06.267919+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEG3 as Green List (high evidence)",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:35:06.260806+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meg3 has been classified as Green List (High Evidence).",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:34:26.136046+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEG3 was added\ngene: MEG3 was added to Imprinting disorders. Sources: Expert list\nnon-coding gene tags were added to gene: MEG3.\nMode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313\nPhenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM#\t608149\nReview for gene: MEG3 was set to GREEN\nAdded comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. \nSources: Expert list",
"entity_name": "MEG3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:28:03.843150+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: H19.",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:27:47.266858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: H19.",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:27:30.854224+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: H19.",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:27:12.049148+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: H19.",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:26:55.144600+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: H19.",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:26:35.870444+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: H19.",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:26:17.635424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: H19.",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:19:08.955753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP54 as Amber List (moderate evidence)",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:19:08.949100+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap54 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:18:54.014130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP54: Added comment: PMID 37725231: three probands from two families with PCD, supportive mouse models x2.; Changed rating: AMBER; Changed publications: 26224312, 36593121, 37725231; Changed phenotypes: Spermatogenic failure 98, MIM# 621124, HCiliary dyskinesia, primary, 54, MIM# 621125",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:12:34.513927+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP54 were changed from Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Ciliary dyskinesia, primary, 54, MIM# 621125",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:12:11.629589+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP54 were set to PMID: 26224312; 36593121",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:11:47.817134+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP54 as Amber List (moderate evidence)",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:11:47.810485+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap54 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:10:53.447183+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP54: Added comment: PMID 37725231: three probands from two families with PCD, supportive mouse models x2.; Changed rating: AMBER; Changed publications: 36593121, 37725231; Changed phenotypes: Spermatogenic failure 98, MIM# 621124, Ciliary dyskinesia, primary, 54, MIM# 621125",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:08:18.290245+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:07:49.475584+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:05:59.404606+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:05:28.854421+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2025-03-14T14:54:14.487744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2025-03-14T14:53:55.277206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2025-03-14T12:49:09.734394+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 38549403, 27540107, 29652087, 34982360; Phenotypes: Microcephaly 10, primary, autosomal recessive, MIM# 615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2025-03-14T12:42:59.550576+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2025-03-14T12:12:54.386948+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466283, 26123727, 25873735, 26070982, 30315938; Phenotypes: Galloway-Mowat syndrome 1, MIM# 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2025-03-14T12:07:57.850335+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 37692084, 19533689, 29758347, 19006247; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:50:51.876454+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:50:51.850288+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: hexa has been classified as Green List (High Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:50:23.712350+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: HEXA were set to ",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:49:23.095715+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1585",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: HMGCS2 as ready",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:49:23.089210+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1585",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: hmgcs2 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:49:17.603492+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1585",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: HMGCS2 were set to ",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:48:33.056524+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1584",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: HOGA1 were set to 31123811",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:44:12.885417+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1583",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: IGF1R as ready",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:44:12.869855+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1583",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: igf1r has been classified as Green List (High Evidence).",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:43:56.888570+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1583",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: IGF1R were set to ",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:43:20.529658+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1582",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: IQSEC2 as ready",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:43:20.521726+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1582",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: iqsec2 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:43:15.811272+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1582",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to ",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:42:26.857243+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1581",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:42:26.845281+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1581",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:42:18.144284+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1581",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:41:35.839958+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1580",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
}
]
}