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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=45",
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"results": [
{
"created": "2026-02-02T20:43:08.098184+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46304-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:43:04.530935+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:42:54.344417+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46304-Gain as Green List (high evidence)",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:42:54.337112+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46304-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:42:29.599306+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46304-Gain as ready",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:42:29.592894+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46304-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:42:24.827984+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46304-Gain as Green List (high evidence)",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:42:24.816869+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46304-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:41:35.204819+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46304-Gain as ready",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:41:35.198072+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46304-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:41:29.025707+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46304-Gain as Green List (high evidence)",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:41:29.018049+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46304-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:40:49.987226+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46743-Gain as ready",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:40:49.980057+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46743-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:40:42.213407+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46743-Gain as Green List (high evidence)",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:40:42.202423+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46743-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:40:24.315411+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46743-Gain as ready",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:40:24.308886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46743-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:40:17.026666+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46743-Gain as Green List (high evidence)",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:40:17.012023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46743-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T10:55:08.120447+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.645",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46743-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T10:55:07.765249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.645",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46743-Gain was added\nRegion: ISCA-46743-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen\nMode of inheritance for Region: ISCA-46743-Gain 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 Region: ISCA-46743-Gain were set to Xq25 duplication syndrome, MIM#300979",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T10:53:18.664927+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.152",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-46743-Gain were changed from Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome to Xq25 duplication syndrome, MIM#300979",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T10:52:42.287158+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.644",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46304-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T10:52:41.902867+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.644",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46304-Gain was added\nRegion: ISCA-46304-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen\nMode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399\nPhenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T10:51:59.939566+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.364",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46304-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T10:51:58.774793+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.364",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46304-Gain was added\nRegion: ISCA-46304-Gain was added to Genetic Epilepsy. Sources: ClinGen\nMode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399\nPhenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T10:50:42.585533+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.151",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46304-Gain was added\nRegion: ISCA-46304-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399\nPhenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283\nReview for Region: ISCA-46304-Gain was set to GREEN\nAdded comment: Known Clingen triplosensitive region containing MECP2 and IRAK1. Associated with intellectual disability, seizures, hypotonia, mild dysmorphism. Typically affects males but females may be mildly affected. \nSources: ClinGen",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T10:34:14.981192+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.37",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46302-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T10:34:14.834028+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.37",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46302-Gain was added\nRegion: ISCA-46302-Gain was added to Differences of Sex Development. Sources: ClinGen\nMode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for Region: ISCA-46302-Gain were set to 46,XY sex reversal 2, MONDO:0010226",
"entity_name": "ISCA-46302-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T09:52:37.401825+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.643",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T09:52:37.064802+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.643",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46300-Loss was added\nRegion: ISCA-46300-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen\nMode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T09:51:51.304080+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.524",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T09:51:51.089997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.524",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46300-Loss was added\nRegion: ISCA-46300-Loss was added to Fetal anomalies. Sources: ClinGen\nMode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T09:51:47.915129+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.242",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T09:51:47.772043+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.242",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46300-Loss was added\nRegion: ISCA-46300-Loss was added to Autism. Sources: ClinGen\nMode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T08:51:13.011595+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.642",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46299-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T08:51:12.515799+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.642",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46299-Gain was added\nRegion: ISCA-46299-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-46299-Gain.\nMode of inheritance for Region: ISCA-46299-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for Region: ISCA-46299-Gain were set to PMID: 22840365\nPhenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705",
"entity_name": "ISCA-46299-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T08:00:18.257163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4231",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene KDM1A from panel Primary nodular adrenocortical disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-02T07:59:54.065927+11:00",
"panel_name": "Primary nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KDM1A as Green List (high evidence)",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2026-02-02T07:59:54.057898+11:00",
"panel_name": "Primary nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kdm1a has been classified as Green List (High Evidence).",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2026-02-02T07:59:50.178802+11:00",
"panel_name": "Primary nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: KDM1A as ready",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2026-02-02T07:59:50.169931+11:00",
"panel_name": "Primary nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kdm1a has been classified as Red List (Low Evidence).",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2026-02-02T07:59:45.959102+11:00",
"panel_name": "Primary nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KDM1A was added\ngene: KDM1A was added to Primary nodular adrenocortical disease. Sources: Literature\nMode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM1A were set to 34655521, 34906447\nPhenotypes for gene: KDM1A were set to ACTH-independent macronodular adrenal hyperplasia 3, MONDO:0700299\nReview for gene: KDM1A was set to GREEN\nAdded comment: Numerous cases reported and established gene-disease association. \nSources: Literature",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2026-02-02T07:54:55.613162+11:00",
"panel_name": "Primary nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Primary pigmented nodular adrenocortical disease to Primary nodular adrenocortical disease\nHPO terms changed from Pigmented micronodular adrenocortical disease, HP:0001580 to Pigmented micronodular adrenocortical disease, HP:0001580; Macronodular adrenal hyperplasia, HP:0008231",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-01T17:25:13.195287+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYADML2 as ready",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2026-02-01T17:25:13.185276+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myadml2 has been classified as Red List (Low Evidence).",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:52:25.509108+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MYADML2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-01T16:52:25.348355+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYADML2 was added\ngene: MYADML2 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Red,Literature\nSV/CNV tags were added to gene: MYADML2.\nMode of inheritance for gene: MYADML2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYADML2 were set to 32778762\nPhenotypes for gene: MYADML2 were set to MYADML2-related connective tissue disroder MONDO:0003900",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:51:26.004003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYADML2 were changed from Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles to MYADML2-related connective tissue disroder MONDO:0003900",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:50:30.448696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF5 were changed from Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) to Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:48:58.129319+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OXA1L were changed from encephalopathy; hypotonia; developmental delay to OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:48:21.975243+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OXA1L: Changed phenotypes: OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:48:05.794373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OXA1L were changed from Encephalopathy; hypotonia; developmental delay to OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:47:23.407991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities; early neonatal death to PAICS deficiency MONDO:0859003",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:47:08.035409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PAICS: Changed phenotypes: PAICS deficiency MONDO:0859003",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:46:41.745327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities to PAICS deficiency MONDO:0859003",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:45:42.300710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX3 were set to 20301703; 30854529",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2026-02-01T16:45:23.023535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2026-02-01T15:58:25.965031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2026-02-01T15:58:01.953426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS2 were set to 17384640; 15002045; 16788019",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2026-02-01T15:57:42.485022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DARS2: Added comment: PMID 40814755 reports 5 individuals from 3 unrelated families with CMT.; Changed publications: 17384640, 15002045, 16788019, 40814755; Changed phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105, Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2026-02-01T15:57:03.921188+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DARS2 were changed from Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings to Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2026-02-01T15:56:43.409902+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS2 were set to ",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2026-02-01T15:56:17.525633+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40814755; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2026-02-01T13:45:30.251762+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XK as ready",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2026-02-01T13:45:30.240167+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xk has been classified as Green List (High Evidence).",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2026-02-01T13:45:27.297531+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XK were changed from to McLeod Syndrome with or without chronic granulomatous disease (MIM#300842)",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2026-02-01T13:44:54.973221+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XK were set to ",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2026-02-01T13:44:26.782989+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:48:39.102272+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:48:01.949618+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STXBP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:47:53.727249+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note recent report of BIALLELIC variants in this gene causing EE through GoF in two families.; to: Note recent report of BIALLELIC variants in this gene causing EE through GoF in one family. RED for this MOI.",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:43:13.538974+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG11 as ready",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:43:13.528348+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg11 has been classified as Green List (High Evidence).",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:43:08.568455+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG11 were set to ",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:38:29.056805+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPART were changed from Troyer syndrome; OMIM #275900 to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:37:57.938341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPART were set to PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:36:52.674517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPART as ready",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:36:52.662929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spart has been classified as Green List (High Evidence).",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:31:35.016526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4222",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SPART from panel Hereditary Spastic Paraplegia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-01T12:31:34.426641+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPART was added\ngene: SPART was added to Mendeliome. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPART were set to 12134148; 20437587; 26003402; 27112432; 31535723; 31535723; 28875386; 28679690\nPhenotypes for gene: SPART were set to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:31:20.859264+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.639",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene SPART from panel Hereditary Spastic Paraplegia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-01T12:29:50.618169+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:29:32.229415+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPART as No list",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:29:32.221683+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spart has been removed from the panel.",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:26:56.842101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:26:05.596747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1B as ready",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:26:05.586184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1b has been classified as Green List (High Evidence).",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:10:26.067331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4221",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SCN1B from panel Genetic Epilepsy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-01T12:10:24.933298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN1B was added\ngene: SCN1B was added to Mendeliome. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Epilepsy Flagship\nMode of inheritance for gene: SCN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCN1B were set to 19710327; 28218389; 23148524\nPhenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:09:44.975871+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN1B as No list",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:09:44.965436+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1b has been removed from the panel.",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2026-02-01T12:09:12.185776+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2026-02-01T11:57:34.877402+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKN as ready",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2026-02-01T11:57:34.864385+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkn has been classified as Green List (High Evidence).",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2026-02-01T11:57:32.570343+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2 MIM#600116",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2026-02-01T11:57:05.476541+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKN were set to ",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2026-02-01T11:56:38.200832+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2026-02-01T10:14:04.809354+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMS2 as ready",
"entity_name": "PMS2",
"entity_type": "gene"
}
]
}