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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=90",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=88",
"results": [
{
"created": "2025-12-16T08:00:47.062756+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:00:38.889712+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:00:28.647843+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.102",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: FOXC2 as ready",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:00:28.636136+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.102",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:00:20.838195+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.102",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies. to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:00:02.335611+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.102",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:59:43.289810+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies. to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:59:24.983799+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from Ectrodactyly, pulmonary acinar dysplasia to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:59:08.154257+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:59:07.516544+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: FGFR2 as ready",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:59:07.488674+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:57:54.760262+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.47",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene KCNK3 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:57:46.200145+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene HRAS from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:57:46.058974+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRAS were set to 18039947; 18978662; 27102959\nPhenotypes for gene: HRAS were set to Costello syndrome\t218040; chILD, pulmonary arterial hypertension\nMode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:57:09.451539+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GDNF from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:57:09.282722+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GDNF was added\ngene: GDNF was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GDNF were set to Central hypoventilation syndrome, MIM# 209880",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:56:31.287539+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.99",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FOXP1 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:56:31.152526+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.99",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FOXP1 was added\ngene: FOXP1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP1 were set to 28884888\nPhenotypes for gene: FOXP1 were set to Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI)",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:55:52.873930+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.99",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FOXC2 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:55:52.741514+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.99",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXC2 were set to 21918810; 25252123\nPhenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus\t153400; infant pulmonary lymphangiectasia",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:55:14.138055+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:54:56.724879+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:54:39.333727+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.99",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FGFR2 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:54:39.201324+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.99",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FGFR2 was added\ngene: FGFR2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: FGFR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGFR2 were set to 27323706\nPhenotypes for gene: FGFR2 were set to Ectrodactyly, pulmonary acinar dysplasia",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:54:01.102385+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:54:00.575645+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CARD11 as ready",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:54:00.563090+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: card11 has been classified as Red List (Low Evidence).",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:53:43.098463+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:53:25.399129+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CARD11 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:53:25.265643+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CARD11 was added\ngene: CARD11 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CARD11 were set to 28628108; 28826773\nPhenotypes for gene: CARD11 were set to Immunodeficiency 11B with atopic dermatitis, MIM#\t617638; HIES (Job syndrome); Bronchiectasis",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:52:47.565604+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:52:29.720782+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:52:12.334753+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:51:55.209228+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:51:41.827142+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CAV1 as ready",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:51:41.816790+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cav1 has been classified as Green List (High Evidence).",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:51:38.090512+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:51:19.948532+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:51:02.268972+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Childhood pulmonary arterial hypertension to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:50:53.947451+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: BMPR1B as ready",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:50:53.936362+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Red List (Low Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:50:32.368310+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: BMPR2 as ready",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:50:32.361111+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: bmpr2 has been classified as Green List (High Evidence).",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:50:24.121624+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ASCL1 as ready",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:50:24.110571+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ascl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:50:09.799339+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ACVRL1 as ready",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:50:09.791102+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:49:35.931869+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CAV1 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:49:35.778693+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CAV1 was added\ngene: CAV1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAV1 were set to 27717241; 22474227\nPhenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3, MIM#\t615343; Lipodystrophy, familial partial, type 7, MIM#\t606721",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:48:50.724279+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.95",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene BMPR2 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:48:50.582453+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.95",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BMPR2 was added\ngene: BMPR2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services\nMode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMPR2 were set to 27587546; 24355637; 22632830; 11115378\nPhenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:48:12.402735+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.95",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene BMPR1B from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:48:12.259976+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.95",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BMPR1B was added\ngene: BMPR1B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Expert list\ndisputed tags were added to gene: BMPR1B.\nMode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMPR1B were set to 22374147; 28768485\nPhenotypes for gene: BMPR1B were set to Childhood pulmonary arterial hypertension\nMode of pathogenicity for gene: BMPR1B was set to Other",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:47:29.561548+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.94",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ASCL1 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:47:29.413257+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.94",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ASCL1 was added\ngene: ASCL1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASCL1 were set to 14532329\nPhenotypes for gene: ASCL1 were set to Central hypoventilation syndrome, congenital, MIM# 209880",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2025-12-16T07:46:32.355374+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.93",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ACVRL1 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T07:46:32.216747+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.93",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACVRL1 were set to 22632830; 27587546\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Childhood Pulmonary Arterial Hypertension",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2025-12-15T22:21:46.610627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3795",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: NEB: Added comment: MOI expansion and upgrade. \r\nThe majority (≈140 families) present with recessive nebulin‑associated nemaline myopathy; >4 unrelated families have a dominant distal myopathy caused by large heterozygous deletions with western‑blot confirmation of a truncated protein. \r\n\r\nAD - Amber --> green: ClinGen Congenital Myopathies GCEP has still classified the dominant association as moderate.\r\nAR - still green: Classified as Definitive by ClinGen Congenital Myopathy GCEP: https://search.clinicalgenome.org/CCID:005608; Changed rating: GREEN; Changed publications: 39802796, 30679003, 33933294, 40661861, 40517164, 36714460, 27933661; Changed phenotypes: autosomal dominant nebulin-related myopathy MONDO:1010152, nemaline myopathy 2 MONDO:0009725; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2025-12-15T11:41:00.459107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3795",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "edited their review of gene: HSPB6: Added comment: HSPB6 encodes heat shock protein family B [small] member 6 and forms homodimers and heterodimers with other members of it's family. In skeletal muscle HSBP6 is thought to function in promoting smooth muscle relaxation through depolymerising actin cytoskeleton. \r\n\r\nPMID: 41294008 describes one individual with adult onset cataract and progressive weakness. His similarly affected mother was not genetically tested. Muscle biopsy demonstrated rimmed vacuoles and accumulation of HSPB6. \r\nVariant was a c terminal extension variant (c.464delC|p.(Pro155Argfs*25) which was thought to result in aggregation of protein and was absent from gnomAD v4. \r\n\r\nOther similar extension variants present in gnomAD v4 were transfected into cell models with those that had unstable mRNA transcripts not recapitulating findings however one other demonstrated accumulation of protein in certain settings.\r\n\r\nFurther literature is required.; Changed publications: 41294008; Changed phenotypes: Myopathy, MONDO:0005336, HSPB6-related",
"entity_name": "HSPB6",
"entity_type": "gene"
},
{
"created": "2025-12-15T11:31:56.912179+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.54",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene HSPB6 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-15T11:31:56.730987+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.54",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: HSPB6 was added\ngene: HSPB6 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: HSPB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HSPB6 were set to 29157081\nPhenotypes for gene: HSPB6 were set to Dilated cardiomyopathy, MONDO:0005021, HSPB6-related",
"entity_name": "HSPB6",
"entity_type": "gene"
},
{
"created": "2025-12-15T11:30:10.152779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3795",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: HSPB6 encodes heat shock protein family B [small] member 6 and forms homodimers and heterodimers with other members of it's family. One of it's roles is in protecting against cellular stress. \r\n\r\nPMID 29157081 reports 11 unrelated individuals with a recurrent missense variant c.29C>T|p.( with dilated cardiomyopathy. Supportive mouse models showed transgenic mice with this variant had early death, and cardiac muscle showed decreased contractility and increased cardiomyocyte apoptosis. \r\n\r\nThis variant is present in gnomAD at a frequency not compatible with rare Mendelian disease with 818 heterozygotes, 2 homozygotes and higher allele frequency in certain subpopulations. \r\nAs such further literature is required to establish it's role in disease. \nSources: Literature; to: HSPB6 encodes heat shock protein family B [small] member 6 and forms homodimers and heterodimers with other members of it's family. One of it's roles is in protecting against cellular stress. \r\n\r\nPMID 29157081 reports 11 unrelated individuals with a recurrent missense variant c.29C>T|p.(Ser10Phe) with dilated cardiomyopathy. Supportive mouse models showed transgenic mice with this variant had early death, and cardiac muscle showed decreased contractility and increased cardiomyocyte apoptosis. \r\n\r\nThis variant is present in gnomAD at a frequency not compatible with rare Mendelian disease with 818 heterozygotes, 2 homozygotes and higher allele frequency in certain subpopulations. \r\nAs such further literature is required to establish it's role in disease. \r\nSources: Literature",
"entity_name": "HSPB6",
"entity_type": "gene"
},
{
"created": "2025-12-15T11:29:45.533438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3795",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: HSPB6 was added\ngene: HSPB6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HSPB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HSPB6 were set to 29157081\nPhenotypes for gene: HSPB6 were set to Dilated cardiomyopathy, MONDO:0005021, HSPB6-related\nReview for gene: HSPB6 was set to RED\nAdded comment: HSPB6 encodes heat shock protein family B [small] member 6 and forms homodimers and heterodimers with other members of it's family. One of it's roles is in protecting against cellular stress. \r\n\r\nPMID 29157081 reports 11 unrelated individuals with a recurrent missense variant c.29C>T|p.( with dilated cardiomyopathy. Supportive mouse models showed transgenic mice with this variant had early death, and cardiac muscle showed decreased contractility and increased cardiomyocyte apoptosis. \r\n\r\nThis variant is present in gnomAD at a frequency not compatible with rare Mendelian disease with 818 heterozygotes, 2 homozygotes and higher allele frequency in certain subpopulations. \r\nAs such further literature is required to establish it's role in disease. \nSources: Literature",
"entity_name": "HSPB6",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:38:10.860342+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:38:10.853093+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:38:04.089214+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2A were changed from intellectual disabilty; corpus callosum anomalies; dysmorphism; growth failure; broad thumbs; microcephaly; cryptorchidism; heart malformation; epilepsy; hirsutism to Wiedemann-Steiner syndrome, MIM# 605130",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:37:16.389917+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KMT2A was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:36:36.902597+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2A as Green List (high evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:36:36.883432+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:35:31.440026+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNND2 as ready",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:35:31.436748+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Additional cytogenetic evidence noted. However, causality not established by these observations, maintain Amber rating.",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:35:31.417397+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:34:55.012606+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTNND2 were set to 25839933; 29127138; 25807484",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:31:12.685289+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABL1 as Green List (high evidence)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:31:12.675214+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:30:44.556919+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABL1 as ready",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:30:44.549358+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been removed from the panel.",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:30:41.532357+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABL1 were changed from PMID: 28288113; PMID: 32643838 to Congenital heart defects and skeletal malformations syndrome (MIM# 617602)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:30:13.339310+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABL1 were set to ",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:29:17.639854+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28288113, 32643838; Phenotypes: Congenital heart defects and skeletal malformations syndrome (MIM# 617602); Mode of inheritance: None",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:27:18.108471+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPZ1 were changed from Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related to Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:26:45.363524+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPZ1: Changed phenotypes: Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:26:25.858656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPZ1: Changed phenotypes: Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-12-15T10:26:04.186102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPZ1 were changed from Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related to Neutropenia, severe congenital, 12, autosomal recessive MIM#\t621439",
"entity_name": "COPZ1",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:01:03.940987+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TC as ready",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:01:03.921237+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tc has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:50.834475+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TC as ready",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:50.815636+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tc has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:39.941990+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TC as ready",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:39.931817+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tc has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:26.460194+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TC as ready",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:26.442325+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tc has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:14.973350+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TC as ready",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:14.965789+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tc has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:04.422026+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TC as ready",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T21:00:04.410269+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tc has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T20:58:54.910747+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TC from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-14T20:58:54.756611+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TC was added\ngene: MT-TC was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-TC.\nMode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL\nPublications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363\nPhenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related",
"entity_name": "MT-TC",
"entity_type": "gene"
},
{
"created": "2025-12-14T20:58:40.322247+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TC from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-14T20:58:40.195342+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TC was added\ngene: MT-TC was added to Retinitis pigmentosa. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-TC.\nMode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL\nPublications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363\nPhenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related",
"entity_name": "MT-TC",
"entity_type": "gene"
}
]
}