{"count":220483,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=80","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=78","results":[{"created":"2025-12-19T18:48:39.881019+11:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37425-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T18:48:26.174821+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.317","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37429-Loss as ready","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T18:48:26.168291+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.317","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37429-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T18:48:11.273793+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37429-Loss as ready","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T18:48:11.264284+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37429-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T18:47:55.577942+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37429-Loss as ready","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T18:47:55.571643+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37429-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T18:47:42.932268+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.381","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37429-Loss as ready","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T18:47:42.925773+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.381","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37429-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T18:47:11.696773+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BAZ2B were set to 31999386","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2025-12-19T18:46:34.020877+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.523","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BAZ2B: Changed rating: AMBER","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2025-12-19T18:46:09.775515+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2025-12-19T18:45:26.159147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3835","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2025-12-19T17:31:39.209960+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2025-12-19T17:29:07.294305+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACD were set to 31515401; 27807141; 25205116","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:28:33.627878+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ACD was changed from Other to None","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:28:03.782524+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:27:41.963780+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:27:14.161859+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:26:20.959109+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACD as Green List (high evidence)","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:26:20.927989+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acd has been classified as Green List (High Evidence).","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:25:28.122408+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACD as Green List (high evidence)","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:25:28.081884+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acd has been classified as Green List (High Evidence).","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:24:22.661203+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: None; Publications: 38176734, 31515401; Phenotypes: pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACD","entity_type":"gene"},{"created":"2025-12-19T17:16:36.212632+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POT1 as ready","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:16:36.199251+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pot1 has been classified as Amber List (Moderate Evidence).","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:16:29.953329+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POT1 as Amber List (moderate evidence)","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:16:29.945496+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pot1 has been classified as Amber List (Moderate Evidence).","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:16:15.790915+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POT1 were changed from Hereditary neoplastic syndrome, MONDO:0015356, POT1-related to Telomere syndrome, MONDO:0100137, POT1-related","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:15:49.657220+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.370","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POT1: Changed phenotypes: Telomere syndrome, MONDO:0100137, POT1-related","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:15:48.060717+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POT1 was added\ngene: POT1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POT1 were set to 35420632; 30995915\nPhenotypes for gene: POT1 were set to Telomere syndrome, MONDO:0100137, POT1-related\nReview for gene: POT1 was set to AMBER\nAdded comment: PMID 30995915 reports one individual with a heterozygous POT1 p.Q301H missense variant and adult‑onset progressive pulmonary fibrosis. PMID 35420632 reports 4 individuals from another unrelated family with a heterozygous POT1 p.L259S missense variant and adult‑onset idiopathic pulmonary fibrosis; the variant co‑segregates across two generations, shows genetic anticipation, and functional assays demonstrate loss‑of‑function. Telomere biology disorder. \nSources: Literature","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:15:07.730305+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POT1 were changed from Hereditary neoplastic syndrome, MONDO:0015356, POT1-related to Telomere syndrome, MONDO:0100137, POT1-related","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:14:36.059595+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.131","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telomere syndrome, MONDO:0100137, POT1-related; Mode of inheritance: None","entity_name":"POT1","entity_type":"gene"},{"created":"2025-12-19T17:12:46.861726+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPC2 as ready","entity_name":"NPC2","entity_type":"gene"},{"created":"2025-12-19T17:12:46.854527+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npc2 has been classified as Green List (High Evidence).","entity_name":"NPC2","entity_type":"gene"},{"created":"2025-12-19T17:12:44.745902+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2 MIM#607625 to Niemann-Pick disease, type C2 MIM#607625","entity_name":"NPC2","entity_type":"gene"},{"created":"2025-12-19T17:12:14.620104+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPC2 as Green List (high evidence)","entity_name":"NPC2","entity_type":"gene"},{"created":"2025-12-19T17:12:14.584261+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npc2 has been classified as Green List (High Evidence).","entity_name":"NPC2","entity_type":"gene"},{"created":"2025-12-19T17:11:53.401688+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPC2 was added\ngene: NPC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC2 were set to 36553254; 26024245; 25772320\nPhenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 MIM#607625\nReview for gene: NPC2 was set to GREEN\nAdded comment: PMID 25772320 reports 3 families; PMID 26024245 reports 1 family; PMID 28095804 reports 2 families; PMID 36553254 reports 1 family; PMID 39789920 reports 2 families (including 1 overlapping with PMID 26024245). In total 8 unrelated families (11 patients) present with Niemann‑Pick disease type C2 characterised by early‑onset interstitial lung disease/pulmonary alveolar proteinosis, and other features such as hepatosplenomegaly, and neurodevelopmental delay. \nSources: Literature","entity_name":"NPC2","entity_type":"gene"},{"created":"2025-12-19T17:07:49.673574+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFAF6 as ready","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2025-12-19T17:07:49.656153+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufaf6 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2025-12-19T17:07:14.142102+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFAF6 as Amber List (moderate evidence)","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2025-12-19T17:07:14.125942+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufaf6 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2025-12-19T17:06:44.017292+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFAF6 was added\ngene: NDUFAF6 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nfounder tags were added to gene: NDUFAF6.\nMode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFAF6 were set to 27466185\nPhenotypes for gene: NDUFAF6 were set to Fanconi renotubular syndrome 5, MIM# 618913\nReview for gene: NDUFAF6 was set to AMBER\nAdded comment: PMID 27466185 reports 12 individuals from 8 unrelated families with biallelic intronic NDUFAF6 variants presenting with Acadian variant of Fanconi syndrome (renal Fanconi syndrome from birth, progressive chronic kidney disease, pulmonary interstitial fibrosis). Supportive functional data. Founder variant. No evidence other variants in this gene cause a lung phenotype. \nSources: Literature","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2025-12-19T17:04:19.727833+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MUC5B from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-19T17:04:19.522673+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUC5B was added\ngene: MUC5B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services\n5'UTR tags were added to gene: MUC5B.\nMode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MUC5B were set to 21506741; 21506748\nPhenotypes for gene: MUC5B were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500","entity_name":"MUC5B","entity_type":"gene"},{"created":"2025-12-19T17:02:47.143696+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2025-12-19T17:02:47.133739+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2025-12-19T17:02:43.043707+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MMACHC as Green List (high evidence)","entity_name":"MMACHC","entity_type":"gene"},{"created":"2025-12-19T17:02:43.032318+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2025-12-19T17:02:06.818552+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMACHC was added\ngene: MMACHC was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 33231183; 32293809\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400\nReview for gene: MMACHC was set to GREEN\nAdded comment: PMID 32293809 reports four unrelated families and PMID 33231183 reports one unrelated family with MMACHC variants presenting with childhood‑onset diffuse interstitial lung disease, alveolar hemorrhage, pulmonary microangiopathy and pulmonary arterial hypertension; PMID 31969166 adds five additional individuals with MMACHC variants and interstitial lung disease. \nSources: Literature","entity_name":"MMACHC","entity_type":"gene"},{"created":"2025-12-19T17:00:29.055698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3834","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMP3 as ready","entity_name":"LAMP3","entity_type":"gene"},{"created":"2025-12-19T17:00:29.047467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3834","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp3 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMP3","entity_type":"gene"},{"created":"2025-12-19T16:57:11.345869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3834","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene LAMP3 from panel Pulmonary Fibrosis_Interstitial Lung Disease","entity_name":null,"entity_type":null},{"created":"2025-12-19T16:57:10.743419+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3834","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMP3 was added\ngene: LAMP3 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: LAMP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMP3 were set to 40023045; 34161347\nPhenotypes for gene: LAMP3 were set to Interstitial lung disease, MONDO:0015925, LAMP3-related","entity_name":"LAMP3","entity_type":"gene"},{"created":"2025-12-19T16:26:09.618345+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMP3 as ready","entity_name":"LAMP3","entity_type":"gene"},{"created":"2025-12-19T16:26:09.607595+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp3 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMP3","entity_type":"gene"},{"created":"2025-12-19T16:26:05.573571+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMP3 as Amber List (moderate evidence)","entity_name":"LAMP3","entity_type":"gene"},{"created":"2025-12-19T16:26:05.566101+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp3 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMP3","entity_type":"gene"},{"created":"2025-12-19T16:25:38.576124+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMP3 was added\ngene: LAMP3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: LAMP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMP3 were set to 40023045; 34161347\nPhenotypes for gene: LAMP3 were set to Interstitial lung disease, MONDO:0015925, LAMP3-related\nReview for gene: LAMP3 was set to AMBER\nAdded comment: PMID 40023045 reports a proband from one family with bi‑allelic loss‑of‑function LAMP3 variants causing childhood interstitial lung disease, and references three additional unrelated families (total 4 families, ≥5 individuals) with similar chILD phenotypes but details on these are scant. Supportive mouse model published previously PMID 34161347. \nSources: Literature","entity_name":"LAMP3","entity_type":"gene"},{"created":"2025-12-19T16:20:01.116310+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFIH1 as ready","entity_name":"IFIH1","entity_type":"gene"},{"created":"2025-12-19T16:20:01.108417+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifih1 has been classified as Amber List (Moderate Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2025-12-19T16:19:33.281041+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFIH1 as Amber List (moderate evidence)","entity_name":"IFIH1","entity_type":"gene"},{"created":"2025-12-19T16:19:33.272719+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifih1 has been classified as Amber List (Moderate Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2025-12-19T16:16:56.570479+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFIH1 was added\ngene: IFIH1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IFIH1 were set to 37126154; 32508843\nPhenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM#615846\nReview for gene: IFIH1 was set to AMBER\nAdded comment: PMID 32508843 reports an individual with a heterozygous gain-of-function IFIH1 p.R779H variant causing Aicardi‑Goutières syndrome with interstitial lung disease, psoriasis and pulmonary hypertension; PMID 37126154 reports a second individual with a de novo heterozygous gain-of-function IFIH1 variant causing infantile lethal interstitial lung disease. This may be be a rare but significant manifestation of AGS. \nSources: Literature","entity_name":"IFIH1","entity_type":"gene"},{"created":"2025-12-19T16:13:25.281121+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDUA as ready","entity_name":"IDUA","entity_type":"gene"},{"created":"2025-12-19T16:13:25.270423+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idua has been classified as Green List (High Evidence).","entity_name":"IDUA","entity_type":"gene"},{"created":"2025-12-19T16:13:05.533822+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IDUA as Green List (high evidence)","entity_name":"IDUA","entity_type":"gene"},{"created":"2025-12-19T16:13:05.526093+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idua has been classified as Green List (High Evidence).","entity_name":"IDUA","entity_type":"gene"},{"created":"2025-12-19T16:12:38.999611+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IDUA was added\ngene: IDUA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDUA were set to 37218880; 29654546\nPhenotypes for gene: IDUA were set to Mucopolysaccharidosis type 1, MONDO:0001586\nReview for gene: IDUA was set to GREEN\nAdded comment: PMID 29654546 reports 2 individuals from 2 families and PMID 37218880 reports another individual, all with biallelic loss-of-function IDUA variants causing mucopolysaccharidosis type I (Hurler syndrome) presenting with neonatal interstitial lung disease, characterized by early respiratory failure and ground‑glass opacities. \nSources: Literature","entity_name":"IDUA","entity_type":"gene"},{"created":"2025-12-19T16:10:58.490632+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS as ready","entity_name":"IARS","entity_type":"gene"},{"created":"2025-12-19T16:10:58.480803+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars has been classified as Green List (High Evidence).","entity_name":"IARS","entity_type":"gene"},{"created":"2025-12-19T16:10:54.580269+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IARS as Green List (high evidence)","entity_name":"IARS","entity_type":"gene"},{"created":"2025-12-19T16:10:54.570393+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars has been classified as Green List (High Evidence).","entity_name":"IARS","entity_type":"gene"},{"created":"2025-12-19T16:10:11.628409+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IARS was added\ngene: IARS was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS were set to 40635052; 39950113\nPhenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093\nReview for gene: IARS was set to GREEN\nAdded comment: PMID 39950113 reports an infant with biallelic IARS1 variants presenting with infantile pulmonary alveolar proteinosis, growth retardation, microcephaly, hypotonia, developmental delay and hepatopathy; PMID 40635052 reports 14 individuals from 14 unrelated families with biallelic IARS1 variants causing a recessive multisystem syndrome that includes pulmonary alveolar proteinosis in three families. \nSources: Literature","entity_name":"IARS","entity_type":"gene"},{"created":"2025-12-19T16:08:02.681677+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HMOX1 as ready","entity_name":"HMOX1","entity_type":"gene"},{"created":"2025-12-19T16:08:02.671031+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmox1 has been classified as Amber List (Moderate Evidence).","entity_name":"HMOX1","entity_type":"gene"},{"created":"2025-12-19T16:07:48.603528+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HMOX1 as Amber List (moderate evidence)","entity_name":"HMOX1","entity_type":"gene"},{"created":"2025-12-19T16:07:48.593878+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmox1 has been classified as Amber List (Moderate Evidence).","entity_name":"HMOX1","entity_type":"gene"},{"created":"2025-12-19T16:07:21.314426+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HMOX1 was added\ngene: HMOX1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMOX1 were set to 38178812; 33066778\nPhenotypes for gene: HMOX1 were set to Heme oxygenase-1 deficiency, MIM# 614034\nReview for gene: HMOX1 was set to AMBER\nAdded comment: PMID 33066778 and PMID 38178812 report 2 unrelated families (2 individuals) with biallelic HMOX1 loss‑of‑function variants presenting with childhood‑onset interstitial lung disease, hyperinflammation, haemophagocytic flares and multi‑system involvement. \nSources: Literature","entity_name":"HMOX1","entity_type":"gene"},{"created":"2025-12-19T16:03:14.323491+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCR2 as ready","entity_name":"CCR2","entity_type":"gene"},{"created":"2025-12-19T16:03:14.313179+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccr2 has been classified as Green List (High Evidence).","entity_name":"CCR2","entity_type":"gene"},{"created":"2025-12-19T16:03:10.598305+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCR2 as Green List (high evidence)","entity_name":"CCR2","entity_type":"gene"},{"created":"2025-12-19T16:03:10.586641+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccr2 has been classified as Green List (High Evidence).","entity_name":"CCR2","entity_type":"gene"},{"created":"2025-12-19T16:01:34.403969+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCR2 was added\ngene: CCR2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: CCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCR2 were set to 40432300; 40325923; 38157855\nPhenotypes for gene: CCR2 were set to Polycystic lung disease MIM#219600\nReview for gene: CCR2 was set to GREEN\nAdded comment: Childhood interstitial lung disease precedes the development of polycystic changes. Established gene-disease association, with more than 6 unrelated families reported. \nSources: Literature","entity_name":"CCR2","entity_type":"gene"},{"created":"2025-12-19T15:57:48.468004+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.523","user_name":"Sarah Milton","item_type":"panel","text":"Added reviews for gene BAZ2B from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:57:07.316231+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIRE as ready","entity_name":"AIRE","entity_type":"gene"},{"created":"2025-12-19T15:57:07.302147+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aire has been classified as Green List (High Evidence).","entity_name":"AIRE","entity_type":"gene"},{"created":"2025-12-19T15:57:05.840392+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.234","user_name":"Sarah Milton","item_type":"panel","text":"Added reviews for gene BAZ2B from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:57:02.772611+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AIRE as Green List (high evidence)","entity_name":"AIRE","entity_type":"gene"},{"created":"2025-12-19T15:57:02.757947+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aire has been classified as Green List (High Evidence).","entity_name":"AIRE","entity_type":"gene"},{"created":"2025-12-19T15:56:38.588714+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIRE was added\ngene: AIRE was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AIRE were set to 34401309; 31167928; 28458664\nPhenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300\nReview for gene: AIRE was set to GREEN\nAdded comment: PMID 31167928 describes 21 APECED patients with pneumonitis (in some instances fatal), all carrying biallelic AIRE loss‑of‑function variants, and provides mouse model and patient bronchoalveolar lavage data linking AIRE deficiency to disease. \nSources: Literature","entity_name":"AIRE","entity_type":"gene"},{"created":"2025-12-19T15:55:52.235188+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3833","user_name":"Sarah Milton","item_type":"entity","text":"edited their review of gene: BAZ2B: Added comment: Reviewed new literature in regards to gene disease association. \r\n\r\nClassified as limited by ClinGen in 2022. Additional publication Sewani et al 2024 describes 10 additional individuals with variants in BAZ2B however a number were inherited, some were multigenic CNV's. \r\n\r\nNo functional evidence/animal models to support haploinsufficiency/loss of function as resulting in neurodev phenotype have been published thus far. \r\n\r\nTo remain as amber given a number of inherited variants, lack of functional evidence and LOF variants present in gnomAD.; Changed rating: AMBER; Changed publications: PMID: 37872713; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2025-12-19T15:26:59.863081+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.522","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:26:59.439024+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.522","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Gain was added\nRegion: ISCA-37431-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Gain were set to 22241097\nPhenotypes for Region: ISCA-37431-Gain were set to Chromosome 17q11.2 duplication syndrome, 1.4-Mb\tMIM#618874; NF1 microduplication; intellectual disability; micro- and macrocephaly; seizures; dysmorphic features","entity_name":"ISCA-37431-Gain","entity_type":"region"},{"created":"2025-12-19T15:23:36.109530+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.521","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37430-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:23:35.713342+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.521","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37430-Gain was added\nRegion: ISCA-37430-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37430-Gain.\nMode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Gain were set to Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215; intellectual disability","entity_name":"ISCA-37430-Gain","entity_type":"region"},{"created":"2025-12-19T15:20:54.431240+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.381","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:20:54.276522+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.381","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T15:20:14.632774+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.520","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null}]}