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{
"count": 220650,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=119",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=117",
"results": [
{
"created": "2025-11-21T17:07:56.492788+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.435",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GLS from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-21T17:07:12.097493+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GLS from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-21T17:06:23.115208+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GLS from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-21T17:04:20.162313+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSN as ready",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-11-21T17:04:20.152934+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsn has been classified as Green List (High Evidence).",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-11-21T17:04:18.270920+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSN were changed from Epilepsy; developmental delay; obesity to Neurodevelopmental disorder (MONDO:0700092), BSN-related",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-11-21T17:03:55.265082+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BSN as Green List (high evidence)",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-11-21T17:03:55.253233+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsn has been classified as Green List (High Evidence).",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-11-21T17:02:52.843502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from GM1 gangliosidosis MONDO:0018149; GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010 to GM1 gangliosidosis MONDO:0018149; Mucopolysaccharidosis type IVB (Morquio) MIM#253010",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2025-11-21T17:01:20.725493+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, MIM# 232500 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-21T17:00:43.300886+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GBE1: Changed phenotypes: Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-21T17:00:22.036532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:59:40.255433+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, MIM#\t600001 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:59:14.277906+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA6: Changed phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:59:01.470142+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, MIM# 600001 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:58:33.751807+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Mode of inheritance: None",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:58:11.322799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:57:29.941042+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:56:58.719293+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA4: Changed phenotypes: Structural congenital heart disease, multiple types - GATA4 MONDO:0100009",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:56:18.826670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:55:16.379730+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA2 were changed from Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:54:53.928919+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA2: Changed phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:54:21.530145+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA2 were changed from Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:53:58.001419+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA2: Added comment: Lumped by ClinGen.; Changed phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:53:30.262689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA2 were changed from Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:52:29.887364+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124 to Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:46:28.665555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3635",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM#\t618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM#\t618412; Cataract to Epileptic encephalopathy, early infantile, 71, MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM#618412; CASGID syndrome MIM#618339",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:44:59.737401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3634",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GLS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: CASGID syndrome MIM#618339; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2025-11-21T16:31:37.221923+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.20",
"user_name": "Sinead OSullivan",
"item_type": "entity",
"text": "gene: BSN was added\ngene: BSN was added to Severe early-onset obesity. Sources: Literature\nMode of inheritance for gene: BSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BSN were set to 40393460\nPhenotypes for gene: BSN were set to Epilepsy; developmental delay; obesity\nReview for gene: BSN was set to GREEN\nAdded comment: Guzman et al 2025: Described 12 additional patients with missense (3/12) and premature termination variants (9/12) which included de novo and inherited variants, suggesting incomplete penetrance.\r\n\r\nThey assessed all reported patients (n=29) which revealed common clinical characteristics including epilepsy(13/29), febrile seizures (7/29), generalised tonic-clonic seizures (5/29), and focal-onset seizures (3/29). Behavioural phenotypes were present in almost half of all individuals (14/29), which included ADHD (7/29) and autistic behaviour (5/29). Additional common features included developmental delay (11/29), obesity (10/29), and delayed speech (8/29). In adults with BSN PTVs, milder features were common, suggesting phenotypic variability, including a range of individuals without obvious neurodevelopmental features (7/29). \nSources: Literature",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-11-21T15:20:48.654243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3634",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GLI1 were changed from Polydactyly, postaxial, type A8\tMIM#618123; Polydactyly, preaxial I\tMIM#174400 to Postaxial polydactyly MONDO:0020927, GLI1-related; Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2025-11-21T15:19:16.608078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3633",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Postaxial polydactyly MONDO:0020927, GLI1-related; Mode of inheritance: None",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2025-11-21T15:15:49.615508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 MIM#108500 to Developmental and epileptic encephalopathy 42, MIM# 617106",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T14:56:39.891286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3632",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010 to GM1 gangliosidosis MONDO:0018149; GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2025-11-21T14:56:17.221437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3631",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1 gangliosidosis MONDO:0018149; Mode of inheritance: None",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2025-11-21T14:52:24.158104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3631",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "commented on gene: GJC2",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2025-11-21T14:05:39.306525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3631",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-21T14:04:42.283542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3630",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Mode of inheritance: None",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-21T13:58:12.856821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3630",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-21T13:57:16.787594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3629",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Mode of inheritance: None",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-21T13:54:01.039988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3629",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2025-11-21T13:53:02.617221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3628",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Mode of inheritance: None",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2025-11-21T13:48:14.553324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3628",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Mode of inheritance: None",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2025-11-21T13:37:15.538791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3628",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124 to Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2025-11-21T13:35:33.969338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3627",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "commented on gene: GAD1",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2025-11-21T11:58:36.753844+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2025-11-21T11:58:36.743953+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2025-11-21T11:58:29.638877+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2025-11-21T11:55:51.823710+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMG2 as ready",
"entity_name": "PSMG2",
"entity_type": "gene"
},
{
"created": "2025-11-21T11:55:51.813925+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmg2 has been classified as Red List (Low Evidence).",
"entity_name": "PSMG2",
"entity_type": "gene"
},
{
"created": "2025-11-21T11:55:24.412634+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QB as ready",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2025-11-21T11:55:24.402692+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qb has been classified as Red List (Low Evidence).",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2025-11-21T10:58:51.331078+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.110",
"user_name": "Sinead OSullivan",
"item_type": "entity",
"text": "gene: ALDH4A1 was added\ngene: ALDH4A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH4A1 were set to 9700195 34037900 31884946\nReview for gene: ALDH4A1 was set to GREEN\nAdded comment: At least 5 unrelated families reported, clinical features are predominantly ID and seizures. \nSources: Literature",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2025-11-21T10:30:09.674652+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRP12 as ready",
"entity_name": "RRP12",
"entity_type": "gene"
},
{
"created": "2025-11-21T10:30:09.664783+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrp12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRP12",
"entity_type": "gene"
},
{
"created": "2025-11-21T10:01:15.597689+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1A were set to 27476654; 33985586",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T10:00:41.727654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T10:00:02.952159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.431",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene CACNA1A from panel Genetic Epilepsy",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-21T09:58:32.470994+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, MIM# 617106 to Developmental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2 MIM#108500",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:57:42.068602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:57:16.666425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654, 36063114; Phenotypes: Developmental and epileptic encephalopathy 42, MIM# 617106; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:55:46.136833+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:55:16.622231+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CACNA1A: Added comment: PMID 36063114: further evidence for bi-alleic association. Summarises 10 individuals from 5 families.; Changed publications: 27476654, 36063114",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:58.963882+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN3 as ready",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:58.956562+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Green List (High Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:57.200118+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 204200 to Ceroid lipofuscinosis, neuronal, 3 MIM#204200",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:48.177141+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN3 were set to ",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:33.280428+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:00.924696+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN5 as ready",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:00.917297+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:33:57.483965+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN5 were set to ",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:33:41.100455+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:33:08.826305+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:33:08.815218+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:32:49.902789+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN6 were set to ",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:32:33.672882+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:31:55.482116+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN8 as ready",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:31:55.470858+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:31:52.724105+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN8 were set to ",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:31:39.101334+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:30:10.599970+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPM2A as ready",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:30:10.592800+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epm2a has been classified as Green List (High Evidence).",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:30:07.135328+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPM2A were set to ",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:29:50.803456+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:50.274948+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: HNF1B: LoF is the established mechanism of disease.",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:38.315100+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1B as ready",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:38.305650+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1b has been classified as Green List (High Evidence).",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:34.703482+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:12.587238+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNF1B were set to ",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:27:49.658495+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:27:26.236680+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HNF1B.",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:27:17.107079+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:26:31.332536+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUC1 as ready",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:26:31.319423+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc1 has been classified as Green List (High Evidence).",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:26:24.638545+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1 (MIM#174000)",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:26:01.735695+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUC1 were set to ",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:25:33.484040+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:25:08.369632+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag VNTR tag was added to gene: MUC1.",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:24:57.971239+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Medullary cystic kidney disease 1 (MIM#174000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:23:43.416596+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UMOD as ready",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:23:43.399782+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umod has been classified as Green List (High Evidence).",
"entity_name": "UMOD",
"entity_type": "gene"
}
]
}