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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=57",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=55",
"results": [
{
"created": "2026-01-19T16:57:41.031660+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa3 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:57:10.035712+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:56:48.607746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA3 were set to 41038977; 39661167",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:56:16.749190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA3 as Green List (high evidence)",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:56:16.742371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa3 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:56:04.293359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T13:54:50.143630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC as ready",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2026-01-19T13:54:50.139161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name is G6PC1.",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2026-01-19T13:54:50.120052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc has been classified as Green List (High Evidence).",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2026-01-19T13:54:22.719128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: G6PC.",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2026-01-19T13:12:53.923431+11:00",
"panel_name": "Hypertrophic cardiomyopathy",
"panel_id": 111,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Hypertrophic cardiomyopathy_HCM to Hypertrophic cardiomyopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-19T12:06:15.514229+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MIR17HG.",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:06:08.720572+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR17HG as Amber List (moderate evidence)",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:06:08.710647+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir17hg has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:05:44.903132+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV \nSources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.\r\nSources: Expert list",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:05:24.832115+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIR17HG: Changed rating: AMBER; Changed publications: 25391829, 21892160, 29636449",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:05:11.769708+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MIR17HG were set to PMID: 25391829; 21892160",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:04:33.190721+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR17HG as Amber List (moderate evidence)",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:04:33.183212+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir17hg has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:04:02.225325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. \nSources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.\r\nSources: Expert list",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:03:47.192451+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIR17HG: Added comment: Multiple mouse models.; Changed publications: 25391829, 21892160, 29636449",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:02:34.235370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR17HG as Amber List (moderate evidence)",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:02:34.224689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir17hg has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:02:19.359973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV \nSources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.\r\nSources: Expert list",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:01:40.708042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIR17HG: Changed rating: AMBER",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:01:28.555417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MIR17HG.",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T12:01:12.708769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIR17HG: Added comment: Multiple mouse models.; Changed publications: 25391829, 21892160, 29636449",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:58:05.954201+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR140 as Amber List (moderate evidence)",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:58:05.944734+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir140 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:57:41.562140+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIR140: Added comment: LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:57:20.567459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR140 as Amber List (moderate evidence)",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:57:20.555422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir140 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:56:00.041140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIR140: Added comment: LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:53:11.532514+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:52:18.196617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:51:51.974335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:51:21.948578+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:51:00.243782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:50:38.707551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:50:17.583953+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2026-01-19T11:49:45.170768+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BAIAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: None",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2026-01-16T17:25:25.717732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO9B were set to 16720215; 16423886; 16282976",
"entity_name": "MYO9B",
"entity_type": "gene"
},
{
"created": "2026-01-16T17:25:01.179616+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO9B: Rating: AMBER; Mode of pathogenicity: None; Publications: 40382695; Phenotypes: Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9B",
"entity_type": "gene"
},
{
"created": "2026-01-16T12:00:12.302953+11:00",
"panel_name": "Transplant Co-Morbidity",
"panel_id": 4126,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:59:53.903310+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:59:35.363676+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JUP as ready",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:59:35.355559+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Green List (High Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:59:33.532531+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:59:22.296364+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:59:12.838985+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528, Naxos disease, MIM# 601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:58:44.081673+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JUP as ready",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:58:44.074899+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Green List (High Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:58:42.211758+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia, Naxos disease to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:58:31.303563+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JUP were set to ",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:58:21.809226+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:58:13.849888+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.\r\n\r\nAssociation between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos: DEFINITIVE by ClinGen.\r\n",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:57:53.958395+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:57:34.440834+11:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:57:23.733053+11:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:57:02.942615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:55:36.668939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.\r\n\r\nAssociation between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos: DEFINITIVE by ClinGen.\r\n",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:55:12.579241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:54:55.043635+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JUP as ready",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:54:55.031399+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Green List (High Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:54:28.966252+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:53:46.441889+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:53:20.554351+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.\r\n\r\nAssociation between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos disease: DEFINITIVE by ClinGen.\r\n",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:52:52.950358+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:49:55.704792+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JUP: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:49:40.012201+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:48:37.234902+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:48:10.013220+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DEFINITIVE by ClinGen.; to: DEFINITIVE by ClinGen for the biallelic association.\r\n\r\nLimited evidence for mono allelic association.",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T11:47:50.511214+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JUP: Changed phenotypes: Naxos disease, MIM# 601214, Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2026-01-16T10:28:08.071249+11:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-16T09:53:58.903289+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-01-16T09:53:26.674208+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-01-16T09:53:03.726874+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-01-16T09:52:28.646392+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-01-16T09:52:04.811708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-01-16T09:51:31.397687+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:30:21.271320+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB1 were changed from Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:29:47.531565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COPB1 were set to 33632302",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:28:59.435344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB1 as Green List (high evidence)",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:28:59.427063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Green List (High Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:28:29.534816+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed rating: GREEN; Changed publications: 33632302, 40396222; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:28:03.936884+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB1 were changed from Baralle-Macken syndrome, MIM#\t619255; Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM#\t619255",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:27:36.673684+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COPB1 were set to 33632302",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:27:07.510430+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed publications: 33632302, 40396222; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:26:39.179419+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB1: Changed rating: GREEN",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:26:31.611275+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB1 as Green List (high evidence)",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:26:31.601800+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Green List (High Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:26:04.719306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB1 as Green List (high evidence)",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:26:04.704191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Green List (High Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:25:49.917879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed rating: GREEN; Changed publications: 40396222, 33632302; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:22:43.749858+11:00",
"panel_name": "Leukodystrophy",
"panel_id": 298,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNP were set to 32128616; 12590258",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:22:27.432933+11:00",
"panel_name": "Leukodystrophy",
"panel_id": 298,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNP as Green List (high evidence)",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:22:27.425510+11:00",
"panel_name": "Leukodystrophy",
"panel_id": 298,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnp has been classified as Green List (High Evidence).",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:22:12.873609+11:00",
"panel_name": "Leukodystrophy",
"panel_id": 298,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CNP: Added comment: PMID 40396300 adds two affected siblings from an independent consanguineous family with a homozygous nonsense CNP variant (p.Glu99*) resulting in hypomyelinating leukodystrophy type 20.; Changed rating: GREEN; Changed publications: 40396300",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:21:31.787376+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNP as ready",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2026-01-15T16:21:31.778180+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnp has been classified as Green List (High Evidence).",
"entity_name": "CNP",
"entity_type": "gene"
}
]
}