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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=42",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=40",
"results": [
{
"created": "2026-02-05T18:16:18.911752+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.404",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: CEP152: Added comment: Not skeletal dysplasia; Changed rating: RED",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:16:16.252060+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.404",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: CEP152",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:15:46.499730+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.404",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CEP152 from panel Microcephalic Primordial Dwarfism and Slender bone dysplasias",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T18:15:46.335830+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.404",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CEP152 was added\ngene: CEP152 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP152 were set to 21131973\nPhenotypes for gene: CEP152 were set to Seckel syndrome 5, MIM# 613823; MONDO:0013443",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:15:08.931177+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.404",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ATR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T18:15:08.758445+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.404",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATR were set to 12640452; 19620979; 30199583; 23111928\nPhenotypes for gene: ATR were set to Seckel syndrome 1, MIM# 210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:10:06.621045+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: FLNB as ready",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:10:06.613704+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: flnb has been classified as Green List (High Evidence).",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:10:00.358595+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FLNB from panel Multiple joint dislocations and laxity",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T18:10:00.143711+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FLNB was added\ngene: FLNB was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,NHS GMS,Expert Review Green\nMode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FLNB were set to Atelosteogenesis, type I 108720; Atelosteogenesis, type III 108721; Larsen syndrome 150250; Spondylocarpotarsal synostosis syndrome 272460; Boomerang dysplasia 112310",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:09:35.803416+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.104",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: GZF1 as ready",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:09:35.793933+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.104",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gzf1 has been classified as Green List (High Evidence).",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:08:42.172549+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.104",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GZF1 from panel Multiple joint dislocations and laxity",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T18:08:41.947890+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.104",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GZF1 was added\ngene: GZF1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature\nMode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GZF1 were set to 28475863; 33009817\nPhenotypes for gene: GZF1 were set to Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:06:17.401799+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.103",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: B3GAT3 as ready",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:06:17.377098+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.103",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: b3gat3 has been classified as Green List (High Evidence).",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2026-02-05T18:05:40.213808+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.103",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene B3GAT3 from panel Multiple joint dislocations and laxity",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T18:05:40.050834+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.103",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,Radboud University Medical Center, Nijmegen,NHS GMS,Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl)",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:52:19.417970+11:00",
"panel_name": "Skeletal Ciliopathies",
"panel_id": 179,
"panel_version": "1.20",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy to Skeletal Ciliopathies",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T17:51:22.652264+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.19",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T17:33:44.438793+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PCYT1A as ready",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:33:44.431360+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pcyt1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:33:05.100105+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.202",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PCYT1A from panel Lipodystrophy_Lipoatrophy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T17:33:05.033275+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PCYT1A was added\ngene: PCYT1A was added to Monogenic Diabetes. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT1A were set to 24889630\nPhenotypes for gene: PCYT1A were set to Lipodystrophy, congenital generalized, type 5, MIM# 620680",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:31:02.003601+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:31:01.992637+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:30:56.145755+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PLA2G16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:30:06.281307+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.201",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PLA2G16 from panel Lipodystrophy_Lipoatrophy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T17:30:06.210905+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PLA2G16 was added\ngene: PLA2G16 was added to Monogenic Diabetes. Sources: Expert Review Green,Literature\nnew gene name tags were added to gene: PLA2G16.\nMode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLA2G16 were set to PMID: 37919452\nPhenotypes for gene: PLA2G16 were set to Lipodystrophy, familial partial, type 9, MIM# 620683",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:26:55.308548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4253",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: AKT2",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:25:17.294025+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: AKT2 as Red List (low evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:25:17.287472+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Red List (Low Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:24:47.121172+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: AKT2 as Red List (low evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:24:47.114373+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Red List (Low Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:24:28.986678+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: AKT2 as Red List (low evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:24:28.975338+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Red List (Low Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T17:24:03.951140+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: AKT2: Added comment: ClinGen LIMITED (Jan 2026)\r\nhttps://search.clinicalgenome.org/CCID:009131; Changed rating: RED; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:31:55.922056+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.200",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: MT-TL1 as ready",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:31:55.909769+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.200",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:31:46.114162+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.200",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: MT-TL1 were set to 9323566; 12221518; 20471262; 23220830; 23273904; 24338029; 23582502; 11271374; 23258140",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:31:17.043757+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.199",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14749274, 16019720; Phenotypes: MELAS syndrome, MONDO:0010789, Maternally-inherited diabetes and deafness, MONDO:0010785; Mode of inheritance: MITOCHONDRIAL",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:16:38.925811+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.199",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene MT-TL1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T16:16:38.861194+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.199",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MT-TL1 was added\ngene: MT-TL1 was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TL1.\nMode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL\nPublications for gene: MT-TL1 were set to 9323566; 12221518; 20471262; 23220830; 23273904; 24338029; 23582502; 11271374; 23258140\nPhenotypes for gene: MT-TL1 were set to Mitochondrial disease (MONDO:0044970), MT-TL1-related",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:10:40.216184+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NFKB1 as ready",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:10:40.208989+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nfkb1 has been classified as Red List (Low Evidence).",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:10:37.233714+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NFKB1 as Red List (low evidence)",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:10:37.227020+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nfkb1 has been classified as Red List (Low Evidence).",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:10:27.714090+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.197",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NFKB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 12, MONDO:0014697; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:10:08.595016+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.197",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:09:59.525365+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.197",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: NFKB1",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:09:18.251488+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.197",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NFKB1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T16:09:18.190477+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.197",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NFKB1 was added\ngene: NFKB1 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFKB1 were set to 26279205; 32278790; 27022143; 7834752\nPhenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:07:21.580630+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:07:21.570390+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Green List (High Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:07:06.342063+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene MFN2 from panel Monogenic Diabetes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T16:07:06.161010+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Lipodystrophy_Lipoatrophy. Sources: Expert Review Green,ClinGen\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFN2 were set to 8458227, 26114802, 26085578, 37162328, 28414270, 30158064\nPhenotypes for gene: MFN2 were set to Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:06:13.967767+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.196",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:06:13.960237+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.196",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Green List (High Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:06:01.033697+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.196",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MFN2 as Green List (high evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:06:01.026684+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.196",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Green List (High Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:05:52.086514+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.195",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Monogenic Diabetes. Sources: ClinGen\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFN2 were set to 8458227, 26114802, 26085578, 37162328, 28414270, 30158064\nPhenotypes for gene: MFN2 were set to Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153\nReview for gene: MFN2 was set to GREEN\nAdded comment: ClinGen DEFINITIVE (Sep 2025)\r\nhttps://search.clinicalgenome.org/CCID:008970\r\n\r\nAll reported affected individuals carry p.Arg707Trp on one allele (they are either homozygous or compound het) - gnomAD v4.1 FAF 0.05440% \nSources: ClinGen",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:01:43.767050+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ITCH as ready",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:01:43.756846+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: itch has been classified as Green List (High Evidence).",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:01:41.815444+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: ITCH were set to 20170897; 31091003; 32356405",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T16:01:20.531021+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.193",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170897,30705142,33894394; Phenotypes: Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:58:25.550944+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.193",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:57:26.678429+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.193",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen DEFINITIVE (Oct 2025)\r\nhttps://search.clinicalgenome.org/CCID:009048; to: ClinGen DEFINITIVE (Oct 2025)\r\nhttps://search.clinicalgenome.org/CCID:009048\r\n\r\n3 individuals from 3 unrelated families with type 1 diabetes (elevated islet-cell antibodies, GAD antibodies, and insulin autoantibodies) and multisystem autoimmune disease, dysmorphic features, and developmental abnormalities.",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:53:45.467628+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.193",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ITCH from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T15:53:45.399481+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.193",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ITCH was added\ngene: ITCH was added to Monogenic Diabetes. Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services\nfounder tags were added to gene: ITCH.\nMode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITCH were set to 20170897; 31091003; 32356405\nPhenotypes for gene: ITCH were set to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:53:24.185921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4253",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ITCH were changed from Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:52:45.366727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4252",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:52:13.893653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4251",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene ITCH from panel Disorders of immune dysregulation",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T15:50:48.542050+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ITCH were changed from to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:50:15.339253+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:49:56.828036+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:49:51.622581+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:49:48.381623+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:49:41.849946+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: ITCH",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:49:32.578768+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITCH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:49:12.940932+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:48:55.313696+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ITCH as ready",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:48:55.305218+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: itch has been classified as Green List (High Evidence).",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:47:06.715972+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.192",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CTLA4 as ready",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:47:06.709022+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.192",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ctla4 has been classified as Green List (High Evidence).",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:46:57.041842+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.192",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CTLA4: Rating: ; Mode of pathogenicity: None; Publications: 33788257; Phenotypes: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, MONDO:0014493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:45:35.287122+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.192",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CTLA4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T15:45:35.199759+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.192",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CTLA4 was added\ngene: CTLA4 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CTLA4 were set to Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:41:11.838223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4250",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen DEFINITIVE (Mar 2021)\r\nhttps://search.clinicalgenome.org/CCID:005622\r\n\r\nAt least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.\r\n\r\nNote: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.; to: ClinGen MODERATE (Mar 2021)\r\nhttps://search.clinicalgenome.org/CCID:005622\r\n\r\nAt least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.\r\n\r\nNote: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:40:42.208575+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.191",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen DEFINITIVE (Mar 2021)\r\nhttps://search.clinicalgenome.org/CCID:005622\r\n\r\nAt least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.\r\n\r\nNote: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.; to: ClinGen MODERATE (Mar 2021)\r\nhttps://search.clinicalgenome.org/CCID:005622\r\n\r\nAt least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.\r\n\r\nNote: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:38:48.502214+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.191",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242; 20573748; 12200761; 30259503",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:35:01.576292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4250",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6, MIM#606394; Retinitis pigmentosa, retinopathy, permanent neonatal diabetes to Monogenic diabetes, MONDO:0015967; Retinitis pigmentosa",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:34:33.584836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4249",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: NEUROD1 were set to 25477324; 25684977; 22784109; 29521454",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:33:47.887289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4248",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene NEUROD1 from panel Monogenic Diabetes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T15:33:04.053975+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.190",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROD1 were changed from maturity-onset diabetes of the young type 6 MONDO:0011668 to Monogenic diabetes, MONDO:0015967",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:32:56.333640+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.189",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:32:18.578748+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29521454, 20573748, 12200761, 30259503; Phenotypes: Monogenic diabetes, MONDO:0015967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:23:39.000892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4247",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: CAV1 were set to 18237401; 25898808; 11739396; 18211975; 27717241; 26176221; 33836561; 33776068; 32502478; 22474227; 28768485",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:20:04.043278+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: CAV1 were set to 18237401; 25898808; 11739396; 18211975; 27717241; 26176221",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:19:01.164217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4246",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene CAV1 from panel Monogenic Diabetes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T15:18:48.628630+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.36",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene CAV1 from panel Monogenic Diabetes",
"entity_name": null,
"entity_type": null
}
]
}