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{
"count": 220694,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=128",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=126",
"results": [
{
"created": "2025-11-19T16:45:21.169943+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:45:18.679795+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:44:42.494760+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:44:20.040741+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX6 as Amber List (moderate evidence)",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:44:20.032944+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:43:51.143344+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:42:25.855690+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX5 as ready",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:42:25.845882+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:42:18.912170+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:41:48.470756+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:41:20.648029+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX5 as Amber List (moderate evidence)",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:41:20.638117+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:40:58.091129+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:56:14.864817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3576",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: STARD9 as Amber List (moderate evidence)",
"entity_name": "STARD9",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:56:14.856515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3576",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: stard9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STARD9",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:49:36.911390+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Copied gene RPS6KC1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-19T14:49:36.556300+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:48:56.837734+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.103",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Copied gene RPS6KC1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-19T14:48:56.672517+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.103",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:48:26.257497+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.272",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Copied gene RPS6KC1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-19T14:48:25.983393+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.272",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:47:35.568602+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.569",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Copied gene RPS6KC1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-19T14:47:35.312937+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.569",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Callosome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:45:14.630514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3575",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: RPS6KC1 as Green List (high evidence)",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:45:14.623311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3575",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: rps6kc1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T14:36:54.324800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3574",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related\nReview for gene: RPS6KC1 was set to GREEN\nAdded comment: PMID: 41130203 | Bi-allelic RPS6KC1 variants identified in 13 individuals from 8 independent families. Phenotypic manifestations included neurodevelopmental delay, epilepsy, hypotonia, spastic paraplegia, brain white matter loss, and dysmorphic features.\r\nFunctional studies including a HAP1 cellular model and a Drosophila melanogaster model recapitulated the defects observed in individuals with RPS6KC1 variants. \nSources: Literature",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T10:53:08.250822+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK4 were changed from DOCK4-related neurodevelopmental disorder (MONDO:0060490) to Neurodevelopmental disorder, MONDO:0700092, DOCK4-related",
"entity_name": "DOCK4",
"entity_type": "gene"
},
{
"created": "2025-11-19T10:52:23.845371+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DOCK4: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DOCK4-related",
"entity_name": "DOCK4",
"entity_type": "gene"
},
{
"created": "2025-11-19T10:52:05.359735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK4 were changed from DOCK4-related neurodevelopmental disorder (MONDO:0060490) to Neurodevelopmental disorder, MONDO:0700092, DOCK4-related",
"entity_name": "DOCK4",
"entity_type": "gene"
},
{
"created": "2025-11-19T10:29:54.022588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOCK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, DOCK4-related; Mode of inheritance: None",
"entity_name": "DOCK4",
"entity_type": "gene"
},
{
"created": "2025-11-19T08:50:38.920758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3572",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: STARD9 was added\ngene: STARD9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STARD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STARD9 were set to 41137852; 28777490\nPhenotypes for gene: STARD9 were set to Syndromic disorder (MONDO:0002254), STARD9-related\nReview for gene: STARD9 was set to AMBER\nAdded comment: STARD9 enables microtubule binding activity, motor activity and is involved in spindle assembly.\r\n\r\nPMID: 41137852 | 1x cHet individual with early-onset febrile seizures followed by atypical absence seizures. The two missense identified, p.(Leu694Phe) and p.(Met3409Val), have 5 hets and 125 hets respectively in gnomAD v4.\r\n\r\nPMID: 28777490 | 1x hom individual with a frameshift variant, p.(L3920fs*38). Patient had severe intellectual disability, epilepsy, dysmorphic features, acquired microcephaly, and blindness. Patient cells showed mitotic spindle assembly defects. \nSources: Literature",
"entity_name": "STARD9",
"entity_type": "gene"
},
{
"created": "2025-11-19T08:26:04.343730+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092), LRRC7-related to Intellectual developmental disorder, autosomal dominant 77, MIM# 621415",
"entity_name": "LRRC7",
"entity_type": "gene"
},
{
"created": "2025-11-19T08:25:49.884015+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LRRC7: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 77, MIM# 621415",
"entity_name": "LRRC7",
"entity_type": "gene"
},
{
"created": "2025-11-19T08:25:20.740773+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092), LRRC7-related to Intellectual developmental disorder, autosomal dominant 77, MIM# 621415",
"entity_name": "LRRC7",
"entity_type": "gene"
},
{
"created": "2025-11-19T08:24:50.061631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LRRC7: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 77, MIM# 621415",
"entity_name": "LRRC7",
"entity_type": "gene"
},
{
"created": "2025-11-19T08:24:34.387827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092), LRRC7-related to Intellectual developmental disorder, autosomal dominant 77, MIM# 621415",
"entity_name": "LRRC7",
"entity_type": "gene"
},
{
"created": "2025-11-19T08:24:10.184403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LRRC7: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 77, MIM# 621415",
"entity_name": "LRRC7",
"entity_type": "gene"
},
{
"created": "2025-11-18T21:00:24.964072+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN54 as ready",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2025-11-18T21:00:24.956490+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Green List (High Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2025-11-18T21:00:21.630019+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470; Pontocerebellar hypoplasia type 4, MIM# 225753",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:59:52.147065+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN54 were set to ",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:59:21.997548+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:58:50.305949+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nIndividuals homozygous for the common TSEN54 missense mutation A307S are reported to have a phenotype consistent with PCH2, whereas those who were compound heterozygous for A307S and a different TSEN54 mutation have a more severe phenotype consistent with PCH4.; to: Well established gene-disease association.\r\n\r\nIndividuals homozygous for the common TSEN54 missense mutation A307S are reported to have a phenotype consistent with PCH2, whereas those who were compound heterozygous for A307S and a different TSEN54 mutation have a more severe phenotype consistent with PCH4.\r\n\r\nMultiple contractures are part of the phenotype.",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:58:35.679091+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSEN54: Changed publications: 18711368, 20956791, 20952379, 20301773",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:57:50.327709+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene TSEN54 from panel Cerebellar and Pontocerebellar Hypoplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-18T20:56:00.071616+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX3 as ready",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:56:00.054147+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:55:55.778621+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:55:32.071418+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:55:10.276224+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX3 as Amber List (moderate evidence)",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:55:10.265622+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:54:43.629835+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:53:03.170463+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:53:03.159696+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:52:59.509403+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:52:29.129535+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:52:06.499512+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX26 as Amber List (moderate evidence)",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:52:06.492224+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:51:38.836777+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:49:33.805814+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX2 as ready",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:49:33.799051+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:49:30.264114+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX2 were changed from to Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:49:05.055697+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:34:31.933813+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX2 as Amber List (moderate evidence)",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:34:31.923944+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:34:05.176044+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:31:59.393012+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A3 as ready",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:31:59.382736+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Green List (High Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:30:39.067601+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A3 were changed from to Bethlem myopathy, MIM#158810; Ullrich congenital muscular dystrophy, MIM#254090",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:30:15.433704+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL6A3 were set to ",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:29:49.101835+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:29:19.775576+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene. \nSources: Expert list; to: Well established gene-disease associations, contractures are a feature of both.\r\nSources: Expert list",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2025-11-18T20:28:47.305299+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene COL6A3 from panel Myopathy - paediatric onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-18T18:38:05.484350+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A1 as ready",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:38:05.475953+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a1 has been classified as Green List (High Evidence).",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:38:03.013014+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A1 were changed from to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:37:41.066062+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL6A1 were set to ",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:37:12.575079+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:36:46.330504+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene COL6A1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-18T18:36:22.911597+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:35:31.634815+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A2 as ready",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:35:31.622521+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a2 has been classified as Green List (High Evidence).",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:35:25.425195+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A2 were changed from to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:34:57.052908+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL6A2 were set to ",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:34:36.641760+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2025-11-18T18:34:03.108507+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene COL6A2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-18T18:33:54.120416+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:49:14.466918+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX19 as ready",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:49:14.457495+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex19 has been classified as Green List (High Evidence).",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:49:11.888339+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:48:45.575660+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX19 were set to ",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:48:16.984791+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:47:47.777592+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 36931687; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:45:27.780219+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX16 as ready",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:45:27.769105+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:45:25.527576+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:44:56.765175+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:44:30.190264+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX16 as Amber List (moderate evidence)",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:44:30.172752+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-11-18T13:44:07.046117+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX16",
"entity_type": "gene"
}
]
}