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{
"count": 220694,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=130",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=128",
"results": [
{
"created": "2025-11-17T17:31:03.248194+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnb has been classified as Green List (High Evidence).",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:31:00.846549+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNB were changed from to filamin-related bone disorder MONDO:0019690",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:30:30.577632+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:30:01.662331+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: filamin-related bone disorder MONDO:0019690; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:27:14.989334+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:27:14.979838+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:27:12.409953+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal,MIM# 608013",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:26:50.447344+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBA were set to ",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:26:20.211434+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:25:46.074494+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GBA: Changed phenotypes: Gaucher disease, perinatal lethal,MIM# 608013",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-11-17T17:25:27.597074+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31192173; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:20:23.446224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3570",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL13 were changed from HMSN to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:20:11.152782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3569",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: KLHL13 were set to 24627108",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:19:51.643126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3568",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: KLHL13 as Green List (high evidence)",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:19:51.633093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3568",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: klhl13 has been classified as Green List (High Evidence).",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:15:45.503714+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.109",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Copied gene KLHL13 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-17T16:15:45.290089+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.109",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KLHL13 was added\ngene: KLHL13 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KLHL13 were set to PMID: 41159445\nPhenotypes for gene: KLHL13 were set to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:15:04.174148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3567",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene KLHL13 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-17T16:14:51.143132+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.152",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Copied gene KLHL13 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-17T16:14:50.984866+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.152",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KLHL13 was added\ngene: KLHL13 was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KLHL13 were set to PMID: 41159445\nPhenotypes for gene: KLHL13 were set to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:14:15.964147+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.61",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Copied gene KLHL13 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-17T16:14:15.789255+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.61",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KLHL13 was added\ngene: KLHL13 was added to Ataxia - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KLHL13 were set to PMID: 41159445\nPhenotypes for gene: KLHL13 were set to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:12:34.144487+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.426",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: KLHL13 as Green List (high evidence)",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:12:34.134482+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.426",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: klhl13 has been classified as Green List (High Evidence).",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:12:27.343352+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.425",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: KLHL13 as ready",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:12:27.331978+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.425",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: klhl13 has been classified as Red List (Low Evidence).",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T16:12:12.588617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.425",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KLHL13 was added\ngene: KLHL13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KLHL13 were set to PMID: 41159445\nPhenotypes for gene: KLHL13 were set to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related\nReview for gene: KLHL13 was set to GREEN\nAdded comment: PMID: 41159445 Akhther et al 2025 (pre-print) report 8 affected individuals from 4 unrelated famlies with hemizygous/heterozygous KLHL13 variants and an X-linked neurodevelopmental disorder with the following phenotypic features including mild-severe ID, developmental delay, macrocephaly, hypotonia, unsteady gait, facial dysmrophism and behavioural issues. Functional studies support LoF disease mechanism. \nSources: Literature",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2025-11-17T08:13:32.463551+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LGI4 as ready",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2025-11-17T08:13:32.453299+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi4 has been classified as Green List (High Evidence).",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2025-11-17T08:13:29.500601+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2025-11-17T08:13:05.539073+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LGI4 were set to ",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2025-11-17T08:12:32.062970+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2025-11-17T08:11:53.435166+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene LGI4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-16T18:07:40.412533+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from CHRNG.\nSource Literature was added to CHRNG.\nPhenotypes for gene: CHRNG were changed from Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668 to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:06:18.404076+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBE1 as ready",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:06:18.393246+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Green List (High Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:06:15.337125+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:05:41.010747+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBE1 were set to ",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:05:12.927448+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:04:44.240100+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Glycogen storage disease type IV is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease.\r\n\r\nEstablished gene-disease association.; to: Glycogen storage disease type IV is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease.\r\n\r\nEstablished gene-disease association.\r\n\r\nPerinatal neuromuscular presentation is pertinent to this panel.",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:04:12.933938+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GBE1 from panel Glycogen Storage Diseases",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-16T18:02:47.545104+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF6 as ready",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:02:47.534993+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf6 has been classified as Green List (High Evidence).",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2025-11-16T18:02:43.185005+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF6 were changed from to Popliteal pterygium syndrome 1MIM#119500",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:59:38.182865+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:59:11.842725+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:57:52.274417+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:57:52.266054+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:57:49.676190+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:57:11.607245+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ISPD were set to ",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:56:46.944365+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:56:22.466073+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. A milder phenotype, presenting with limb-girdle muscular dystrophy has also been reported with bi-allelic variants in this gene.; to: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. A milder phenotype, presenting with limb-girdle muscular dystrophy has also been reported with bi-allelic variants in this gene.\r\n\r\nContractures are part of the phenotype.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:56:06.922977+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:55:50.511651+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene ISPD from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-16T17:53:51.177423+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:53:51.168460+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:53:47.919068+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 MIM#613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 MIM#606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MIM#607155",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:53:24.237394+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FKRP were set to ",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:52:57.136047+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:52:32.666422+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11592034; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 MIM#613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 MIM#606612, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MIM#607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:47:03.872374+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKBP10 as ready",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:47:03.865074+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkbp10 has been classified as Green List (High Evidence).",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:46:53.783962+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKBP10 were changed from to Bruck syndrome 1 MIM#259450",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:46:22.157415+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKBP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:45:55.678295+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bruck syndrome 1 MIM#259450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:44:43.005694+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR2 as ready",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:44:42.994381+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Green List (High Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:44:40.104706+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:44:09.509039+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:43:40.725070+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:42:23.260292+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:42:23.249422+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:42:18.375076+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Red List (low evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:42:18.364821+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:41:54.531209+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:39:38.464682+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC3 as ready",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:39:38.454967+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:39:36.359957+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, MIM# 614678",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:39:05.334782+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC3 were set to ",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:38:44.714359+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:38:18.681383+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC3 as Red List (low evidence)",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:38:18.671325+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:37:55.074539+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: None; Publications: 23284067; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:31:09.800272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Literature was added to QSER1.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:30:38.226623+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "All sources for gene: QSER1 were removed",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:30:24.718019+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "All sources for gene: QSER1 were removed",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:29:30.883898+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QSER1 as ready",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:29:30.875752+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qser1 has been classified as Red List (Low Evidence).",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:26:59.604803+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOL10 as ready",
"entity_name": "NOL10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:26:59.594815+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nol10 has been classified as Red List (Low Evidence).",
"entity_name": "NOL10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:26:32.248482+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.271",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NOL10 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-16T17:26:31.895590+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOL10 was added\ngene: NOL10 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NOL10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOL10 were set to 41093997\nPhenotypes for gene: NOL10 were set to NOL10-related neurological disorder MONDO:0100545",
"entity_name": "NOL10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:25:23.248257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOL10 as ready",
"entity_name": "NOL10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:25:23.238303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nol10 has been classified as Red List (Low Evidence).",
"entity_name": "NOL10",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:24:22.461818+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP1 were changed from Absent IL18 and lymphopenia but no clinical disease to Inborn error of immunity, MONDO:0003778, CASP1-related; Absent IL18 and lymphopenia but no clinical disease",
"entity_name": "CASP1",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:23:32.631260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP1 were changed from Absent IL18 and lymphopenia but no clinical disease to Inborn error of immunity, MONDO:0003778, CASP1-related; Absent IL18 and lymphopenia but no clinical disease",
"entity_name": "CASP1",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:20:11.310548+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAIAP2 as ready",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:20:11.302866+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: baiap2 has been classified as Green List (High Evidence).",
"entity_name": "BAIAP2",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:17:54.931760+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC6 as ready",
"entity_name": "HDAC6",
"entity_type": "gene"
},
{
"created": "2025-11-16T17:17:54.919291+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac6 has been classified as Red List (Low Evidence).",
"entity_name": "HDAC6",
"entity_type": "gene"
}
]
}