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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=496",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=494",
"results": [
{
"created": "2024-01-25T12:31:14.678436+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2174",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: INTS8 as ready",
"entity_name": "INTS8",
"entity_type": "gene"
},
{
"created": "2024-01-25T12:31:14.670308+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2174",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ints8 has been classified as Red List (Low Evidence).",
"entity_name": "INTS8",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:38:13.762720+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKLR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:38:02.979721+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PKLR: Added comment: Only single family for the mono-allelic condition.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:32:36.689998+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRELD1 as ready",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:32:36.680552+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Green List (High Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:32:18.647463+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRELD1 as Green List (high evidence)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:32:18.634047+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Green List (High Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:24:26.070362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEIOB were changed from Spermatogenic failure 22 MIM#617706; primary ovarian insufficiency to Spermatogenic failure 22 MIM#617706; Premature ovarian failure 23, MIM# 620686",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:24:13.109549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEIOB were set to 34794894; 24068956; 31000419; 28206990",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:23:42.997400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEIOB: Rating: GREEN; Mode of pathogenicity: None; Publications: 35991565, 34392356, 31000419; Phenotypes: Premature ovarian failure 23, MIM# 620686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:23:24.369571+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2174",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: INTS8 was added\ngene: INTS8 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572\nReview for gene: INTS8 was set to RED\nAdded comment: No published evidence associating this gene and epilepsy \nSources: Literature",
"entity_name": "INTS8",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:20:56.723203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2173",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: IBA57 as ready",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:20:56.712817+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2173",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Red List (Low Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2024-01-25T11:20:47.194191+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2173",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: IBA57 was added\ngene: IBA57 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IBA57 were set to PMID: 30258207\nPhenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3 MIM#615330\nReview for gene: IBA57 was set to RED\nAdded comment: PMID: 30258207 - girl with developmental regression and spastic quadriplegia. Brain MRI at 8 months showed cerebral white matter involvement, periventricular rarefaction, and corpus callosum involvement. She developed febrile seizures at the age of 18 months. \r\nChet missense pair found, no functional studies to support pathogenicity \nSources: Literature",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2024-01-25T09:54:12.363428+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2172",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: IARS2 as ready",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2024-01-25T09:54:12.337583+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2172",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: iars2 has been classified as Red List (Low Evidence).",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2024-01-25T09:40:38.385638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2172",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: IARS2 was added\ngene: IARS2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS2 were set to PMID: 30041933\nPhenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia\tMIM#616007\nReview for gene: IARS2 was set to RED\nAdded comment: PMID: 30041933 - Japanese sibling pair presented with Leigh syndrome and infantile spasms. The siblings were identified with compound heterozygous missense mutations p.[(Phe227Ser)];[(Arg817His)]. No functional studies to support the pathogenicity of the missense variants \nSources: Literature",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:44:35.975320+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OPA3 as ready",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:44:35.962395+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:44:27.446528+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OPA3 as Green List (high evidence)",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:44:27.435212+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:40:57.387730+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to Gastrointestinal neuromuscular disease. Sources: Literature\nMode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OPA3 were set to 31119193\nPhenotypes for gene: OPA3 were set to Optic atrophy 3 MONDO:0008133\nMode of pathogenicity for gene: OPA3 was set to Other\nReview for gene: OPA3 was set to GREEN\ngene: OPA3 was marked as current diagnostic\nAdded comment: 11 of the 12 affected individuals from 3 families with OPA3 missense (p.Met8Thr, & p.Gln105Glu) had possible or confirmed gastrointestinal dysmotility symptoms as a feature of the condition. Haploinsufficiency is not expected to be the mechanism of disease. Gain of function or dominant negative effect have been suggested mechanisms of disease. \nSources: Literature",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:38:46.862415+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.915",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OPA3 as ready",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:38:46.845464+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.915",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:36:15.242128+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OPA3 as ready",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:36:15.226803+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:36:00.130271+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OPA3 as Green List (high evidence)",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:36:00.110038+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:35:44.282632+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OPA3 were set to 31119193; 28050599\nPhenotypes for gene: OPA3 were set to Optic atrophy 3 MONDO:0008133\nMode of pathogenicity for gene: OPA3 was set to Other\nReview for gene: OPA3 was set to GREEN\ngene: OPA3 was marked as current diagnostic\nAdded comment: Peripheral neuropathy has been reported in multiple individuals with ADOA associated with OPA3. Haploinsufficiency is not expected to be the mechanism of disease. Gain of function or dominant negative effect have been suggested mechanisms of disease.\r\nPMID: 31119193 - 9 of the 12 affected individuals from 3 families with OPA3 missense (p.Met8Thr, & p.Gln105Glu) had a possible or confirmed peripheral neuropathy. Was presenting feature in a single case.\r\nPMID: 28050599 - de novo c.235C>G p.(Leu79Val) identified in a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. \nSources: Literature",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:29:30.323605+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.915",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:20:40.670098+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.914",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: OPA3 were set to ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:18:46.270613+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.913",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:18:06.657688+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OPA3 as ready",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:18:06.643850+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Red List (Low Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:16:53.063622+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OPA3 as Red List (low evidence)",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-24T14:16:53.050191+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Red List (Low Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:29:05.510818+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX16 as ready",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:29:05.499284+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx16 has been classified as Green List (High Evidence).",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:27:43.264650+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX16 as Green List (high evidence)",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:27:43.254778+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx16 has been classified as Green List (High Evidence).",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:26:55.883474+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOHH as ready",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:26:55.874687+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dohh has been classified as Green List (High Evidence).",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:26:51.023748+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOHH as Green List (high evidence)",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:26:51.011323+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dohh has been classified as Green List (High Evidence).",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:25:27.848545+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECHS1 as ready",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:25:27.833758+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:25:23.565538+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; Leigh syndrome MONDO:0009723; cerebral palsy MONDO:0006497; paroxysmal dystonia MONDO:0016058 to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:24:35.961669+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ECHS1 as Green List (high evidence)",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:24:35.948126+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:23:32.944567+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EED as ready",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:23:32.930481+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eed has been classified as Red List (Low Evidence).",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:23:18.067817+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EED as Red List (low evidence)",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:23:18.037477+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eed has been classified as Red List (Low Evidence).",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:21:28.716438+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECM1 were changed from Urbach-Wiethe disease, MIM# 247100 to Urbach-Wiethe disease, MIM# 247100",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:21:22.968790+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECM1 as ready",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:21:22.951859+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecm1 has been classified as Green List (High Evidence).",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:21:06.359278+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECM1 were changed from to Urbach-Wiethe disease, MIM# 247100",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:20:31.829695+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ECM1 as Green List (high evidence)",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:20:31.816247+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecm1 has been classified as Green List (High Evidence).",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:19:50.503092+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Urbach-Wiethe disease, MIM# 247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:18:28.731035+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:18:28.718125+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:18:23.479061+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KARS were changed from to Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:17:55.072920+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KARS were set to ",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:17:11.955944+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:00:48.557400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEPRO were set to 26633546; 29620724; 31250547",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:00:15.562070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEPRO as Green List (high evidence)",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T19:00:15.547994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nepro has been classified as Green List (High Evidence).",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T18:59:56.499659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 37294112; Phenotypes: Anauxetic dysplasia 3, MIM618853; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T18:58:59.196222+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEPRO as ready",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T18:58:59.185052+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nepro has been classified as Green List (High Evidence).",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T18:58:13.223451+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEPRO were set to 26633546; 29620724; 31250547",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T18:57:43.358842+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEPRO as Green List (high evidence)",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T18:57:43.342891+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nepro has been classified as Green List (High Evidence).",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-23T16:58:51.304956+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAM3 as ready",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2024-01-23T16:58:51.295507+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jam3 has been classified as Green List (High Evidence).",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2024-01-23T16:58:46.558727+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAM3 as Green List (high evidence)",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2024-01-23T16:58:46.545602+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jam3 has been classified as Green List (High Evidence).",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2024-01-23T16:58:38.728163+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAM3 was added\ngene: JAM3 was added to Stroke. Sources: Expert Review\nMode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAM3 were set to 23255084; 21109224\nPhenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730\nReview for gene: JAM3 was set to GREEN\nAdded comment: Autosomal recessive disorder with a distinctive phenotype comprising haemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy.\r\n\r\nFour unrelated families reported. \nSources: Expert Review",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2024-01-23T13:42:23.959457+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.80",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: COL12A1 were set to 28306229; 31273343; 24334604",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2024-01-23T13:41:53.059947+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.79",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: COL12A1: Rating: ; Mode of pathogenicity: None; Publications: 37458870, 37353357; Phenotypes: ; Mode of inheritance: None",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2024-01-23T12:31:19.958473+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF213 as ready",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2024-01-23T12:31:19.944231+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf213 has been classified as Green List (High Evidence).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2024-01-23T12:30:36.997039+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF213 were changed from {Moyamoya disease 2, susceptibility to} to susceptibility to Moyamoya disease 2, (MIM# 607151)",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2024-01-23T12:29:18.879003+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF213 were set to 21048783",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2024-01-23T12:29:02.767413+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF213 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2024-01-23T12:27:10.170752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF213 were set to ",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2024-01-23T12:26:33.931658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF213 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:08:16.086545+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYOCD as Amber List (moderate evidence)",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:08:16.071146+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myocd has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:07:46.720690+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYOCD: Added comment: Single family with bi-allelic disease reported, which seems to be more severe expression of the mono-allelic disease, hence the Amber (rather than Red) rating.; Changed rating: AMBER",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:04:30.166270+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1A were changed from Acrofacial dysostosis, Cincinnati type MIM#616462 to Acrofacial dysostosis, Cincinnati type MIM#616462; Leukodystrophy, hypomyelinating, 27, MIM# 620675",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:02:17.705800+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Further two unrelated patients reported.; to: Further two unrelated patients reported but overall two homozygous missense variants only.",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:02:03.992361+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR1A: Changed rating: AMBER",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:01:45.571578+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1A as Amber List (moderate evidence)",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:01:45.554067+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:00:13.873868+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1A as Green List (high evidence)",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T18:00:13.856197+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Green List (High Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:59:24.795855+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR1A: Added comment: Further two unrelated patients reported.; Changed rating: GREEN; Changed publications: 36917474",
"entity_name": "POLR1A",
"entity_type": "gene"
}
]
}