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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=487",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=485",
"results": [
{
"created": "2024-02-23T13:51:18.966182+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2308",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TWNK as Green List (high evidence)",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:51:18.958124+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2308",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:50:43.775517+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2307",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:50:43.764313+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2307",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: twnk has been classified as Red List (Low Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:50:34.268690+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2307",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TWNK were set to PMID: 19304794\nPhenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286\nReview for gene: TWNK was set to GREEN\nAdded comment: PMID: 19304794 - reviews, notes epilepsia partialis continua occurred in 15 patients leading to generalized epileptic statuses in 13/15. Probands had biallelic variants\r\n\r\nOMIM lists Seizures (uncommon) as a phenotype for AD disease \nSources: Literature",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:10:08.741788+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2306",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TSEN34 was added\ngene: TSEN34 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia type 2C, MIM#612390\nReview for gene: TSEN34 was set to RED\nAdded comment: Gene was part of the Oliver list, no new publications \nSources: Literature",
"entity_name": "TSEN34",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:08:37.510821+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2305",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TSEN15 as ready",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:08:37.499669+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2305",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:08:21.492385+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2305",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TSEN15 as Amber List (moderate evidence)",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:08:21.484787+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2305",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2024-02-23T13:07:30.844964+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2304",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TSEN15 was added\ngene: TSEN15 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSEN15 were set to PMID: 27392077\nPhenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F MIM#617026\nReview for gene: TSEN15 was set to AMBER\nAdded comment: Few patients reported with disease for this gene\r\n\r\nPMID: 27392077 - 2/4 probands had seizures, onset <1 year old. Probands had homozygous missense, none had homs in v4 gnomAD. Functional studies support missense pathogenicity. \nSources: Literature",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2024-02-23T12:14:12.993462+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.916",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34056600; Phenotypes: Optic atrophy 9, MIM# 616289; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-02-23T12:14:00.564606+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.27",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34056600; Phenotypes: Optic atrophy 9, MIM# 616289; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-02-23T12:13:53.898502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1555",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34056600; Phenotypes: Optic atrophy 9, MIM# 616289; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:37:26.406494+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2303",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TRMT1 as Green List (high evidence)",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:37:26.395797+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2303",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trmt1 has been classified as Green List (High Evidence).",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:36:25.629614+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2302",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TRMT1 as Green List (high evidence)",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:36:25.616988+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2302",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trmt1 has been classified as Green List (High Evidence).",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:36:05.039665+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2301",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TRMT1 as ready",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:36:05.022180+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2301",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trmt1 has been classified as Red List (Low Evidence).",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:35:45.775703+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2301",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TRMT1 was added\ngene: TRMT1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMT1 were set to PMID: 31898845; 26308914; 30289604\nPhenotypes for gene: TRMT1 were set to Intellectual developmental disorder, autosomal recessive 68\tMIM#618302\nReview for gene: TRMT1 was set to GREEN\nAdded comment: Rarely reported gene\r\n\r\nSeizures (in some patients) described in OMIM.\r\n\r\nPMID: 31898845 - homozygous missense in a proband with developmental delay, ID, and epilepsy. Functional studies support pathogenicity of the missense.\r\n\r\nPMID: 26308914 - family with a homozygous PTC. The patients did not manifest any other neurological problems, ie. NO seizures.\r\n\r\nPMID: 30289604 - two families (total 4 affected) with hom PTC and canonical splice. All had seizures. \nSources: Literature",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:26:41.888022+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5703",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT1 were changed from Mental retardation, autosomal recessive 68; OMIM #618302 to Intellectual developmental disorder, autosomal recessive 68\tMIM#618302",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:25:58.612890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1555",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT1 were changed from Mental retardation, autosomal recessive 68; OMIM #618302 to Intellectual developmental disorder, autosomal recessive 68\tMIM#618302",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:16:50.704430+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2300",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TRIT1 as ready",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:16:50.691790+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2300",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Green List (High Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:16:43.078385+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2300",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TRIT1 as Green List (high evidence)",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:16:43.055956+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2300",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Green List (High Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T11:09:57.632631+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2299",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TRIT1 was added\ngene: TRIT1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIT1 were set to PMID: 36047296; 36049610\nPhenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35 MIM#617873\nReview for gene: TRIT1 was set to GREEN\nAdded comment: PMID: 36047296 - two probands with tonic–clonic seizures, as well as myoclonic seizures in patient 1. Both probands had chet PTC/missense.\r\n\r\nPMID: 36049610 - two probands with seizures. Both probands had chet PTC/missense. Reviews, seizures reported in 100% (20/20) patients, including myoclonic epilepsy and febrile convulsions \nSources: Literature",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:52:05.272279+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2298",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TRIP12 as ready",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:52:05.264380+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2298",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trip12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:51:59.831287+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2298",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TRIP12 as Amber List (moderate evidence)",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:51:59.822435+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2298",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trip12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:51:04.406750+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2297",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TRIP12 was added\ngene: TRIP12 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRIP12 were set to PMID: 36275919; 32424948\nPhenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49\tMIM#617752\nReview for gene: TRIP12 was set to AMBER\nAdded comment: Seizures described as a rare feature in OMIM\r\n\r\nPMID: 36275919 - patient with GDD, hypotonia and intermittent seizures. De novo synonymous variant with proven splice outcome found.\r\n\r\nPMID: 32424948 - reviews, epilepsy observed in 21% (5/24) patients \nSources: Literature",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:06:29.633805+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2296",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TRIO as Green List (high evidence)",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:06:29.624563+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2296",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trio has been classified as Green List (High Evidence).",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:05:53.323786+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2295",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TRIO as ready",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:05:53.311687+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2295",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trio has been classified as Red List (Low Evidence).",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-02-23T10:05:08.632334+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2295",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TRIO was added\ngene: TRIO was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TRIO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825\nReview for gene: TRIO was set to GREEN\nAdded comment: Seizures described in OMIM as a rare feature of both AR and AD disease\r\n\r\nGeneReviews: seizures described in 7/19 probands with GOF variants, and 7/29 in individuals with LOF variants. Only one in ten individuals with a TRIO missense variant in the GEFD1 domain had seizures \nSources: Literature",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:59:08.627699+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2294",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TREM2 as Green List (high evidence)",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:59:08.602897+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2294",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Green List (High Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:58:37.644082+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2294",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TREM2 as Green List (high evidence)",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:58:37.634699+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2294",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Green List (High Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:58:26.017379+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2293",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TREM2 as ready",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:58:26.004264+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2293",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Red List (Low Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:58:02.877559+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2293",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TREM2 was added\ngene: TREM2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TREM2 were set to PMID: 36820836; 24910390\nPhenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MIM#618193\nReview for gene: TREM2 was set to GREEN\nAdded comment: PMID: 36820836 - adult with repetitive seizures with a homozygous missense variant. Sibling also affected. No functional studies.\r\n\r\nPMID: 24910390 - two siblings with a hom missense, no seizures reported. Summary of literature notes epilepsy in 75% of probands.\r\n\r\nSeizures listed in OMIM \nSources: Literature",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:20:44.348175+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2292",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TPK1 as ready",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:20:44.338996+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2292",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Green List (High Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:20:08.678775+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2292",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TPK1 as Green List (high evidence)",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:20:08.668106+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2292",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Green List (High Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2024-02-23T09:19:00.273062+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2291",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TPK1 was added\ngene: TPK1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPK1 were set to PMID: 37622082\nPhenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458\nReview for gene: TPK1 was set to GREEN\nAdded comment: PMID: 37622082 \r\n- proband 1 had a single convulsive seizure after fever, rashes. Diagnosed with leigh syndrome. Was chet for a PTC and missense.\r\n- proband 2 had frequent tonic seizures, Was chet for a PTC and missense.\r\nReview of literature found seizure (10/28, 35.71%) of reported cases \nSources: Literature",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2024-02-23T05:57:22.404676+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Neuroferritinopathies to Neurodegeneration with brain iron accumulation",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-02-22T16:25:35.905214+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTL were set to 23447832; 20301320",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:20:38.285983+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTL were set to ",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:19:15.292673+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:18:23.299212+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTL as Green List (high evidence)",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:18:23.275301+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Parkinsonism can be a presenting feature of the condition",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:18:23.191695+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ftl has been classified as Green List (High Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:17:55.442873+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTL as Green List (high evidence)",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:17:55.428058+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Parkinsonism can be a presenting feature of the condition",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:17:55.311966+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ftl has been classified as Green List (High Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-02-22T16:06:24.436533+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: TAF1.",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:51:29.289378+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FBXO7 as ready",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:51:29.271595+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbxo7 has been classified as Green List (High Evidence).",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:51:18.651633+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FBXO7 were set to ",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:50:41.023452+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO7 were changed from to parkinsonian-pyramidal syndrome MONDO:0009830",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:48:56.852033+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:43:05.615456+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DNAJC6 as ready",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:43:05.605069+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnajc6 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:42:28.982255+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC6 were changed from to juvenile onset Parkinson disease 19A MONDO:0014231",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:41:50.502564+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DNAJC6 were set to ",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:41:12.696398+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.285",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:39:05.427532+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DCTN1 as ready",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:39:05.415704+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dctn1 has been classified as Green List (High Evidence).",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:29:25.398543+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DCTN1 were changed from Perry syndrome MONDO:0008201 to Perry syndrome MONDO:0008201",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:28:54.474899+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DCTN1 were changed from to Perry syndrome MONDO:0008201",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:28:25.832603+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DCTN1 were set to 20945553",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:27:56.030615+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DCTN1 were set to ",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:26:46.771664+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCTN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:26:19.331303+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCTN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:25:51.741000+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:25:23.408102+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DCTN1 as Green List (high evidence)",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:25:23.393390+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Parkinsonism is a characteristic feature of Perry syndrome",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T15:25:23.281094+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dctn1 has been classified as Green List (High Evidence).",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:53:58.951748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Orofaciodigital syndrome II , MIM# 252100",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:53:33.978345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to 21211617; 22499340; 25492405; 28123176",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:53:16.563510+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK1: Added comment: Single family with OFD phenotype.; Changed publications: 21211617, 22499340, 25492405, 28123176, 27530628; Changed phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520, Orofaciodigital syndrome II , MIM# 252100",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:51:25.520071+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK1 as ready",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:51:25.509417+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:51:20.355697+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Orofaciodigital syndrome II , MIM# 252100",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:51:08.284364+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to ",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:50:52.324146+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176, 27530628; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520, Orofaciodigital syndrome II , MIM# 252100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:48:50.320935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892 to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Orofaciodigital syndrome II , MIM# 252100; Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:48:30.693894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to 21211617; 22499340; 25492405; 28123176; 33445179",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:48:07.528335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK1: Added comment: PMID 27530628: two brothers with OFD phenotype.; Changed publications: 21211617, 22499340, 25492405, 28123176, 27530628; Changed phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520, Orofaciodigital syndrome II , MIM# 252100, Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:47:10.407609+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Orofaciodigital syndrome II , MIM# 252100",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:46:35.861969+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to 21211617; 22499340; 25492405; 28123176",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-22T13:45:41.336625+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK1: Added comment: PMID 27530628: two brothers with OFD phenotype.; Changed publications: 21211617, 22499340, 25492405, 28123176, 27530628; Changed phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520, Orofaciodigital syndrome II , MIM# 252100",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:58:39.865327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, MIM#176000; Porphyria, acute intermittent, non-erythroid variant, MIM#176000 to Porphyria, acute intermittent, MIM#176000; Porphyria, acute intermittent, non-erythroid variant, MIM#176000; Encephalopathy, porphyria-related MIM#620704; Leukoencephalopathy, porphyria-related, MIM#620711",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:58:15.538851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HMBS: Changed phenotypes: Porphyria, acute intermittent, MIM#176000, Porphyria, acute intermittent, non-erythroid variant, MIM#176000, Encephalopathy, porphyria-related MIM#620704, Leukoencephalopathy, porphyria-related, MIM#620711",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:57:54.475977+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMBS as ready",
"entity_name": "HMBS",
"entity_type": "gene"
}
]
}