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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1186",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1184",
"results": [
{
"created": "2021-10-14T18:40:52.356583+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:40:09.314626+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:38:47.336323+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP2 as ready",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:38:47.326374+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp2 has been classified as Green List (High Evidence).",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:38:45.219992+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP2 were changed from Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475; Early embryonic arrest; Multi locus imprinting disturbance in offspring",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:38:01.430491+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:37:30.321963+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PADI6 as ready",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:37:30.311279+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: padi6 has been classified as Green List (High Evidence).",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:37:18.146767+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PADI6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:26:20.130201+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP7 as ready",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:26:20.120460+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp7 has been classified as Green List (High Evidence).",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:26:15.332705+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:23:52.477111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERGIC1 were set to 28317099; 34037256",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:23:32.003918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERGIC1 as Green List (high evidence)",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:23:31.993432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ergic1 has been classified as Green List (High Evidence).",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:23:10.156892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERGIC1: Added comment: Pehlivan et al. 2019 (PMID:31230720) identified the third case of arthrogryposis in a child who harboured a previously unreported homozygous variant (c.782G>A; p.Gly261Asp) in this gene. Parents were heterozygous carriers. Functional studies were not performed.; Changed rating: GREEN; Changed publications: 28317099, 34037256, 31230720",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:21:04.734289+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERGIC1 were set to 28317099, 34037256; 31230720",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:20:37.557751+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERGIC1 were set to PMID: 28317099, 34037256",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:20:00.749267+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERGIC1 as Green List (high evidence)",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:20:00.734847+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ergic1 has been classified as Green List (High Evidence).",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:14:28.210583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4203",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability\nReview for gene: NSRP1 was set to AMBER\nAdded comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. \nSources: Literature",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:14:18.089637+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.61",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability\nReview for gene: NSRP1 was set to AMBER\nAdded comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. \nSources: Literature",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:14:14.890619+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.16",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability\nReview for gene: NSRP1 was set to AMBER\nAdded comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. \nSources: Literature",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:14:09.358265+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1316",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability\nReview for gene: NSRP1 was set to AMBER\nAdded comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. \nSources: Expert list, Literature",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:12:30.344456+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.10",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: NLRP2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30877238, 28317850, 29574422; Phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring; Mode of inheritance: None",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-10-14T17:56:13.170987+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.10",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29693651, 33583041, 329228291, 33221824, 27545678; Phenotypes: Pre-implantation embryonic lethality 2 MIM#617234, Multi locus imprinting disturbance in offspring, Recurrent hydatiform mole; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:26:19.837737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRD as ready",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:26:19.827800+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Green List (High Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:26:14.692127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRD as Green List (high evidence)",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:26:14.681531+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Green List (High Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:25:46.915797+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRD was added\ngene: GABRD was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GABRD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRD were set to 15115768; 34633442\nPhenotypes for gene: GABRD were set to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060\nReview for gene: GABRD was set to GREEN\nAdded comment: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.\r\n\r\nPMID 34633442: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms. \nSources: Literature",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:24:19.822653+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRD as ready",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:24:19.810690+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Green List (High Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:24:15.812673+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRD as Green List (high evidence)",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:24:15.802948+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Green List (High Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:23:36.619878+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRD was added\ngene: GABRD was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GABRD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRD were set to 15115768; 34633442\nPhenotypes for gene: GABRD were set to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060\nReview for gene: GABRD was set to GREEN\nAdded comment: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.\r\n\r\nPMID 34633442: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms. \nSources: Literature",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:23:11.235405+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRD were changed from Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:22:41.734556+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRD were changed from Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:21:55.741607+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRD were changed from Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:21:10.048729+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRD were set to 15115768",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:20:32.549082+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRD as Green List (high evidence)",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:20:32.539305+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Green List (High Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:19:50.976773+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.; to: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:19:40.864866+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABRD: Added comment: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.; Changed rating: GREEN; Changed publications: 15115768, 34633442; Changed phenotypes: Intellectual disability, Epilepsy, Susceptibility to epilepsy, MIM#613060",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:19:34.522558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRD were changed from Susceptibility to epilepsy, MIM#613060 to Susceptibility to epilepsy, MIM#613060",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:19:19.480350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRD were set to 15115768",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:18:43.013045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRD as Green List (high evidence)",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:18:42.996106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Green List (High Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:18:26.345088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.; to: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:18:12.546476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABRD: Added comment: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.; Changed rating: GREEN; Changed publications: 15115768, 34633442; Changed phenotypes: Intellectual disability, Epilepsy, Susceptibility to epilepsy, MIM#613060",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2021-10-14T08:59:31.984113+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.10",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: NLRP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16462743, 28561018, 29574422, 19246479, 22315435, 19066229, 23722513; Phenotypes: Biparental complete hydatiform mole, Hydatiform mole, recurrent 1 MIM#231090, Multi locus imprinting disturbance in offspring, reproductive loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2021-10-14T01:59:43.643685+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.300",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230720; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERGIC1",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:15:57.628861+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CXorf56 as ready",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:15:57.615097+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxorf56 has been classified as Green List (High Evidence).",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:15:52.141950+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CXorf56 as Green List (high evidence)",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:15:52.131413+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxorf56 has been classified as Green List (High Evidence).",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:14:27.913973+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CXorf56 was added\ngene: CXorf56 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CXorf56 were set to 29374277; 31822863\nPhenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013\nReview for gene: CXorf56 was set to GREEN\nAdded comment: Four families reported, seizures in males, who tend to be more severe. \nSources: Literature",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:10:37.649953+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CWF19L1 as ready",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:10:37.636668+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cwf19l1 has been classified as Red List (Low Evidence).",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:10:29.447930+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CWF19L1 was added\ngene: CWF19L1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CWF19L1 were set to 33012273\nPhenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, MIM#\t616127\nReview for gene: CWF19L1 was set to RED\nAdded comment: Well established gene-disease association, but only single report of epilepsy. \nSources: Literature",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:01:53.693546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP5 were changed from Early embryonic arrest to Early embryonic arrest; Multi locus imprinting disturbance in offspring",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:01:33.737445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP5 were set to 32222962; 31829238; 30877238",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:01:09.593514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:00:48.558181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLRP5 as Green List (high evidence)",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:00:48.547693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp5 has been classified as Green List (High Evidence).",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T14:00:19.125219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NLRP5: Added comment: 'Maternal effect gene'\r\nPart of the subcortical maternal complex \r\n\r\nReport of five mothers carrying either monoallelic or biallelic variants in NLRP5, who had both unaffected offspring and offspring with BWS-MLID (Doherty 2015). Report of one family where the mother carried biallelic variants in NLRP5, had one offspring with BWS, one unaffected offspring and multiple miscarriages (Sparago 2019). \r\n\r\nReports of at least three unrelated individuals with recurrent early embryonic arrest carrying biallelic variants in NLRP5. Functional work suggesting protein degradation in affected human cell lines (Mu 2019, Xu 2020).; Changed rating: GREEN; Changed publications: 32222962, 31829238, 30877238, 26323243, 34440388; Changed phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T13:57:57.380377+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP5 as ready",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T13:57:57.359825+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp5 has been classified as Green List (High Evidence).",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T13:57:50.699811+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP5 were set to 26323243; 31201414; 31829238",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T13:57:31.816968+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:49:42.932518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:49:13.492545+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556; Mode of inheritance: None",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:48:59.020085+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:48:19.697526+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNPO2: Changed phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:48:07.569267+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:47:35.183559+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNPO2: Changed phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:47:16.598384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:46:49.885272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556; Mode of inheritance: None",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-10-13T10:55:36.206235+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.8",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "edited their review of gene: NLRP5: Added comment: Most reported individuals with recurrent early embryonic arrest or mothers of children with MLID have been found to carry biallelic pathogenic variants in this gene. A minority have only been found to carry a heterozygous variant only. A relationship between zygosity and severity of the condition has not been definitively established.\r\n\r\nAs is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history. \r\n\r\nFunctional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.; Changed phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-10-12T20:08:49.664171+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2021-10-12T20:05:12.424182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mono-allelic variants and CAKUT: Multiple families reported, zebrafish model has multiple congenital anomalies including of the GU tract. Established gene-disease association.\r\n\r\nBi-allelic variants and HSP: Three families reported, but all had same intragenic deletion/insertion, suggestive of founder effect.; to: Mono-allelic variants and CAKUT: Multiple families reported, zebrafish model has multiple congenital anomalies including of the GU tract. Disputed gene-disease association as original variants present at relatively high pop frequency as per review by Ain Roesley.\r\n\r\nBi-allelic variants and HSP: Three families reported, but all had same intragenic deletion/insertion, suggestive of founder effect.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-10-12T20:04:21.651058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-10-12T20:04:17.192405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSTYK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-10-12T15:13:51.793540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9364",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: 23862974; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805, Spastic paraplegia 23, MIM# 270750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:29:57.912180+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT1A as ready",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:29:57.898924+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:28:22.265181+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPT1A as Amber List (moderate evidence)",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:28:22.255023+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:27:52.006886+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT1A was added\ngene: CPT1A was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPT1A were set to 12189492; 33565078\nPhenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, MIM# 255120\nReview for gene: CPT1A was set to AMBER\nAdded comment: Well established gene-disease association.\r\n\r\nCPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycaemia usually occurring after fasting or illness. Onset is in infancy or early childhood.\r\n\r\nCase report of presentation with seizures. \nSources: Expert Review",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:19:55.769437+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD3 as ready",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:19:55.757954+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd3 has been classified as Green List (High Evidence).",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:19:51.898781+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD3 were changed from to Epilepsy; Intellectual disability; Posterior fossa abnormalities",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:19:15.056119+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCTD3 were set to ",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:18:44.202730+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:17:57.193599+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCTD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29406573; Phenotypes: Epilepsy, Intellectual disability, Posterior fossa abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:17:44.711740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD3 as ready",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:17:44.701233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd3 has been classified as Green List (High Evidence).",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:17:10.648262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD3 were changed from to Epilepsy; Intellectual disability; Posterior fossa abnormalities",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:16:20.575284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCTD3 were set to ",
"entity_name": "KCTD3",
"entity_type": "gene"
},
{
"created": "2021-10-12T13:15:51.537078+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD3 as ready",
"entity_name": "KCTD3",
"entity_type": "gene"
}
]
}