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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1085",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1083",
"results": [
{
"created": "2021-12-14T09:44:27.164366+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-12-14T09:44:02.203357+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies.; to: Three families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies.\r\n\r\nTwo of the families had the same founder variant.",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-12-14T09:43:43.152680+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTC1: Changed rating: AMBER",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:08:09.569230+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCND2 as ready",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:08:09.559154+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd2 has been classified as Green List (High Evidence).",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:08:04.697662+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCND2 as Green List (high evidence)",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:08:04.686530+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd2 has been classified as Green List (High Evidence).",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:07:34.076549+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCND2 was added\ngene: KCND2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCND2 were set to 24501278; 16934482; 29581270; 34245260\nPhenotypes for gene: KCND2 were set to Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250\nReview for gene: KCND2 was set to GREEN\nAdded comment: 6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.\r\n\r\nPMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M. \r\n\r\nPMID: 29581270 - Lin et al, 2018 - performed functional work that shows V404M enhances inactivation of channels that have not yet opened and dramatically impairs the inactivation of channels that have opened.\r\n\r\nPMID:16934482 - Singh et al, 2006 - reports a patient with cognative impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant. \nSources: Literature",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:06:51.841683+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCND2 as ready",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:06:51.831016+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd2 has been classified as Green List (High Evidence).",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:06:43.478498+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCND2 as Green List (high evidence)",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:06:43.467942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd2 has been classified as Green List (High Evidence).",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:06:05.196903+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCND2 was added\ngene: KCND2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCND2 were set to 24501278; 16934482; 29581270; 34245260\nPhenotypes for gene: KCND2 were set to Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250\nReview for gene: KCND2 was set to GREEN\nAdded comment: 6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.\r\n\r\nPMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M. \r\n\r\nPMID: 29581270 - Lin et al, 2018 - performed functional work that shows V404M enhances inactivation of channels that have not yet opened and dramatically impairs the inactivation of channels that have opened.\r\n\r\nPMID:16934482 - Singh et al, 2006 - reports a patient with cognative impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant. \r\nSources: Literature \nSources: Literature",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:04:27.646238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCND2 as ready",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:04:27.636330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd2 has been classified as Green List (High Evidence).",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:03:58.628629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCND2 were changed from global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:03:05.896931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCND2 as Green List (high evidence)",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:03:05.887118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd2 has been classified as Green List (High Evidence).",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:01:47.346404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELN as ready",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:01:47.335761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eln has been classified as Green List (High Evidence).",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:01:42.674494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELN were changed from ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS to Cutis laxa 123700; Supravalvar aortic stenosis 185500",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2021-12-13T21:01:32.637338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELN were set to ",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:59:44.823752+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: EIF4A3.",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:59:25.197016+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: EIF4A3.",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:59:09.610751+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: EIF4A3.",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:58:49.194181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: EIF4A3.",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:58:31.022663+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: EIF4A3.",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:58:16.029764+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: EIF4A3.",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:57:29.199908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4A3 as ready",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:57:29.183533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a3 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:57:25.353765+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A3 were changed from RICHIERI-COSTA-PEREIRA SYNDROME to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:57:13.672651+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF4A3 were set to ",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:56:33.738248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B3 as ready",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:56:33.728988+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:56:27.573050+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B3 were changed from vanishing white matter disease 603896 to Leukoencephalopathy with vanishing white matter, MIM#603896",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:56:01.212140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B3 as Amber List (moderate evidence)",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:56:01.187761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:55:47.259466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive neurodegenerative disorder rather than ID.; to: Progressive neurodegenerative disorder, variable age of onset.",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:55:30.502864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF2B3: Changed rating: AMBER",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:52:48.410510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EYA1 as ready",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:52:48.400315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eya1 has been classified as Green List (High Evidence).",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:52:40.436989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EYA1 were changed from to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:52:21.788186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EYA1 were set to ",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:52:03.509770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EYA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:51:44.488884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:50:08.880031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EYA1 as ready",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:50:08.869837+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eya1 has been classified as Green List (High Evidence).",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:50:04.817089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EYA1 were changed from BRANCHIOOTORENAL SYNDROME TYPE 1 to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:49:35.306587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EYA1 were set to ",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T20:49:15.216125+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EYA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:23:55.160424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1296",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867, 263442; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:16:27.578195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:16:27.567922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:16:21.668593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from COCKAYNE SYNDROME TYPE A to Cockayne syndrome, type A, MIM# 216400",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:16:09.684319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC8 were set to ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:15:36.963664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC3 as ready",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:15:36.954595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:15:32.863415+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC3 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia, type 1B 614678",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:15:20.942833+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC3 were set to ",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:14:23.920686+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAT4 as ready",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:14:23.909903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Green List (High Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:14:19.812587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:14:07.593981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAT4 were set to ",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:13:23.937323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXL4 as ready",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:13:23.928252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl4 has been classified as Green List (High Evidence).",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:13:13.445853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:12:49.465645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXL4 were set to ",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:12:28.287416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:11:33.982224+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:11:33.972459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:11:30.011808+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B; TRICHOTHIODYSTROPHY PHOTOSENSITIVE to Xeroderma pigmentosum, group B 61, MIM#0651; Trichothiodystrophy 2, photosensitive, MIM# 616390",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:10:48.402417+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC3 were set to ",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:09:58.348908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF8 as ready",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:09:58.338045+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf8 has been classified as Green List (High Evidence).",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:09:54.462641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia 612702 to Holoprosencephaly; MONDO:0016296",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:09:40.569615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF8 were set to 20463092; 18596921; 24280688",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:09:19.930517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:09:06.815237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27363716, 29584859; Phenotypes: Holoprosencephaly, MONDO:0016296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:07:20.169893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKBP14 as ready",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:07:20.159275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkbp14 has been classified as Green List (High Evidence).",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:07:15.797772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKBP14 were changed from EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:06:57.885021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FKBP14 were set to ",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:06:43.582339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:04:00.590100+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE1 as ready",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:04:00.578936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe1 has been classified as Green List (High Evidence).",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:03:49.850036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE1 were changed from BAMFORTH-LAZARUS SYNDROME to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:03:30.608893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE1 were set to ",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:59.759742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXF1 as ready",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:59.748647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf1 has been classified as Green List (High Evidence).",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:51.666508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXF1 were changed from ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:36.466446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXF1 were set to ",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:30.631443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALE as ready",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:30.620941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gale has been classified as Green List (High Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:23.878484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALK1 as ready",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:23.864541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galk1 has been classified as Green List (High Evidence).",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:02:16.293012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALE were changed from to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:01:52.051947+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:01:46.721635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1278",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.; to: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported.",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:01:09.613385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXG1 as ready",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:01:09.602332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Green List (High Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
}
]
}