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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1026",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1024",
"results": [
{
"created": "2022-01-27T08:56:30.066384+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.306",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRAT1 as Green List (high evidence)",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:30.054719+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.306",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brat1 has been classified as Green List (High Evidence).",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:06.765396+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546\nPhenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056\nReview for gene: BRAT1 was set to GREEN\nAdded comment: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:55:29.598174+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.305",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546\nPhenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056\nReview for gene: BRAT1 was set to GREEN\nAdded comment: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:50.697339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX7 as ready",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:50.686693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Red List (Low Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:42.994175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX7 as Red List (low evidence)",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:42.983386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Red List (Low Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:30.565966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Progressive disorder, onset in infancy.",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:40:23.465291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH2 as ready",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:40:23.451132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah2 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:40:19.792409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH2 were changed from Hydrops; Complex cardiopathy to Hydrops; complex congenital heart disease; heterotaxy",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:47:40.378427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSPAN7 as ready",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:47:40.365678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspan7 has been classified as Red List (Low Evidence).",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:47:34.949886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSPAN7 were changed from MENTAL RETARDATION X-LINKED TYPE 58 to Intellectual developmental disorder, X-linked 58, MIM# 300210",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:47:18.591553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM# 300210; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:44:11.573768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TRAPPC2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:43:27.161672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TPP1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:42:10.189951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOGARAM1 as ready",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:42:10.178611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Red List (Low Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:41:44.783377+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TMPRSS6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:40:58.720280+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2812",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TNFRSF11B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:40:07.455547+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2811",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TNFRSF13B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:38:10.776266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEGF8 as ready",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:38:10.765624+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: megf8 has been classified as Green List (High Evidence).",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:36:21.224296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEGF8 were changed from CARPENTER SYNDROME to Carpenter syndrome 2, MIM #614976",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:36:04.839934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEGF8 were set to ",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:35:51.196357+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is described in this condition. \nSources: Expert list; to: Craniosynostosis and polysyndactyly.\r\n\r\n\r\nSources: Expert list",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:49.880249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2C as ready",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:49.868609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2c has been classified as Green List (High Evidence).",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:45.518631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2C were changed from MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:31.788704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEF2C were set to ",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:12.018036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEF2C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:00.657036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MEF2C.",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:33:27.012957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:33:27.000835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:33:23.799775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from LUJAN-FRYNS SYNDROME; OPITZ-KAVEGGIA SYNDROME to Lujan-Fryns syndrome, MIM#\t309520; Opitz-Kaveggia syndrome, MIM#\t305450",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:32:39.867560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED12 were set to ",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:46.703174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:46.691519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Green List (High Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:43.358787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from MICROCEPHALY PRIMARY TYPE 1 to Microcephaly 1, primary, autosomal recessive, MIM# 251200",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:30.509185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCPH1 were set to ",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:16.340239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established primary micorcephaly gene.\r\n\r\nSources: Literature; to: Well established primary microcephaly gene.\r\n\r\nSources: Literature",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:07.307407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported as part of a CDH cohort. \nSources: Literature; to: Well established primary micorcephaly gene.\r\n\r\nSources: Literature",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:30:48.770512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCPH1: Changed rating: GREEN; Changed phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:30:15.957265+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCOLN1 as ready",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:30:15.944674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Green List (High Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:30:09.629315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from MUCOLIPIDOSIS IV to Mucolipidosis IV, MIM# 252650; MONDO:0009653",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:29:57.858255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCOLN1 were set to ",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:29:42.905913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCOLN1: Added comment: Prenatal presentations with brain abnormalities reported.; Changed rating: GREEN; Changed publications: 33963976",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:28:48.171245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCOLN1: Changed rating: RED",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:27:51.693441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MATN3 as ready",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:27:51.683072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: matn3 has been classified as Green List (High Evidence).",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:27:47.984710+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MATN3 were changed from Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728); Epiphyseal dysplasia, multiple, 5 (MIM#607078) to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:27:28.222707+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MATN3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:27:10.158809+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:25:19.821435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MASP1 as ready",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:25:19.809500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp1 has been classified as Green List (High Evidence).",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:25:15.770388+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MASP1 were changed from 3MC SYNDROME 1 to 3MC syndrome 1, MIM# 257920; MONDO:0009770",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:25:03.581240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MASP1 were set to ",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:24:26.580951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPRE2 as ready",
"entity_name": "MAPRE2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:24:26.568434+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapre2 has been classified as Green List (High Evidence).",
"entity_name": "MAPRE2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:24:23.084438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAPRE2 were changed from Symmetric circumferential skin creases, congenital, 2, 616734 to Symmetric circumferential skin creases, congenital, 2, MIM#616734",
"entity_name": "MAPRE2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:24:07.642244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAPRE2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MAPRE2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:23:54.042120+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is part of the phenotype, more severe in those with bi-allelic variants. \nSources: Expert list; to: Cleft palate and microcephaly reported.\r\n\r\nSources: Expert list",
"entity_name": "MAPRE2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:18:36.625059+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K2 as ready",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:18:36.614108+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k2 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:18:32.869558+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP2K2 were changed from CARDIOFACIOCUTANEOUS SYNDROME to Cardiofaciocutaneous syndrome 4, MIM# 615280",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:18:18.726873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP2K2 were set to ",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:18:07.082792+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:17:57.129939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP2K2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:17:29.260457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K1 as ready",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:17:29.249807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:17:25.679699+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP2K1 were changed from CARDIOFACIOCUTANEOUS SYNDROME to Cardiofaciocutaneous syndrome 3, MIM# 615279",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:17:13.429330+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP2K1 were set to ",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:17:00.763818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:16:49.909411+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP2K1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:16:09.679436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGEL2 as ready",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:16:09.669146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:16:05.762080+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAGEL2 were changed from ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547; Schaaf-Yang syndrome to Schaaf-Yang syndrome, MIM# 615547",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:15:50.829015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAGEL2 were set to 26365340; 27195816",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:15:00.335234+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAB21L2 as ready",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:15:00.322668+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mab21l2 has been classified as Green List (High Evidence).",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:14:55.933152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAB21L2 were changed from MICROPHTHALMIA, SYNDROMIC 14 to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:14:42.731614+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAB21L2 were set to ",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:13:58.421278+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LZTR1 as ready",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:13:58.410214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztr1 has been classified as Green List (High Evidence).",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:13:54.501107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LZTR1 were changed from Noonan syndrome 10, 616564; Fetal hydrops to Noonan syndrome 10, MIM#616564; Noonan syndrome 2, MIM#605275; Fetal hydrops",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:13:38.421063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: LZTR1 was changed from to Other",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:13:29.330101+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LZTR1 were set to ",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:12:51.484194+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LZTFL1 as ready",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:12:51.474029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztfl1 has been classified as Green List (High Evidence).",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:12:48.043157+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LZTFL1 were changed from Bardet-Biedl syndrome 17 615994 to Bardet-Biedl syndrome 17, MIM# 615994",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:12:35.786959+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LZTFL1 were set to ",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:12:16.378743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:11:38.035804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYST as ready",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:11:38.025285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Red List (Low Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:11:33.789091+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from CHEDIAK-HIGASHI SYNDROME to Chediak-Higashi syndrome, MIM#214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:11:20.838359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LYST as Red List (low evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:11:20.825485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Red List (Low Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
}
]
}