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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1937",
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"results": [
{
"created": "2020-02-07T12:56:29.814499+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAX1 as ready",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:56:29.802523+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hax1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:56:11.987769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:55:42.475159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAX1 were changed from to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:55:11.919809+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:54:15.412928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAX1 as Amber List (moderate evidence)",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:54:15.402021+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hax1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:53:33.039477+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:50:21.995316+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:50:19.797598+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HARS2 as ready",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:50:19.785296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Red List (Low Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:49:52.783884+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:49:22.994642+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:48:55.422351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HARS2 were set to ",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:47:53.309861+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:47:13.623229+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HARS2 as Red List (low evidence)",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:47:13.612782+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Red List (Low Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:46:32.722157+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:33:00.009276+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF3C3 as ready",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:32:59.994056+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf3c3 has been classified as Green List (High Evidence).",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:32:44.267010+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Global developmental delay; Intellectual disability; Seizures",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:32:12.230799+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:31:34.811396+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF3C3 were set to ",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:30:57.432181+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTF3C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:30:13.089710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:48:46.133300+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF11 as ready",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:48:46.122833+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif11 has been classified as Green List (High Evidence).",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:46:36.144886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MIM#152950",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:46:00.805517+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF11 were set to ",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:45:33.469223+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:43:08.707018+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSS as ready",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:43:08.696590+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:43:00.047354+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency, MIM# 266130 to Glutathione synthetase deficiency, MIM# 266130",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:42:26.343487+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:41:52.540998+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:41:07.557572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:12:08.242108+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2D as ready",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:12:08.229044+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2d has been classified as Green List (High Evidence).",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:11:57.763971+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2D were changed from to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:11:25.777950+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2D were set to ",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:10:50.446754+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GRIN2D was changed from to Other",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:10:15.060684+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:09:35.129191+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27616483, 30280376; Phenotypes: Epileptic encephalopathy, early infantile, 46, MIM# 617162, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:08:25.517450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2D as ready",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:08:25.506502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2d has been classified as Green List (High Evidence).",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:08:10.008201+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIN2D as Green List (high evidence)",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:08:09.982472+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2d has been classified as Green List (High Evidence).",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:07:02.186524+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN2D was added\ngene: GRIN2D was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2D were set to 27616483; 30280376\nPhenotypes for gene: GRIN2D were set to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability\nMode of pathogenicity for gene: GRIN2D was set to Other\nReview for gene: GRIN2D was set to GREEN\ngene: GRIN2D was marked as current diagnostic\nAdded comment: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism. \nSources: Expert list",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2020-02-07T10:03:19.613712+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2006",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27212378, 24281367; Phenotypes: 1. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (OMIM), 2. Familial exudative vitreoretinopathy (FEVR) (PMID: 27212378); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:59:46.584749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIA1 as ready",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:59:46.574025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria1 has been classified as Green List (High Evidence).",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:59:35.529833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIA1 as Green List (high evidence)",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:59:35.518644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria1 has been classified as Green List (High Evidence).",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:59:11.461894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIA1 was added\ngene: GRIA1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178\nPhenotypes for gene: GRIA1 were set to Intellectual disability; autism\nReview for gene: GRIA1 was set to GREEN\nAdded comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant. \nSources: Expert list",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:56:58.549371+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIA1 as ready",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:56:58.538536+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria1 has been classified as Green List (High Evidence).",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:53:30.411968+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIA1 as Green List (high evidence)",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:53:30.387378+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria1 has been classified as Green List (High Evidence).",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T09:41:13.573776+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIA1 was added\ngene: GRIA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178\nPhenotypes for gene: GRIA1 were set to Intellectual disability; autism\nReview for gene: GRIA1 was set to GREEN\nAdded comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant. \nSources: Expert list",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:56:29.874985+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPHN were set to ",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:54:51.376317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPHN as Amber List (moderate evidence)",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:54:51.365692+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gphn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:54:02.137065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: GPHN.",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:53:50.086222+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPHN: Added comment: Only two families reported with bi-allelic variants. Also note reports of mono-allelic deletions associated with ID/autism/SZ.; Changed rating: AMBER; Changed publications: 22040219, 26613940, 24561070, 23393157; Changed phenotypes: Molybdenum cofactor deficiency C, MIM#615501, intellectual disability; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:22:37.182487+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GORAB as Amber List (moderate evidence)",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:22:37.171894+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Amber List (Moderate Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:21:46.281920+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GORAB: Added comment: Reviewed against assessment by GEL curation team: agree ID is not a predominant feature of this condition.; Changed rating: AMBER",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-02-07T07:15:23.539277+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNAQ.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2020-02-06T22:22:36.380420+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AFG3L2 as Red List (low evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-02-06T22:22:36.369324+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Red List (Low Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-02-06T22:18:13.616180+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-06T22:14:41.475789+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MEN1 as Green List (high evidence)",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-06T22:14:41.470768+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene requested by endocrinologists at RMH to be on this panel",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-06T22:14:41.431728+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: men1 has been classified as Green List (High Evidence).",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-06T22:11:56.599479+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to Hypercalcaemia. Sources: Expert list\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MEN1 were set to 31797261; 14985373\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100\nReview for gene: MEN1 was set to GREEN\nAdded comment: Hypercalcaemia is a prominent feature of familial hyperparathyroidism that has been caused by MEN1 in at least 5 cases. \nSources: Expert list",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:49:23.570056+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Leukodystrophy - paediatric_RMH to Leukodystrophy - paediatric",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-06T21:41:40.106154+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Ataxia - paediatric_RMH to Ataxia - paediatric\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-06T21:15:04.165027+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARS2 as ready",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:15:04.153103+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:10:15.219041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RCC1L as ready",
"entity_name": "RCC1L",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:10:15.208511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcc1l has been classified as Red List (Low Evidence).",
"entity_name": "RCC1L",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:10:02.236990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RCC1L as Red List (low evidence)",
"entity_name": "RCC1L",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:10:02.223138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcc1l has been classified as Red List (Low Evidence).",
"entity_name": "RCC1L",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:08:39.334585+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13A as ready",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:08:39.323676+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13a has been classified as Green List (High Evidence).",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:08:27.920335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS13A as Green List (high evidence)",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:08:27.895972+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13a has been classified as Green List (High Evidence).",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T21:03:18.115014+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-06T20:55:13.138726+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PINK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:54:13.800932+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRKN as ready",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:54:13.790386+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prkn has been classified as Green List (High Evidence).",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:41:05.789058+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2 MIM#600116",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:36:52.171130+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:32:22.370479+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SPG11 were changed from to Spastic paraplegia 11, autosomal recessive MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Amyotrophic lateral sclerosis 5, juvenile MIM#602099",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:31:04.252729+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:29:31.168587+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13A were changed from to Choreoacanthocytosis MIM#200150",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:29:02.506863+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:24:25.264816+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:23:33.269441+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: VPS35 were changed from to {Parkinson disease 17} MIM#614203; Cognitive decline",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:20:41.374469+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: VAPB were changed from to Amyotrophic lateral sclerosis 8 MIM#608627; Spinal muscular atrophy, late-onset, Finkel type MIM#182980",
"entity_name": "VAPB",
"entity_type": "gene"
}
]
}