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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1545",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1543",
"results": [
{
"created": "2020-10-10T18:16:46.823746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHX38 were set to ",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:16:26.409321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHX38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:16:10.110573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX38 as Amber List (moderate evidence)",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:16:10.097251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx38 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:15:50.842450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHX38: Rating: AMBER; Mode of pathogenicity: None; Publications: 24737827, 30208423; Phenotypes: Retinitis pigmentosa 84, MIM# 618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:14:37.261186+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX38 as ready",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:14:37.229456+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx38 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:14:34.282459+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX38 were changed from Retinitis pigmentosa 84, 618220 to Retinitis pigmentosa 84, MIM#618220",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:14:23.082821+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHX38 were set to ",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:14:00.613185+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX38 as Amber List (moderate evidence)",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:14:00.604839+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx38 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:13:50.232600+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHX38: Rating: AMBER; Mode of pathogenicity: None; Publications: 24737827, 30208423; Phenotypes: Retinitis pigmentosa 84, MIM# 618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:09:37.992551+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CTNNA1: Changed rating: GREEN",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2020-10-10T18:09:31.868551+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNNA1: Rating: ; Mode of pathogenicity: None; Publications: 26691986; Phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:53:32.827738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCT2 as ready",
"entity_name": "CCT2",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:53:32.801569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cct2 has been classified as Red List (Low Evidence).",
"entity_name": "CCT2",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:53:23.197918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCT2 was added\ngene: CCT2 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: CCT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCT2 were set to 27645772; 29450543\nPhenotypes for gene: CCT2 were set to Leber's congenital amaurosis\nReview for gene: CCT2 was set to RED\nAdded comment: Single family reported with compound het missense variants, functional data, including animal model. \nSources: NHS GMS",
"entity_name": "CCT2",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:52:05.029751+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCT2 as ready",
"entity_name": "CCT2",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:52:05.022269+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cct2 has been classified as Red List (Low Evidence).",
"entity_name": "CCT2",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:51:56.979602+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCT2 was added\ngene: CCT2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: NHS GMS\nMode of inheritance for gene: CCT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCT2 were set to 27645772; 29450543\nPhenotypes for gene: CCT2 were set to Leber's congenital amaurosis\nReview for gene: CCT2 was set to RED\nAdded comment: Single family reported with compound het missense variants, functional data, including animal model. \nSources: NHS GMS",
"entity_name": "CCT2",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:43:47.681569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA4 as ready",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:43:47.670912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca4 has been classified as Red List (Low Evidence).",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:43:41.222633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA4 were changed from to Retinitis pigmentosa 17, MIM# 600852",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:43:24.038598+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CA4 were set to ",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:42:44.019957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:42:28.156962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CA4 as Red List (low evidence)",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:42:28.150124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca4 has been classified as Red List (Low Evidence).",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T17:42:11.653536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CA4: Rating: RED; Mode of pathogenicity: None; Publications: 15563508, 15090652, 17652713, 16260723; Phenotypes: Retinitis pigmentosa 17, MIM# 600852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:24:55.807677+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIRE as ready",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:24:55.800412+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:24:48.509155+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AIRE as Green List (high evidence)",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:24:48.498462+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:24:39.765687+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIRE was added\ngene: AIRE was added to Syndromic Retinopathy. Sources: NHS GMS\nMode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AIRE were set to 27606815\nPhenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#\t240300\nReview for gene: AIRE was set to GREEN\nAdded comment: Retinopathy is a feature: peripheral pigmentary changes are noted in all cases, ranging from isolated patchy atrophy of the retinal pigment epithelium to a retinitis pigmentosa-like fundus. Macular atrophy with vision loss is found in most. The severity of ophthalmic findings is uncorrelated to that of systemic manifestations. An autoimmune origin with specific autoantibodies directed against corneal and/or retinal autoantigens is the main mechanism believed to be responsible for the ocular manifestations of APS1. \nSources: NHS GMS",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:11:48.584805+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:11:48.577284+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:11:42.880804+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, MIM#264800",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:11:28.351300+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-10T16:11:17.021983+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:40:40.197626+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS5 as ready",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:40:40.188265+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs5 has been classified as Green List (High Evidence).",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:40:37.679531+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:40:10.706382+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS5 were set to ",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:39:43.409940+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:39:14.294559+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:37:03.614647+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS4 as ready",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:37:03.607279+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs4 has been classified as Green List (High Evidence).",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:36:53.737249+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:36:16.398534+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS4 were set to ",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:35:48.151179+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-10-10T12:35:19.568074+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:44:49.231396+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS41 as ready",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:44:49.223557+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Red List (Low Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:44:39.551926+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS41 was added\ngene: VPS41 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS41 were set to 32808683\nPhenotypes for gene: VPS41 were set to Dystonia; intellectual disability\nReview for gene: VPS41 was set to RED\nAdded comment: Single individual reported with homozygous canonical splice site variant resulting in exon 7 skipping, and global developmental delay and generalized dystonia. He attained a few words and voluntary limb movements but never sat unsupported. He had pale optic discs and an axonal neuropathy. From 6 years of age, his condition began to deteriorate, with reduced motor abilities and alertness. An MRI of the brain showed atrophy of the superior cerebellar vermis and slimming of the posterior limb of the corpus callosum. VPS41 is component of the HOPS complex and other genes in the complex have been implicated in movement disorders. \nSources: Literature",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:42:54.725258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS41 as ready",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:42:54.717312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Red List (Low Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:42:43.276878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS41 was added\ngene: VPS41 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS41 were set to 32808683\nPhenotypes for gene: VPS41 were set to Dystonia; intellectual disability\nReview for gene: VPS41 was set to RED\nAdded comment: Single individual reported with homozygous canonical splice site variant resulting in exon 7 skipping, and global developmental delay and generalized dystonia. He attained a few words and voluntary limb movements but never sat unsupported. He had pale optic discs and an axonal neuropathy. From 6 years of age, his condition began to deteriorate, with reduced motor abilities and alertness. An MRI of the brain showed atrophy of the superior cerebellar vermis and slimming of the posterior limb of the corpus callosum. VPS41 is component of the HOPS complex and other genes in the complex have been implicated in movement disorders. \nSources: Literature",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:41:28.277144+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS41 as ready",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:41:28.269349+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Red List (Low Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:41:20.170138+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS41 was added\ngene: VPS41 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS41 were set to 32808683\nPhenotypes for gene: VPS41 were set to Dystonia; intellectual disability\nReview for gene: VPS41 was set to RED\nAdded comment: Single individual reported with homozygous canonical splice site variant resulting in exon 7 skipping, and global developmental delay and generalized dystonia. He attained a few words and voluntary limb movements but never sat unsupported. He had pale optic discs and an axonal neuropathy. From 6 years of age, his condition began to deteriorate, with reduced motor abilities and alertness. An MRI of the brain showed atrophy of the superior cerebellar vermis and slimming of the posterior limb of the corpus callosum. VPS41 is component of the HOPS complex and other genes in the complex have been implicated in movement disorders. \nSources: Literature",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:35:17.719925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS16: Changed rating: GREEN",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:35:06.753539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS16 as ready",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:35:06.739323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps16 has been classified as Green List (High Evidence).",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:34:58.712023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS16 as Green List (high evidence)",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:34:58.701116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps16 has been classified as Green List (High Evidence).",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:34:42.046102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS16 was added\ngene: VPS16 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VPS16 were set to 32808683\nPhenotypes for gene: VPS16 were set to Dystonia\nAdded comment: 18 individuals reported with high-impact variants in VPS16 and a progressive early onset dystonia (median age 12 years, range 3–50 years), with prominent oromandibular, bulbar, cervical, and upper limb involvement. Progressive generalization ensued, although most remained ambulant, and only a minority (16%) lost the ability to walk in adulthood. Additional clinical features of mild to moderate intellectual disability and neuropsychiatric symptoms were present in approximately one‐third. In 4 individuals, magnetic resonance imaging (MRI) showed bilateral and symmetrical hypointensity of the globi pallidi and sometimes also the midbrain and dentate nuclei, suggestive of iron deposition. Mild generalized cerebral atrophy was also apparent in 4 individuals. \nSources: Literature",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:33:08.916088+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS16 as ready",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:33:08.893863+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps16 has been classified as Green List (High Evidence).",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:32:57.570511+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS16 as Green List (high evidence)",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:32:57.559734+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps16 has been classified as Green List (High Evidence).",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-10T11:32:45.936837+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS16 was added\ngene: VPS16 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VPS16 were set to 32808683\nPhenotypes for gene: VPS16 were set to Dystonia\nReview for gene: VPS16 was set to GREEN\nAdded comment: 18 individuals reported with high-impact variants in VPS16 and a progressive early onset dystonia (median age 12 years, range 3–50 years), with prominent oromandibular, bulbar, cervical, and upper limb involvement. Progressive generalization ensued, although most remained ambulant, and only a minority (16%) lost the ability to walk in adulthood.\r\n\r\nAdditional clinical features of mild to moderate intellectual disability and neuropsychiatric symptoms were present in approximately one‐third. In 4 individuals, magnetic resonance imaging (MRI) showed bilateral and symmetrical hypointensity of the globi pallidi and sometimes also the midbrain and dentate nuclei, suggestive of iron deposition. Mild generalized cerebral atrophy was also apparent in 4 individuals. \nSources: Literature",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2020-10-09T22:26:12.881876+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS2 as ready",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-10-09T22:26:12.870251+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs2 has been classified as Green List (High Evidence).",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-10-09T22:26:09.439103+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-10-09T22:25:41.723097+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS2 were set to ",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-10-09T22:25:13.503264+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-10-09T22:24:44.726923+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567139, 16823392, 28143435; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:48:50.012684+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFH as ready",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:48:49.996802+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfh has been classified as Green List (High Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:48:47.306895+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFH were changed from {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700 to Basal laminar drusen, 126700",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:48:33.885500+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFH were set to ",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:47:13.281388+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PRDM13 was changed from to Other",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:47:05.241723+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRDM13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:46:24.353546+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBP3 as ready",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:46:24.343406+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:46:21.654417+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBP3 were changed from ?Retinitis pigmentosa 66, 615233 to Retinitis pigmentosa 66, 615233",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:46:14.345904+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBP3 were set to ",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:45:48.170471+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSCN2 as ready",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:45:48.153483+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fscn2 has been classified as Red List (Low Evidence).",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:45:44.723629+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FSCN2 were set to ",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:45:23.022256+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITPNM3 as ready",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:45:23.006481+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitpnm3 has been classified as Red List (Low Evidence).",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:45:07.340086+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-09T21:43:44.992836+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RS1 as ready",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:43:44.985516+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rs1 has been classified as Green List (High Evidence).",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:43:29.574218+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RS1 were changed from Developmental macular and foveal dystrophy (males with foveal schisis) to Retinoschisis, MIM#312700; Developmental macular and foveal dystrophy (males with foveal schisis)",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:43:17.174785+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RS1 were set to ",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:43:06.518075+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:42:53.561820+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15932525, 23453514, 23847049; Phenotypes: Retinoschisis, MIM#312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:40:45.875359+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD8 as ready",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:40:45.865003+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
}
]
}