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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1794",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1792",
"results": [
{
"created": "2020-05-21T16:14:05.888587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2849",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CX3CR1 as Red List (low evidence)",
"entity_name": "CX3CR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:14:05.873951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2849",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cx3cr1 has been classified as Red List (Low Evidence).",
"entity_name": "CX3CR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:13:48.269523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CX3CR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coronary artery disease, resistance to}, MIM# 607339, {Macular degeneration, age-related, 12} 613784, {Rapid progression to AIDS from HIV1 infection} 609423; Mode of inheritance: None",
"entity_name": "CX3CR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:13:41.037527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2848",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CX3CR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CX3CR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:08:56.560951+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCC1 as ready",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:08:56.544421+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:08:33.096712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCC1 as ready",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:08:33.087247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:05:31.390440+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2B as ready",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:05:31.378348+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:05:28.424669+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from to GRIN2B-related neurodevelopmental disorder",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:04:56.452260+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2B were set to ",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:04:32.062438+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:03:41.624718+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB11 as ready",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:03:41.611599+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Green List (High Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:03:07.131627+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB11 were changed from to Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR; Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:01:57.749072+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB11 were set to 23141890",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:01:37.238834+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB11 were set to ",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:53:17.186013+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CNNM4 as ready",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:53:17.174885+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cnnm4 has been classified as Green List (High Evidence).",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:53:12.453986+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CNNM4 as Green List (high evidence)",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:53:12.441438+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cnnm4 has been classified as Green List (High Evidence).",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:52:14.096690+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CNNM4 was added\ngene: CNNM4 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNNM4 were set to 30705057\nPhenotypes for gene: CNNM4 were set to Jalili syndrome MIM#217080",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:47:47.369880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2848",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLCC1 as Amber List (moderate evidence)",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:47:47.360887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2848",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:47:24.562790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2847",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLCC1 was added\ngene: CLCC1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CLCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLCC1 were set to 30157172\nPhenotypes for gene: CLCC1 were set to Retinitis pigmentosa 32\nReview for gene: CLCC1 was set to AMBER\nAdded comment: A presumptive Pakastani founder mutation (c.75C>A, p.D25E) was identified in 8 consanguineous arRP families. A knockout zebrafish model and a Clcc1 +/- mouse model had a supporting retinal phenotype. \nSources: Expert list",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:45:50.421238+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLCC1 as Amber List (moderate evidence)",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:45:50.411896+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:37:31.035171+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30157172; Phenotypes: retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:12:06.261223+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BBIP1 as ready",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:12:06.249921+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:11:57.230801+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BBIP1 as Amber List (moderate evidence)",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:11:57.222159+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T15:11:44.621714+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBIP1 was added\ngene: BBIP1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBIP1 were set to 24026985\nPhenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18 MIM#615995\nReview for gene: BBIP1 was set to AMBER\nAdded comment: Single case with homozygous stopgain that has retinitis pigmentosa has a feature of the syndromic phenotype. A null zebrafish model also has a retinal phenotype. \nSources: Expert list",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:56:47.404470+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:55:31.153995+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN1 as ready",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:55:31.141622+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Green List (High Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:55:25.062676+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from to GRIN1-related neurodevelopmental disorder",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:54:53.712911+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN1 were set to ",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:54:24.023605+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:53:15.043891+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGRIP1 as ready",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:53:15.034869+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1 has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:53:11.679378+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPGRIP1 as Green List (high evidence)",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:53:11.667571+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1 has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:51:49.469996+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: ATXN7.",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:50:26.600707+10:00",
"panel_name": "Retinal Disorders",
"panel_id": 3124,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Autosomal Recessive/X-Linked Retinitis Pigmentosa; Syndromic Retinopathy; Macular Dystrophy/Stargardt Disease; Autosomal Dominant Retinitis Pigmentosa; Usher Syndrome; Vitreoretinopathy; Stickler Syndrome; Achromatopsia; Congenital Stationary Night Blindness; Cone-rod Dystrophy",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-21T14:50:09.329124+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATF6 as ready",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:50:09.320301+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atf6 has been classified as Green List (High Evidence).",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:50:04.748810+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATF6 as Green List (high evidence)",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:50:04.737547+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atf6 has been classified as Green List (High Evidence).",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:49:54.582355+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATF6 was added\ngene: ATF6 was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATF6 were set to 26063662; 26029869\nPhenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517\nReview for gene: ATF6 was set to GREEN\nAdded comment: At least 11 families reported with the biallelic variants and a null mouse model with retinal degeneration. \nSources: Expert list",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:45:43.620758+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Achromatopsia\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-21T14:45:28.585346+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:45:28.573315+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:45:23.307930+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Green List (high evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:45:23.298935+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:44:54.081676+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome (MIM#270400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:42:24.886548+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCDC2 were set to 25557784",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:41:22.025515+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCDC2 were set to 25557784",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:32:43.451657+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARMC9 as ready",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:32:43.442739+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: armc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:32:40.053845+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARMC9 as Amber List (moderate evidence)",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:32:40.041764+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: armc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:32:30.487454+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARMC9 was added\ngene: ARMC9 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC9 were set to 28625504\nPhenotypes for gene: ARMC9 were set to Joubert syndrome 30 MIM#617622\nReview for gene: ARMC9 was set to AMBER\nAdded comment: Retinal dystrophy has been reported in two out of nine cases. Knockout of Armc9 in zebrafish resulted in curved body shape, retinal dystrophy, coloboma, reduced cilia number in ventricles, and shortened cilia in photoreceptor outer segments. \nSources: Expert list",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:24:10.475440+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B9D1 as Amber List (moderate evidence)",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:24:10.466266+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:23:33.179291+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype.; to: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype. However note that in Meckel individual one of the variants identified is a multi-gene deletion and in addition a likely path CEP290 variant also reported.",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:22:41.283920+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B9D1: Changed rating: AMBER",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:22:20.293350+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D1 as ready",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:22:20.284249+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Red List (Low Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:22:16.848660+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B9D1 were changed from to Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:21:42.510409+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B9D1 were set to ",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:21:13.227201+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARL13B as ready",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:21:13.218433+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl13b has been classified as Green List (High Evidence).",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:21:10.791827+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:21:10.397912+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARL13B as Green List (high evidence)",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:21:10.386542+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl13b has been classified as Green List (High Evidence).",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:20:58.944538+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL13B was added\ngene: ARL13B was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL13B were set to 18674751; 30573647; 25138100; 29255182\nPhenotypes for gene: ARL13B were set to Joubert syndrome 8 MIM#612291\nReview for gene: ARL13B was set to GREEN\nAdded comment: At least three families reported with retinopathy as a feature of the syndrome. An Arl13b null mouse has defects in retinal development with reduced cell proliferation. \nSources: Expert list",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:20:35.101551+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B9D1 as Red List (low evidence)",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:20:35.089308+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Red List (Low Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:20:03.734055+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype.; to: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described: however note one of the variants was a multi-gene deletion, and in addition the individual had a CEP290 likely path variant. None had polydactyly.",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T14:17:54.551729+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B9D1: Changed rating: RED",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T13:02:14.975799+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALPK1 as Green List (high evidence)",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-05-21T13:02:14.964000+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: alpk1 has been classified as Green List (High Evidence).",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:57:49.523617+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALPK1 was added\ngene: ALPK1 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALPK1 were set to 30967659; 31939038\nPhenotypes for gene: ALPK1 were set to ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:57:16.983485+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D1 as ready",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:57:16.971000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:57:06.088167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B9D1 were changed from to Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:56:45.293319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B9D1 were set to ",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:56:24.174620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:56:03.634557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B9D1 as Amber List (moderate evidence)",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:56:03.622570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:55:42.754909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype. \nSources: Expert list; to: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. This latter individual had a splice site variant and a deletion. Splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant.",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:54:38.785766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B9D1: Changed publications: 24886560, 21493627, 25920555",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:53:47.824795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B9D1: Changed rating: AMBER",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:52:33.499512+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D1 as ready",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:52:33.490763+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:52:21.067863+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:51:46.452562+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B9D1 were set to ",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:51:21.186790+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
}
]
}