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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1437",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1435",
"results": [
{
"created": "2021-01-21T21:52:23.166269+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHB4 as ready",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:52:23.130474+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb4 has been classified as Green List (High Evidence).",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:52:20.015095+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation-2 to Capillary malformation-arteriovenous malformation-2, MIM# 618196",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:51:58.403575+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:51:47.872324+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 2, MIM# 618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:50:39.916400+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENG as ready",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:50:39.909048+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:50:26.176494+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-01-21T17:15:30.941022+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Metabolic Disorders Superpanel\nSet child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease\nSet panel types to: Superpanel; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-20T21:41:51.796188+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACVRL1 as ready",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:41:51.784648+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:41:45.313866+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVRL1 were set to ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:15:01.083068+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:11:52.988448+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-20T21:11:13.132723+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH9 as ready",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:11:13.119559+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh9 has been classified as Green List (High Evidence).",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:11:10.437175+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:10:40.649383+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:10:08.350026+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:09:16.231070+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A3 as ready",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:09:16.223578+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Green List (High Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:09:08.013296+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3 were changed from to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:08:38.115165+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2021-01-20T21:08:05.651896+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780, Alport syndrome 3, autosomal dominant, MIM# 104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2021-01-20T17:14:38.018201+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: CTDP1.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:58:14.326769+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KIF1A as Green List (high evidence)",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:58:14.316896+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif1a has been classified as Green List (High Evidence).",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:57:10.963656+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF1A were set to 32096284; 32935419\nPhenotypes for gene: KIF1A were set to Dystonia; spastic paraplegia; intellectual disability\nReview for gene: KIF1A was set to GREEN\ngene: KIF1A was marked as current diagnostic\nAdded comment: Dystonia was a feature of the phenotype in 4/10 cases with de novo or parental germline mosaic variants. \nSources: Literature",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:48:17.156567+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CBY1 as ready",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:48:17.146246+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:47:55.034713+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CBY1 as Green List (high evidence)",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:47:55.022702+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:47:34.385780+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CBY1 was added\ngene: CBY1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBY1 were set to 33131181; 25103236; 25220153\nPhenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome\nReview for gene: CBY1 was set to GREEN\nAdded comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ataxia as a feature of the condition. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes. \nSources: Literature",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:45:56.991379+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3402",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CBY1 as ready",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:45:56.983925+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3402",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:45:44.091705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3402",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CBY1 as Green List (high evidence)",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:45:44.081796+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3402",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:43:26.622008+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3401",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CBY1 was added\ngene: CBY1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBY1 were set to 33131181; 25103236; 25220153\nPhenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome\nReview for gene: CBY1 was set to GREEN\nAdded comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ID as a feature of the phenotype. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes. \nSources: Literature",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:42:09.399941+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.43",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SCN5A as Amber List (moderate evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:42:09.396509+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.43",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: needs discussion as treatable",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:42:09.374513+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.43",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:41:54.758321+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.42",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:41:12.021857+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.42",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SDHA as Red List (low evidence)",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:41:12.016902+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.42",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: may present in childhood",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:41:11.986549+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.42",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: sdha has been classified as Red List (Low Evidence).",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:41:00.465633+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.41",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:40:56.893671+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CBY1 as ready",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:40:56.883834+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:40:27.312596+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.41",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SDHAF2 as Amber List (moderate evidence)",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:40:27.307751+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.41",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: probably limited to adult onset disease and so should be kept on this list - needs discussion",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:40:27.282959+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.41",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:40:16.285796+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.40",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:40:11.506259+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CBY1 as Green List (high evidence)",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:40:11.496946+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:39:39.275336+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.40",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SDHB as Amber List (moderate evidence)",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:39:39.272039+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.40",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: probably limited to adult onset disease and so should be kept on this list - needs discussion",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:39:39.253682+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.40",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:39:29.008317+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.39",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:38:43.631521+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.39",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:38:34.213826+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CBY1 was added\ngene: CBY1 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBY1 were set to 33131181; 25103236; 25220153\nPhenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome\nReview for gene: CBY1 was set to GREEN\nAdded comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes. \nSources: Literature",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:37:24.008565+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.39",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SDHD as Red List (low evidence)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:37:24.004716+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.39",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: may cause childhood onset disease",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:37:23.984540+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.39",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Red List (Low Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:37:13.218568+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.38",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:36:13.282568+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.38",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SMAD3 as Red List (low evidence)",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:36:13.279074+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.38",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: may cause childhood onset disease",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:36:13.259008+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.38",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Red List (Low Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:36:02.190513+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.37",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:35:06.697762+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.37",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SMAD4 as Amber List (moderate evidence)",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:35:06.692691+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.37",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: May cause Myhre syndrome but also adult cancer - needs discussion",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:35:06.665938+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.37",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:34:32.638058+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.36",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:33:24.982584+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CBY1 as ready",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:33:24.972096+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:33:21.463006+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CBY1 as Green List (high evidence)",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:33:21.452574+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:32:52.920212+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.36",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SNCA",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:32:31.764065+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CBY1 was added\ngene: CBY1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBY1 were set to 33131181; 25103236; 25220153\nPhenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome\nReview for gene: CBY1 was set to GREEN\nAdded comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes. \nSources: Literature",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:31:54.045165+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.36",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SNCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:31:05.255770+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.36",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SQSTM1 as Amber List (moderate evidence)",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:31:05.251979+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.36",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: adult dementia but may also present in childhood - needs discussion",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:31:05.232444+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.36",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:30:30.122850+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.35",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:41.499630+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.35",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: SRD5A2 as Amber List (moderate evidence)",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:41.494393+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.35",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Needs discussion due to clinical features",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:41.466221+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.35",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: srd5a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:12.394707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CBY1 as ready",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:12.383919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:06.652871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CBY1 as Green List (high evidence)",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:06.642326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Green List (High Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:01.997856+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.34",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Marked gene: SRD5A2 as ready",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:29:01.983884+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.34",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: srd5a2 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:28:47.718260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CBY1 was added\ngene: CBY1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBY1 were set to 33131181; 25103236; 25220153\nPhenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome\nReview for gene: CBY1 was set to GREEN\nAdded comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes. \nSources: Literature",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:28:46.261057+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.34",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: SRD5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SRD5A2",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:27:27.538901+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.34",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: STAT5B as Red List (low evidence)",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:27:27.534468+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.34",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: may present in childhood",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:27:27.509452+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.34",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: stat5b has been classified as Red List (Low Evidence).",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:27:15.051871+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.33",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: STAT5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:26:21.887698+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.33",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: STK11 as Amber List (moderate evidence)",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2021-01-20T16:26:21.882959+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.33",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: may present in younger adulthood - needs discussion",
"entity_name": "STK11",
"entity_type": "gene"
}
]
}