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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1447",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1445",
"results": [
{
"created": "2021-01-07T14:09:58.784536+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:RPL3L from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-07T14:09:00.501700+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LSM11 as ready",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:09:00.493650+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:08:53.056643+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSM11 as Red List (low evidence)",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:08:53.044232+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:08:14.831392+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LSM11 as ready",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:08:14.819461+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:08:13.104573+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSM11 as Red List (low evidence)",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:08:13.097233+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:07:50.094066+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSM11 as Red List (low evidence)",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:07:50.083021+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:07:08.818091+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LSM11 as ready",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:07:08.807213+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:07:03.869473+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSM11 as Red List (low evidence)",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:07:03.861293+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:06:00.958876+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK2 as ready",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:06:00.951290+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:05:55.776767+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2AK2 as Amber List (moderate evidence)",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:05:55.767142+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:05:42.481426+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to 33236446\nPhenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness; early onset dystonia\nReview for gene: EIF2AK2 was set to AMBER\nAdded comment: 10 individuals reported with complex neurological phenotype including ataxia and spasticity.\r\n\r\nAdditional report in PMID 33236446 of same missense variant, p.Gly130Arg segregating with disease in 5 individuals from one family, and occurring de novo in another individual with prominent, early-onset dystonia. One more individual identified with a homozygous variant and dystonia. Some functional data to support variant pathogenicity. Three of the individuals had additional neurological features including ID. \nSources: Expert Review",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:01:59.369772+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK2 as ready",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:01:59.357434+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:01:54.182345+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2AK2 as Green List (high evidence)",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:01:54.174596+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:01:40.513439+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Leukodystrophy - paediatric. Sources: Expert Review\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to 32197074\nPhenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: Two additional individuals reported in DOI: https://doi.org/10.1212/NXG.0000000000000539 to add to previous 8. Complex neurological phenotype includes white matter abnormalities, described as Pelizaeus-Merzbacher-like. \nSources: Expert Review",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:56:04.695353+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPH2 as ready",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:56:04.683581+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:55:57.597088+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPH2 as Amber List (moderate evidence)",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:55:57.589221+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:54:46.531769+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBRSL1 as ready",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:54:46.518539+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:54:40.988466+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBRSL1 as Amber List (moderate evidence)",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:54:40.978670+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:31:53.801674+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.14",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Marked gene: CDH1 as ready",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:31:53.794232+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.14",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: cdh1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:25:43.658238+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.14",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: CDH1 as Amber List (moderate evidence)",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:25:43.653106+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.14",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Needs review by PreGen committee - a cause for syndromic Clefting but also for later onset gastric cancer with incomplete overlap of gen phen correlations",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:25:43.626632+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.14",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: cdh1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:23:59.820920+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.13",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Red List (low evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:23:59.809205+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.13",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:23:35.856514+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.12",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:22:31.562274+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.12",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: TRIM27 as Red List (low evidence)",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:22:31.550259+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.12",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Not a clear cause of a Mendelian disorder so should be removed from the incidentalome panel",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:22:31.524370+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.12",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: trim27 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:21:23.741864+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.11",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: TRIM27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:17:58.217363+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.11",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: TRIM33 as Red List (low evidence)",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:17:58.213778+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.11",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Not a clear cause of a Mendelian disorder and so should be removed from the incidentalome gene panel",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:17:58.193090+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.11",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: trim33 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:16:51.600056+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.10",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: TRIM33: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:12:05.194346+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.10",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:08:32.783693+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.10",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:08:32.778572+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.10",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Some evidence for AD CMT 2Y, but only a few families\r\nMajor phenotype for gene is an adult onset dementia\r\nShould be kept in the PreGen incidentalome gene list",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:08:32.732852+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.10",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:04:39.595462+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.10",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: VHL as Amber List (moderate evidence)",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:04:39.591866+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.10",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Requires review by PreGen committee",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:04:39.570599+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.10",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: vhl has been classified as Amber List (Moderate Evidence).",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:03:34.369705+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.9",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: VHL as Amber List (moderate evidence)",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:03:34.357767+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.9",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Needs discussion by PreGen Committee",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:03:34.311711+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.9",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: vhl has been classified as Amber List (Moderate Evidence).",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:02:52.424052+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.8",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Marked gene: WT1 as ready",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:02:52.413125+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.8",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: wt1 has been classified as Red List (Low Evidence).",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:02:45.187256+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.8",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: WT1 as Red List (low evidence)",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:02:45.179471+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.8",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: wt1 has been classified as Red List (Low Evidence).",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2021-01-07T12:01:48.990422+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.7",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: WT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2021-01-07T11:58:42.915758+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.7",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Classified gene: ZBTB16 as Red List (low evidence)",
"entity_name": "ZBTB16",
"entity_type": "gene"
},
{
"created": "2021-01-07T11:58:42.902511+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.7",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "Gene: zbtb16 has been classified as Red List (Low Evidence).",
"entity_name": "ZBTB16",
"entity_type": "gene"
},
{
"created": "2021-01-07T11:57:30.120752+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.6",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ZBTB16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ZBTB16",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:48:49.691689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RABL2A as ready",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:48:49.683000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabl2a has been classified as Red List (Low Evidence).",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:48:41.215199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RABL2A were set to 33075816",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:48:21.221607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RABL2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:48:03.316370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RABL2A as Red List (low evidence)",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:48:03.303197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabl2a has been classified as Red List (Low Evidence).",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:47:46.002770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RABL2A: Rating: RED; Mode of pathogenicity: None; Publications: 24825419; Phenotypes: Male infertility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:41:45.623585+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NF2 as ready",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:41:45.612664+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nf2 has been classified as Green List (High Evidence).",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:41:43.157264+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2, MIM# 101000",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:41:15.822225+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NF2 were set to ",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:40:49.561006+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:40:20.656294+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2, MIM# 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:39:21.593109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKT1 as Green List (high evidence)",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:39:21.585452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Green List (High Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-01-07T09:39:01.038122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 21793738; Phenotypes: Proteus syndrome, somatic 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-01-07T07:29:50.112949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP250 as ready",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-07T07:29:50.100595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep250 has been classified as Green List (High Evidence).",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-07T07:29:42.293270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP250 were changed from to Cone-rod dystrophy and hearing loss 2, MIM# 618358",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-07T07:29:22.650182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP250 were set to ",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-07T07:29:03.165418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP250 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-07T07:28:43.774759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP250: Rating: GREEN; Mode of pathogenicity: None; Publications: 24780881, 29718797, 30459346; Phenotypes: Cone-rod dystrophy and hearing loss 2, MIM# 618358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-07T05:23:08.474777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6002",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: RABL2A was added\ngene: RABL2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RABL2A was set to Unknown\nPublications for gene: RABL2A were set to 33075816\nPhenotypes for gene: RABL2A were set to male infertility; ciliopathy\nReview for gene: RABL2A was set to RED\nAdded comment: PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus. \nSources: Literature",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T03:10:25.361182+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.51",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: NF2: Rating: ; Mode of pathogenicity: None; Publications: 33075808; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T02:20:16.614081+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6002",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-01-06T21:51:28.750679+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2021-01-06T21:51:28.738770+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2021-01-06T21:51:25.643065+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2021-01-06T21:50:56.971899+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2021-01-06T21:50:24.470131+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2021-01-06T21:48:49.095866+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087)",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2021-01-06T21:46:32.091035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCAN as ready",
"entity_name": "VCAN",
"entity_type": "gene"
},
{
"created": "2021-01-06T21:46:32.083054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcan has been classified as Green List (High Evidence).",
"entity_name": "VCAN",
"entity_type": "gene"
}
]
}