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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2016",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2014",
"results": [
{
"created": "2019-12-31T17:06:59.511277+11:00",
"panel_name": "Ichthyosis_VCGS",
"panel_id": 124,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:06:54.503145+11:00",
"panel_name": "Ichthyosis_VCGS",
"panel_id": 124,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS33B as Green List (high evidence)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:06:54.491402+11:00",
"panel_name": "Ichthyosis_VCGS",
"panel_id": 124,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:06:24.769706+11:00",
"panel_name": "Ichthyosis_VCGS",
"panel_id": 124,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to Ichthyosis_VCGS. Sources: Literature\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS33B were set to 30561130; 28017832\nPhenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness\nReview for gene: VPS33B was set to GREEN\nAdded comment: Four unrelated individuals reported with this phenotype. This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085). \nSources: Literature",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:03:57.726170+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:03:57.714313+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:03:54.090333+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS33B as Green List (high evidence)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:03:54.076674+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:03:25.532683+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS33B were set to 30561130; 28017832\nPhenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness\nReview for gene: VPS33B was set to GREEN\nAdded comment: Four unrelated individuals reported with this phenotype.\r\nThis condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085). \nSources: Literature",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:50:51.665363+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLC2 was added\ngene: KLC2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541\nReview for gene: KLC2 was set to RED\nAdded comment: A large deletion in the non-coding region segregates with disease and has been identified in >3 cases with SPOAN. This CNV is not detected by whole exome sequencing. \nSources: Expert list",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:47:42.469110+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.512",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22545135, 30925296; Phenotypes: Thrombophilia due to protein C deficiency, autosomal dominant (176860), Thrombophilia due to protein C deficiency, autosomal recessive (612304); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:42:36.493862+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GRID2 as ready",
"entity_name": "GRID2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:42:36.488749+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Deletion not detectable using exome sequencing and only one reported case with spastic paraplegia. This gene is associated with Spinocerebellar ataxia, autosomal recessive 18,\t616204.",
"entity_name": "GRID2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:42:36.462140+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grid2 has been classified as Red List (Low Evidence).",
"entity_name": "GRID2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:41:01.710088+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRID2 was added\ngene: GRID2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: GRID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GRID2 were set to 24122788\nPhenotypes for gene: GRID2 were set to Complicated spastic paraplegia\nReview for gene: GRID2 was set to RED\nAdded comment: One case with a de novo partial deletion of exon1 of GRID2 with a complicated spastic paraplegia phenotype. \nSources: Expert list",
"entity_name": "GRID2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:11:25.140959+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:11:25.130139+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Green List (High Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:11:21.487288+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: L1CAM as Green List (high evidence)",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:11:21.474960+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Green List (High Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:11:11.994435+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: L1CAM were set to Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000\nReview for gene: L1CAM was set to GREEN\nAdded comment: Early onset spastic paraplegia is a prominent feature of the phenotype. The syndrome is also known as SPG1. \nSources: Expert list",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:01.663230+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFR was added\ngene: ZFR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: ZFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFR were set to 24482476\nPhenotypes for gene: ZFR were set to Complicated hereditary spastic paraplegia",
"entity_name": "ZFR",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:01.579865+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR48 was added\ngene: WDR48 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR48 were set to 24482476\nPhenotypes for gene: WDR48 were set to Spastic paraplegia",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:01.493518+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS37A was added\ngene: VPS37A was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS37A were set to 22717650\nPhenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive; Spastic paraplegia 53, autosomal recessive, 614898, AR",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:01.385754+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USP8 was added\ngene: USP8 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP8 were set to 24482476\nPhenotypes for gene: USP8 were set to Complicated hereditary spastic paraplegia",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:01.298363+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UNC80 was added\ngene: UNC80 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:01.214817+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTR was added\ngene: TTR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TTR were set to 8960746\nPhenotypes for gene: TTR were set to Amyloidogenic transthyretin amyloidosis",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:01.131881+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPP1 were set to 27217339\nPhenotypes for gene: TPP1 were set to Ceroid lipofuscinosis neuronal 2; complex hereditary spastic paraplegia",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:01.045265+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STXBP1 was added\ngene: STXBP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: STXBP1 were set to Early infantile epileptic encephalopathy 4",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.962991+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX10 was added\ngene: SOX10 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOX10 were set to 28534044\nPhenotypes for gene: SOX10 were set to Neurocristopathy; PCWH syndrome, MIM#609136; Complicated hereditary spastic paraplegia",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.882015+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Biotin-thiamine-responsive basal ganglia disease",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.802607+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SELENOI was added\ngene: SELENOI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SELENOI were set to 28052917; 29500230\nPhenotypes for gene: SELENOI were set to severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.722529+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PGAP1 was added\ngene: PGAP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGAP1 were set to 24482476\nPhenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.641279+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTPAP was added\ngene: MTPAP was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTPAP were set to 27391121; 20970105\nPhenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.560788+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MARS was added\ngene: MARS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MARS were set to 24482476\nPhenotypes for gene: MARS were set to Complicated hereditary spastic paraplegia",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.479482+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS2 were set to Perrault syndrome 4",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.400943+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLC4 was added\ngene: KLC4 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLC4 were set to 26423925\nPhenotypes for gene: KLC4 were set to spastic paraplegia; progressive complicated spastic paraplegia",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.321769+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFRD1 was added\ngene: IFRD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IFRD1 were set to 29362493\nPhenotypes for gene: IFRD1 were set to autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.242213+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HARS2 was added\ngene: HARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS2 were set to Perrault syndrome 2",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.158638+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GAN was added\ngene: GAN was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAN were set to 26381321\nPhenotypes for gene: GAN were set to Giant axonal neuropathy",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:06:00.078202+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GAD1 was added\ngene: GAD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAD1 were set to 15571623\nPhenotypes for gene: GAD1 were set to Cerebralpalsy, spasticquadriplegic,1, 603513",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.942623+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXG1 was added\ngene: FOXG1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXG1 were set to Rett syndrome",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.865646+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EXOSC3 was added\ngene: EXOSC3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC3 were set to 25149867; 23975261\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.787313+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DSTYK was added\ngene: DSTYK was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DSTYK were set to Congenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750; Spastic paraplegia 23, 270750, AR",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.710543+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPP were set to Perrault syndrome 3",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.632660+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCT5 was added\ngene: CCT5 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCT5 were set to 16399879\nPhenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.555329+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATAD3A was added\ngene: ATAD3A was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ATAD3A were set to Harel-Yoon syndrome",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.473266+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARSI was added\ngene: ARSI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSI were set to 24482476\nPhenotypes for gene: ARSI were set to Childhood onset spastic paraplegia",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.397126+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL6IP1 was added\ngene: ARL6IP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL6IP1 were set to 30980493; 24482476; 28471035\nPhenotypes for gene: ARL6IP1 were set to ?Spastic paraplegia 61, autosomal recessive, MIM#615685",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.319664+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMPD2 were set to 24482476; 30089829; 29463858\nPhenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.244112+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH3A2 were set to Sjögren-Larsson syndrome",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.168772+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACOX1 were set to Pseudoneonatal adrenoleukodystrophy",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.092383+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR45B was added\ngene: WDR45B was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR45B were set to Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:59.016014+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UCHL1 was added\ngene: UCHL1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UCHL1 were set to Spastic paraplegia 79, autosomal recessive, 615491, AR",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.940776+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TFG was added\ngene: TFG was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TFG were set to ?Spastic paraplegia 57, autosomal recessive 615658,AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.865563+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TECPR2 was added\ngene: TECPR2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031; Spastic paraplegia 49, autosomal recessive,615031, AR",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.790423+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPART was added\ngene: SPART was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPART were set to Troyer syndrome; Spastic paraplegia 20, autosomal recessive",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.715142+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC2A1 was added\ngene: SLC2A1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC2A1 were set to Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.639574+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.563276+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, 300523, XL",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.485800+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERAC1 were set to MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.409950+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi Goutieres syndrome 5",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.334575+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to Aicardi Goutieres syndrome 2",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.259708+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: REEP2 was added\ngene: REEP2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.179475+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NT5C2 was added\ngene: NT5C2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.104385+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NKX6-2 was added\ngene: NKX6-2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:58.029990+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAG was added\ngene: MAG was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAG were set to 31402626; 24482476; 26179919\nPhenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.955402+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF1C was added\ngene: KIF1C was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302; Spastic ataxia 2, autosomal recessive",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.880903+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIDINS220 was added\ngene: KIDINS220 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.806700+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: KDM5C were set to Intellectual disability; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; progressive spasticity; hypothyroidism; developmental delay; epilepsy",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.732210+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.657792+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HACE1 was added\ngene: HACE1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HACE1 were set to seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; psychomotor retardation",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.583810+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GCH1 was added\ngene: GCH1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GCH1 were set to 21935284; 24509643\nPhenotypes for gene: GCH1 were set to Dystonia; progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.507241+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FARS2 was added\ngene: FARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.430761+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERLIN1 was added\ngene: ERLIN1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERLIN1 were set to Spastic paraplegia 62, 615681; Hereditary spastic paraplegia",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.356966+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ENTPD1 was added\ngene: ENTPD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ENTPD1 were set to Spasticparaplegia 64, 615683",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.283092+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.210343+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C19orf12 was added\ngene: C19orf12 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:57.138378+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C12orf65 was added\ngene: C12orf65 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf65 were set to Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.999178+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Progressive spastic tetraplegia; Argininaemia, 207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.926770+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP4S1 was added\ngene: AP4S1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4S1 were set to developmental delay; Spastic paraplegia 52, autosomal recessive, 614067; seizures",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.853794+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP4M1 was added\ngene: AP4M1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.781567+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP4E1 was added\ngene: AP4E1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, 613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.709737+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.637933+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Spastic paralysis, infantile onset ascending,autosomal recessive, 607225",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.565563+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AIMP1 was added\ngene: AIMP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.492628+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246; Spastic ataxia 5, autosomal recessive",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.419617+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:05:56.374566+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Hereditary Spastic Paraplegia - paediatric_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-31T16:02:44.192504+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK1 as ready",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:02:44.180418+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Green List (High Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:02:41.032732+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK1 were changed from to Autism",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:02:17.072586+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHANK1 as Green List (high evidence)",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:02:17.058684+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Green List (High Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:01:32.419443+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK1 as ready",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:01:32.407014+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:01:26.989838+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK1 were changed from to Autism",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:01:20.622651+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK1 were set to ",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:00:52.600989+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHANK1 as Red List (low evidence)",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T16:00:52.589987+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T15:58:05.202392+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN9 as ready",
"entity_name": "CLDN9",
"entity_type": "gene"
}
]
}