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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1924",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1922",
"results": [
{
"created": "2020-02-20T09:42:11.279988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy, MIM#158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:30:32.684857+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTPAP as ready",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:30:32.674843+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Red List (Low Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:30:21.502067+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:29:47.174423+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTPAP were set to ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:29:08.068711+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:28:41.354995+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTPAP as Red List (low evidence)",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:28:41.341769+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Red List (Low Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:28:04.639945+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTPAP as ready",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:28:04.630427+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:27:59.009932+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTPAP were changed from to Perinatal lethal encephalopathy; Spastic ataxia 4, autosomal recessive, MIM#613672",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:27:08.453220+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTPAP were set to ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:26:35.383515+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:26:11.717107+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTPAP as Amber List (moderate evidence)",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:26:11.703056+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:25:46.826863+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.5",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20970105; Phenotypes: ?Spastic ataxia 4, autosomal recessive 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:25:26.723071+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 31779033; Phenotypes: Perinatal lethal encephalopathy, Spastic ataxia 4, autosomal recessive, MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:05:11.645616+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A9 as ready",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:05:11.636280+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:05:06.833788+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A9 as Green List (high evidence)",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:05:06.820510+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:04:37.135434+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A9 was added\ngene: SLC9A9 was added to Autism. Sources: Expert list\nMode of inheritance for gene: SLC9A9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC9A9 were set to 18621663; 31134136; 27123481; 26755066\nPhenotypes for gene: SLC9A9 were set to {?Autism susceptibility 16}, MIM# 613410\nReview for gene: SLC9A9 was set to GREEN\nAdded comment: Several families and animal model data. \nSources: Expert list",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:02:11.847834+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A9 as ready",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:02:11.838143+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a9 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:02:03.364974+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A9 were changed from to {?Autism susceptibility 16}, MIM# 613410",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:01:36.948309+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A9 were set to ",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:01:08.738432+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A9 as Red List (low evidence)",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:01:08.729457+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a9 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T21:00:34.494083+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: None; Publications: 18621663, 31134136, 27123481, 26755066; Phenotypes: {?Autism susceptibility 16}, MIM# 613410; Mode of inheritance: None",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:44:58.958363+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A7 as ready",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:44:58.950080+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:44:45.698357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:44:11.196306+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:43:43.720724+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A7 as Red List (low evidence)",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:43:43.711537+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:43:12.592413+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC7A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:34:57.387672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A4 as ready",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:34:57.374797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:34:46.034640+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A4 as ready",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:34:46.025638+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:34:40.546649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A4 were changed from {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:34:11.773111+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A4 were changed from to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:33:53.083372+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:33:34.804201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A4 were changed from to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:33:06.201632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A4 were set to ",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:32:12.497680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:31:52.094906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A4 as Red List (low evidence)",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:31:52.086092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:31:31.351926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: 31629822; Phenotypes: {Obsessive-compulsive disorder}, MIM# 164230, depression, alcohol dependence; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:31:24.692713+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A4 were set to ",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:31:05.925092+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:30:26.660908+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A4 as Red List (low evidence)",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:30:26.647042+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T20:29:43.905855+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: 31629822; Phenotypes: {Obsessive-compulsive disorder}, MIM# 164230, depression, alcohol dependence; Mode of inheritance: None",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2020-02-19T19:20:35.909545+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T19:20:35.900714+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T19:20:31.952723+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; {Systemic lupus erythematosus, susceptibility to}; Vasculopathy, retinal, with cerebral leukodystrophy",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T19:20:08.341185+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T19:19:44.058095+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TREX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T19:19:11.421833+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937424; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, {Systemic lupus erythematosus, susceptibility to}, Vasculopathy, retinal, with cerebral leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:51:58.022365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:51:58.007008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:51:46.895320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; {Systemic lupus erythematosus, susceptibility to}; Vasculopathy, retinal, with cerebral leukodystrophy",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:51:23.076998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:51:08.507352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TREX1 was changed from to Other",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:50:05.114590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGSNAT as ready",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:50:05.105505+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Green List (High Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:49:54.096497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930); Retinitis pigmentosa 73 (MIM # 616544)",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:49:34.299791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGSNAT were set to ",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:49:12.263411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:48:26.135443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKP as ready",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:48:26.131560+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note 17-bp duplication (1250_1266dup) in exon 14 identified in multiple individuals.",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:48:26.107566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkp has been classified as Green List (High Evidence).",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:48:18.815825+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM#613402",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:47:47.423557+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKP were set to ",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:47:15.939770+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:45:48.531650+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23224214, 20118933; Phenotypes: Microcephaly, seizures, and developmental delay, MIM#613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:43:23.016800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKP as ready",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:43:23.003454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkp has been classified as Green List (High Evidence).",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:43:11.850733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4, MIM#616267; Microcephaly, seizures, and developmental delay, MIM#613402",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:40:29.040714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKP were set to ",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:40:12.565943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:38:04.992518+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH5 as ready",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:38:04.983135+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah5 has been classified as Green List (High Evidence).",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:37:58.665755+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:37:29.332185+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH5 were set to ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:37:06.042587+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:36:38.067414+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:35:58.806089+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH5 as ready",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:35:58.791251+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah5 has been classified as Green List (High Evidence).",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:35:53.241061+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:35:25.421394+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH5 were set to ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:34:57.617123+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:34:29.802866+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:31:07.888973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH5 as ready",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:31:07.880240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah5 has been classified as Green List (High Evidence).",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:30:53.452024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:27:02.727157+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH5 were set to ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:26:43.249437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:25:37.535705+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH23 as ready",
"entity_name": "CDH23",
"entity_type": "gene"
}
]
}