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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1812",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1810",
"results": [
{
"created": "2020-05-04T08:49:38.268969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23991085, 24094744; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:48:25.841258+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC65 as ready",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:48:25.831762+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc65 has been classified as Green List (High Evidence).",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:48:21.623901+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CCDC65.",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:48:18.103395+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:47:45.497596+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC65 were set to ",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:47:14.958618+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:46:39.619615+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23991085, 24094744; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:39:20.278950+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC65 as Green List (high evidence)",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:39:20.269391+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc65 has been classified as Green List (High Evidence).",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:38:47.858515+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:37:43.990188+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:37:40.518712+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:34:18.911025+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SCAPER was added\ngene: SCAPER was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCAPER were set to PMID:30723319; 28794130; 31069901; 31192531; 30723319\nPhenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome\nReview for gene: SCAPER was set to GREEN\nAdded comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.\r\nSources: Literature \nSources: Expert Review",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:32:26.273827+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC65 as ready",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:32:26.267456+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, single founder variant reported, functional data.",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:32:26.222311+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc65 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:32:07.227686+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:31:42.332342+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC65 were set to ",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:31:15.818634+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:29:59.661749+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC65 as Amber List (moderate evidence)",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:29:59.648608+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc65 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:28:59.915834+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CCDC65.",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:14:52.229504+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.35",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23991085, 24094744; Phenotypes: Ciliary dyskinesia, primary, 27 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:20:58.853389+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:20:58.844463+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:20:52.526556+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAR as Green List (high evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:20:52.514409+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:20:43.358975+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM#\t615010\nReview for gene: ADAR was set to GREEN\nAdded comment: White matter changes reported in some. \nSources: Expert list",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:14:56.778485+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP7B1 as ready",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:14:56.763886+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp7b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:14:52.896892+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP7B1 as Green List (high evidence)",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:14:52.883339+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp7b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:14:41.564066+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP7B1 were set to 24117163; 19439420; 19187859\nPhenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, MIM#\t270800\nReview for gene: CYP7B1 was set to GREEN\nAdded comment: White matter lesions have been reported as a feature of the condition in >3 cases. Age of onset highly variable, generally in adolescence but onset in early childhood reported. \nSources: Expert list",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:11:14.378569+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:11:14.369549+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:11:07.565088+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPC1 as Green List (high evidence)",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:11:07.543945+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:10:58.731582+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC1 were set to 26910362; 29406968\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/D, MIM#\t257220\nReview for gene: NPC1 was set to GREEN\nAdded comment: Age of onset/severity highly variable. \nSources: Expert list",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:05:48.306652+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPIA as ready",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:05:48.297460+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpia has been classified as Green List (High Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:05:42.344155+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPIA as Green List (high evidence)",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:05:42.335359+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpia has been classified as Green List (High Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:05:34.582801+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPIA was added\ngene: RPIA was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPIA were set to 31247379; 14988808; 31056085\nPhenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM#\t608611\nReview for gene: RPIA was set to GREEN\nAdded comment: Four unrelated individuals described to date, variable onset of leukodystrophy in childhood/adolescence, though other symptoms generally precede. \nSources: Expert list",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:02:32.178762+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNORD118 as ready",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:02:32.156303+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snord118 has been classified as Green List (High Evidence).",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:02:28.427851+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNORD118 as Green List (high evidence)",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:02:28.416048+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snord118 has been classified as Green List (High Evidence).",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:02:17.805253+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNORD118: Changed rating: GREEN; Changed phenotypes: Leukoencephalopathy, brain calcifications, and cysts 614561",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-05-03T18:02:02.172811+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNORD118 was added\ngene: SNORD118 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNORD118 were set to 27571260\nPhenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts\t614561\nAdded comment: Over 30 families reported, age at presentation ranged between infancy and 54 years. \nSources: Expert list",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:44:31.616058+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF17 as ready",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:44:31.602847+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:44:26.033183+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCAF17 as Green List (high evidence)",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:44:26.022071+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:43:55.629112+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 19026396; 20507343\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM#\t241080\nReview for gene: DCAF17 was set to GREEN\nAdded comment: White matter changes are part of the phenotype. \nSources: Expert list",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:42:22.493063+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:42:22.480321+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:42:17.794456+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTEN as Green List (high evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:42:17.785959+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-03T17:42:08.845386+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTEN were set to 29720545; 29152901; 30664625\nPhenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350\nReview for gene: PTEN was set to GREEN\nAdded comment: White matter changes described in many individuals. \nSources: Expert list",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:59:03.067918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf59 as ready",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:59:03.056993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf59 has been classified as Green List (High Evidence).",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:58:50.649808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:58:18.634960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf59 were set to ",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:57:49.309719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:57:28.368987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C21orf59.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:57:13.351189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24094744; Phenotypes: Ciliary dyskinesia, primary, 26, MIM# 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:56:14.294067+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf59 as ready",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:56:14.285150+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf59 has been classified as Green List (High Evidence).",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:56:08.898119+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:55:46.112887+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf59 were set to ",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:55:19.400943+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:54:52.439042+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C21orf59.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:54:43.256073+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24094744; Phenotypes: Ciliary dyskinesia, primary, 26, MIM# 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:53:53.119893+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least three unrelated families reported.; to: At least three unrelated families reported. HGNC approved name CFAP298.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:53:31.433001+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf59 as ready",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:53:31.424229+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf59 has been classified as Green List (High Evidence).",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:53:28.524144+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:53:04.902498+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf59 were set to ",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:52:42.008730+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:52:12.286995+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24094744; Phenotypes: Ciliary dyskinesia, primary, 26, MIM# 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:51:21.540003+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C21orf59.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:49:23.940954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WISP3 as ready",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:49:23.927319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wisp3 has been classified as Green List (High Evidence).",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:49:11.174544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WISP3 were changed from to Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:48:47.140543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WISP3 were set to ",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:48:25.504473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WISP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:48:05.006236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: WISP3.",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:47:50.940591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10471507; Phenotypes: Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230, Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:45:50.631955+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WISP3 as ready",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:45:50.626371+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name CCN6",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:45:50.585153+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wisp3 has been classified as Green List (High Evidence).",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:45:43.491684+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: WISP3.",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:45:17.056172+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WISP3 as ready",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:45:17.052282+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name CCN6",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:45:17.021931+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wisp3 has been classified as Green List (High Evidence).",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:45:01.819864+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: WISP3.",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:44:24.311183+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5E as ready",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:44:24.307280+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name ATP5F1E.",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2020-05-03T13:44:24.277118+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5e has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP5E",
"entity_type": "gene"
}
]
}