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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1672",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1670",
"results": [
{
"created": "2020-08-15T16:39:56.198839+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFAP5 were set to ",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:39:30.980495+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:39:06.139558+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFAP5 as Amber List (moderate evidence)",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:39:06.131191+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfap5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:38:39.809686+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434006, 30763214; Phenotypes: Aortic aneurysm, familial thoracic MIM# 616166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:37:18.792598+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:37:18.784164+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:37:15.069866+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, MIM# 309520",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:36:48.685212+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:36:23.315112+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lujan-Fryns syndrome, MIM# 309520; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:34:17.864307+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECOM as ready",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:34:17.852764+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecom has been classified as Green List (High Evidence).",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:34:13.651399+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MECOM as Green List (high evidence)",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:34:13.643180+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecom has been classified as Green List (High Evidence).",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-08-15T16:33:51.886700+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECOM was added\ngene: MECOM was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#\t616738\nReview for gene: MECOM was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:08:05.896838+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAT2A as ready",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:08:05.886743+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:08:01.478783+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAT2A were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:07:36.971097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAT2A as ready",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:07:36.960706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:07:20.724636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAT2A were changed from to Thoracic aortic aneurysm",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:07:07.214163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAT2A were set to ",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:06:54.746944+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAT2A were changed from to Thoracic aortic aneurysm",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:06:53.342063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:06:24.764616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAT2A as Amber List (moderate evidence)",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:06:24.756408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:06:09.868250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25557781; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:05:59.566372+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAT2A were set to ",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:05:42.685083+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:05:02.202926+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAT2A as Amber List (moderate evidence)",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:05:02.193779+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:04:40.544991+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25557781; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:02:21.731938+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYST as ready",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:02:21.722529+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:02:17.549960+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LYST as Green List (high evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:02:17.540385+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-08-15T14:01:49.884714+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM#\t214500\nReview for gene: LYST was set to GREEN\nAdded comment: Well established gene-disease association, thrombocytopaenia is a feature. \nSources: Expert list",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:59:28.390620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LOX as ready",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:59:28.380253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lox has been classified as Green List (High Evidence).",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:59:19.169415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:59:01.769105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LOX were set to ",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:58:38.385449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:58:24.008179+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LOX as ready",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:58:23.996476+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lox has been classified as Green List (High Evidence).",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:58:21.009130+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:57:56.007592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 26838787, 30675029; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM# 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:57:47.903810+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LOX were set to ",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:57:06.869326+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:56:39.103344+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LOX: Added comment: Gene-disease association with aortic aneurysm rated as strong by ClinGen.; Changed publications: 30071989, 26838787, 30675029",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:55:44.024949+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM# 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:51:18.874666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDSR as ready",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:51:18.865826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdsr has been classified as Green List (High Evidence).",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:51:11.972751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:50:56.682741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDSR were set to ",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:50:40.155546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:50:21.646150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774589, 30467204, 28575652; Phenotypes: Erythrokeratodermia variabilis et progressiva 4, MIM# 617526, severe thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:49:32.986694+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDSR as ready",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:49:32.979025+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdsr has been classified as Green List (High Evidence).",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:49:24.682878+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:48:58.843926+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDSR were set to ",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:48:36.683633+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:48:13.418706+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774589, 30467204, 28575652; Phenotypes: Erythrokeratodermia variabilis et progressiva 4, MIM# 617526, severe thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:46:00.641999+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDSR as ready",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:46:00.631768+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdsr has been classified as Green List (High Evidence).",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:45:56.433406+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDSR as Green List (high evidence)",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:45:56.423227+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdsr has been classified as Green List (High Evidence).",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:45:23.302337+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDSR was added\ngene: KDSR was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KDSR were set to 28774589; 30467204\nPhenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM#\t617526; severe thrombocytopaenia\nReview for gene: KDSR was set to GREEN\nAdded comment: At least 5 families reported where thrombocytopaenia was a significant feature in addition to the eryhtrokeratoderma. \nSources: Expert list",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:20:50.147095+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA11 as ready",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:20:50.134976+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Green List (High Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:20:46.450536+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA11 as Green List (high evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:20:46.440748+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Green List (High Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:20:18.678412+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA11 was added\ngene: HOXA11 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXA11 were set to 11101832; 16765069\nPhenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM#\t605432\nReview for gene: HOXA11 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:16:54.112839+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:16:54.103461+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:16:50.170232+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNE as Green List (high evidence)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:16:50.159798+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-08-15T13:16:22.566684+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNE were set to 30171045; 32505938; 29941673; 25257349\nPhenotypes for gene: GNE were set to Thrombocytopaenia; Myopathy\nReview for gene: GNE was set to GREEN\nAdded comment: Multiple reports of thrombocytopaenia associated with bi-allelic variants in this gene, without or without a muscle phenotype. Note bi-allelic variants classically cause Nonaka myopathy. \nSources: Expert list",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:06:51.551705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGCX as ready",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:06:51.539866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggcx has been classified as Green List (High Evidence).",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:06:45.228856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GGCX were changed from to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:06:29.197742+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GGCX were set to ",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:06:12.978590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GGCX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:05:55.396489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 32785662, 30531603, 26758921; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:04:10.449976+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGCX as ready",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:04:10.440296+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggcx has been classified as Green List (High Evidence).",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:04:00.452624+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGCX as Green List (high evidence)",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:04:00.442598+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggcx has been classified as Green List (High Evidence).",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T12:03:30.127861+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GGCX was added\ngene: GGCX was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGCX were set to 32785662; 30531603; 26758921\nPhenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM#\t277450\nReview for gene: GGCX was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:55:10.129777+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:55:10.112915+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:55:06.447397+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GBA as Green List (high evidence)",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:55:06.437577+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:54:39.516585+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBA was added\ngene: GBA was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease\nReview for gene: GBA was set to GREEN\nAdded comment: Thrombocytopaenia secondary to hypersplenism. \nSources: Expert list",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:44:52.129903+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA1 as ready",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:44:52.120401+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Green List (High Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:44:49.027803+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA1 as Green List (high evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:44:49.015357+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Green List (High Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-08-15T11:44:25.943416+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM#\t300367\nReview for gene: GATA1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:21:48.442542+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT. \nSources: Literature; to: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT/PAH. \r\nSources: Literature",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:21:29.979280+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF2 as ready",
"entity_name": "GDF2",
"entity_type": "gene"
}
]
}