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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1750",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1748",
"results": [
{
"created": "2020-07-02T09:32:15.664501+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:32:03.890750+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:31:48.575637+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Somatic activating mutations are the cause of vascular malformations in this gene, thus it is not suitable to include on a germline testing panel.; to: Comment on list classification: Somatic activating mutations are the cause of vascular malformations in this gene.",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:31:27.605075+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panel; to: Comment on list classification: Somatic activating mutations cause vascular malformations.",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:31:06.835661+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Somatic mutation only causes vascular malformations. Not really suitable for a germline testing panel.; to: Comment on list classification: Somatic mutation only causes vascular malformations.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:30:37.781333+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations. This gene is not really suitable for a germline testing panel.; to: Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations. ",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:30:21.188216+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:29:50.910076+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. Not really suitable for a germline testing panel.; to: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. ",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:29:22.435714+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Somatic variants have been reported in association with vascular malformation. This gene is probably not suitable for a germline testing panel.; to: Comment on list classification: Somatic variants have been reported in association with vascular malformation. ",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:13:07.636691+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDR was added\ngene: KDR was added to Vascular Malformations_Somatic. Sources: Expert list\nMode of inheritance for gene: KDR was set to Other\nPublications for gene: KDR were set to 11807987; 18931684\nPhenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic, MIM#\t602089\nReview for gene: KDR was set to RED\nAdded comment: Limited reports, may be susceptibility factor. \nSources: Expert list",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:07:46.446530+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:07:46.433510+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:07:42.538877+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CA as Green List (high evidence)",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:07:42.525819+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:07:34.796224+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Vascular Malformations_Somatic. Sources: Expert list\nMode of inheritance for gene: PIK3CA was set to Other\nPublications for gene: PIK3CA were set to 22729224; 23246288\nPhenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation (MCAP) syndrome; Cowden syndrome 5 615108\nMode of pathogenicity for gene: PIK3CA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PIK3CA was set to GREEN\nAdded comment: Somatic activating mutaitons are the main cause of vascular malformations, though note four individuals with germline variants have been reported, hence gene is on both somatic and germline panels. \nSources: Expert list",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:05:23.004993+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Inherited Vascular Malformations to Vascular Malformations_Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-02T09:04:21.393345+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-02T09:01:53.361682+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS1 as ready",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:01:53.348243+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:01:49.396307+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOS1 as Amber List (moderate evidence)",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-07-02T09:01:49.386884+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:59:17.620287+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:59:17.607621+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:59:12.926496+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3R1 as Red List (low evidence)",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:59:12.917322+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:58:42.717655+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRAS as ready",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:58:42.704245+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nras has been classified as Green List (High Evidence).",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:58:35.864315+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: NRAS.",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:58:12.753104+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTOR as ready",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:58:12.740240+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtor has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:58:01.268595+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTOR as Amber List (moderate evidence)",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:58:01.247689+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtor has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:57:12.299292+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP3K3 as ready",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:57:12.289055+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map3k3 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:57:07.208216+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: MAP3K3.",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:55:35.033478+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K1 as ready",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:55:35.023686+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:55:28.845456+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: MAP2K1.",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:55:09.359302+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRAS as ready",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:55:09.338747+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kras has been classified as Green List (High Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:55:05.171496+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: KRAS.",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:54:46.953930+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:54:46.945279+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hras has been classified as Green List (High Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:54:36.915453+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: HRAS.",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:54:17.563588+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAQ as ready",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:54:17.550992+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnaq has been classified as Green List (High Evidence).",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:54:12.323391+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNAQ.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:53:45.086039+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNA14 as ready",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:53:45.059040+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna14 has been classified as Green List (High Evidence).",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:53:39.783045+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNA14.",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:53:15.383559+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNA11 as ready",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:53:15.368379+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna11 has been classified as Green List (High Evidence).",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:53:13.094548+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNA11 were changed from Somatic hemangioma to Somatic hemangioma; Phacomatosis pigmentovascularis, somatic",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:52:56.021694+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNA11.",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:52:38.587924+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:52:38.575197+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:52:32.599883+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: BRAF.",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:52:15.607332+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT1 as ready",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:52:15.597832+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Green List (High Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:52:09.705300+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: AKT1.",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:03.101174+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOS1 was added\ngene: SOS1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOS1 were set to 29907801\nPhenotypes for gene: SOS1 were set to Noonan syndrome 4 610733",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:03.052209+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3R1 was added\ngene: PIK3R1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: PIK3R1 was set to Other\nPublications for gene: PIK3R1 were set to 29174369\nPhenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:03.003137+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRAS was added\ngene: NRAS was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: NRAS was set to Other\nPublications for gene: NRAS were set to 30542204; 29461977\nPhenotypes for gene: NRAS were set to Kaposiform lymphangiomatosis; Sporadic vascular malformation\nMode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.946928+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTOR was added\ngene: MTOR was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: MTOR was set to Other\nPublications for gene: MTOR were set to 29174369; 28892148\nPhenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341\nMode of pathogenicity for gene: MTOR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.899079+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP3K3 was added\ngene: MAP3K3 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: MAP3K3 was set to Other\nPublications for gene: MAP3K3 were set to 10700190; 25728774\nPhenotypes for gene: MAP3K3 were set to Verrucous venous malformation",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.850465+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: MAP2K1 was set to Other\nPublications for gene: MAP2K1 were set to 31486960; 28190454; 29461977\nPhenotypes for gene: MAP2K1 were set to Arteriovenous malformation; Intramuscular fast-flow vascular anomaly\nMode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.803615+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: KRAS was set to Other\nPublications for gene: KRAS were set to 30677207; 30544177; 31160609\nPhenotypes for gene: KRAS were set to Arteriovenous malformation of the brain, somatic 108010; Vascular malformation\nMode of pathogenicity for gene: KRAS was set to Other",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.757673+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: HRAS was set to Other\nPublications for gene: HRAS were set to 31160609; 31637524; 30208313\nPhenotypes for gene: HRAS were set to Vascular malformation/overgrowth syndromes; Extracranial arteriovenous malformations\nMode of pathogenicity for gene: HRAS was set to Other",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.711746+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAQ was added\ngene: GNAQ was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GNAQ was set to Other\nPublications for gene: GNAQ were set to 30920161\nPhenotypes for gene: GNAQ were set to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.654808+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNA14 was added\ngene: GNA14 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GNA14 was set to Other\nPublications for gene: GNA14 were set to 31423605; 31707589; 27476652\nPhenotypes for gene: GNA14 were set to Tufted angioma; vascular tumours; Anastomosing hemangioma\nMode of pathogenicity for gene: GNA14 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.602778+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNA11 was added\ngene: GNA11 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GNA11 was set to Other\nPublications for gene: GNA11 were set to 30677207\nPhenotypes for gene: GNA11 were set to Somatic hemangioma\nMode of pathogenicity for gene: GNA11 was set to Other",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.518433+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: BRAF was set to Other\nPublications for gene: BRAF were set to 29316280; 30544177; 29461977\nPhenotypes for gene: BRAF were set to Sporadic vascular malformations\nMode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.407713+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT1 was added\ngene: AKT1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: AKT1 was set to Other\nPublications for gene: AKT1 were set to 23246288\nPhenotypes for gene: AKT1 were set to Cowden syndrome 6 615109; Proteus syndrome, somatic 176920\nMode of pathogenicity for gene: AKT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-07-02T08:50:02.347876+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Vascular Malformations_Somatic",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-01T20:41:42.932876+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM94 as ready",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:41:42.923497+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Green List (High Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:41:30.723055+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM94 as Green List (high evidence)",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:41:30.713816+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Green List (High Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:40:54.392749+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM94 was added\ngene: TMEM94 was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies\nPhenotypes for gene: TMEM94 were set to 30526868\nReview for gene: TMEM94 was set to GREEN\nAdded comment: Ten individuals from 6 unrelated families reported, variety of congenital heart defects in addition to ID (ASD, VSD, Tetralogy of Fallot). \nSources: Expert list",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:30:08.379568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported with trichohepatoenteric syndrome.; to: Multiple families reported with trichohepatoenteric syndrome, agree unclear if ID is an association.",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:28:13.424752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:27:25.352449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKIV2L as ready",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:27:25.341036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Green List (High Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:27:13.820747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SKIV2L were changed from to Trichohepatoenteric syndrome 2\t614602; Intellectual disability",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:26:56.476166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SKIV2L were set to ",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:26:18.593893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SKIV2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:20:12.833897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP5 as ready",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:20:12.819923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:20:01.681130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLRP5 as Amber List (moderate evidence)",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:20:01.649065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:19:44.195414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP5 was added\ngene: NLRP5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NLRP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NLRP5 were set to 32222962; 31829238; 30877238\nPhenotypes for gene: NLRP5 were set to Early embryonic arrest\nReview for gene: NLRP5 was set to AMBER\nAdded comment: At least two families reported. \nSources: Literature",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:13:37.970348+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ACVR1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-01T20:12:03.872628+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMILIN1 as ready",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:12:03.862280+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emilin1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:11:36.165337+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMILIN1 as Amber List (moderate evidence)",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:11:36.149205+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emilin1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:10:14.740687+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMILIN1 was added\ngene: EMILIN1 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: EMILIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EMILIN1 were set to 31978608; 26462740\nPhenotypes for gene: EMILIN1 were set to Peripheral neuropathy; aortic aneurysm\nReview for gene: EMILIN1 was set to AMBER\nAdded comment: Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein. \nSources: Literature",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:08:21.908542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMILIN1 as ready",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:08:21.899307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emilin1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:08:11.435494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMILIN1 as Amber List (moderate evidence)",
"entity_name": "EMILIN1",
"entity_type": "gene"
}
]
}