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[
{
"created": "2024-03-25T15:57:16.267045Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: STAMBP.",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:56:38.727813Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: STAMBP were set to 23542699",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:56:29.594042Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: STAMBP as Amber List (moderate evidence)",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:56:29.590401Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update. \r\n\r\nMultiple unrelated cases reported in the literature of biallelic variants in the STAMBP gene as the cause of microcephaly-capillary malformation syndrome (PMID: 21271646; 21548128; 21815250; 23542699; 25692795; 27531570; 29907875). Generalised capillary malformations on the skin are a cardinal feature of this condition and therefore inclusion of STAMBP on the panel is warranted.",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:56:29.558613Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: stambp has been classified as Amber List (Moderate Evidence).",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:41:46.580684Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: STAMBP were changed from Microcephaly-capillary malformation syndrome, MIM# 614261 to Microcephaly-capillary malformation syndrome, OMIM:614261",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:40:38.953842Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: PIK3R2 were set to 22729224; 23745720; 28502725",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:40:13.855328Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PIK3R2",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:10:34.266122Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:07:15.331520Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FOXC2 as Green List (high evidence)",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:07:15.327622Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Inclusion of FOXC2 should be reviewed by the GMS specialist team due to conflicting reviews.\r\n\r\nLymphedema-distichiasis syndrome caused by heterozygous variants in this gene does not seem to fit the panel scope and is more appropriate for R136 Primary lymphoedema.",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:07:15.294375Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Green List (High Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:05:17.906992Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_24_demote_red tag was added to gene: FOXC2.\nTag Q1_24_expert_review tag was added to gene: FOXC2.",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2024-03-25T14:25:56.826598Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FLT4 as Green List (high evidence)",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2024-03-25T14:25:56.823002Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Inclusion of FLT4 should be reviewed by the GMS specialist team due to conflicting reviews. \r\n\r\nPrimary lymphoedema caused by heterozygous variants in this gene does not fit the panel scope and is more appropriate for R136 Primary lymphoedema. Since 2002, there has only been one report of a somatic variant causing skin capillary haemangiomas (PMID:11807987). There has been no evidence of germline variants causing a similar phenotype.",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2024-03-25T14:25:56.772573Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: flt4 has been classified as Green List (High Evidence).",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2024-03-25T14:02:53.811719Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: FLT4.\nTag Q1_24_demote_red tag was added to gene: FLT4.\nTag Q1_24_expert_review tag was added to gene: FLT4.",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2024-03-11T16:37:37.925825Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: CCBE1",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-03-11T16:30:10.799169Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_24_demote_red tag was added to gene: CCBE1.\nTag Q1_24_expert_review tag was added to gene: CCBE1.",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-03-11T16:20:16.951884Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ALAS2 as Green List (high evidence)",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2024-03-11T16:20:16.946234Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Inclusion of ALAS2 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics).\r\n\r\nGain-of-function variants in the ALAS2 gene cause erythropoietic protoporphyria which is associated with acute phototoxic skin reactions following sunlight exposure. Although the origin of cutaneous manifestations is not directly vascular, this panel may provide a differential diagnosis. The FECH gene which also causes erythropoietic protoporphyria is also included on the panel. \r\n\r\nAdditionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2024-03-11T16:20:16.892553Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Green List (High Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2024-03-11T14:19:01.879966Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). \r\n\r\nADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicating that this panel may be applicable in some cases and represents a differential diagnosis.\r\n\r\nAdditionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.; to: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). \r\n\r\nADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura and petechiae, indicating that this panel may be applicable in some cases and represents a differential diagnosis.\r\n\r\nAdditionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2024-03-11T14:17:27.209374Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). \r\n\r\nADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicating that this panel may be applicable in some cases and represents a differential diagnosis.\r\n\r\nPrevious discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.; to: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). \r\n\r\nADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicating that this panel may be applicable in some cases and represents a differential diagnosis.\r\n\r\nAdditionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2024-03-11T14:17:01.958047Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). \r\n\r\nADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicates that this panel may be applicable in some cases and represents a differential diagnosis.\r\n\r\nPrevious discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.; to: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). \r\n\r\nADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicating that this panel may be applicable in some cases and represents a differential diagnosis.\r\n\r\nPrevious discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2024-03-11T14:15:59.724909Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ADAMTS13 as Green List (high evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2024-03-11T14:15:59.718876Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). \r\n\r\nADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicates that this panel may be applicable in some cases and represents a differential diagnosis.\r\n\r\nPrevious discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2024-03-11T14:15:59.677736Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2023-08-09T13:30:13.121286Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: AKT3.",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-08-09T13:30:03.868110Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AKT3 as Amber List (moderate evidence)",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-08-09T13:30:03.863612Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). Variants in this gene cause a spectrum of megalencephaly-related disorders, which in some cases can present as megalencephaly-capillary malformation syndrome (MCAP). Both somatic and germline variants have been reported. Vascular skin anomalies have been identified in at least 2 individuals germline variants (PMIDs: 22729224; 23745724) and 5 individuals with somatic variants (PMIDs: 25722288; 28969385; 34237354; 36695285; 37395289). Somatic variants may be missed but given that this panel is a possible referral route for these patients, recommending that AKT3 is promoted to green at the next GMS panel update.",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-08-09T13:30:03.794785Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-07-26T11:03:08.722001Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196 to Capillary malformation-arteriovenous malformation 2, OMIM:618196",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:29:42.840411Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_MOI was removed from gene: F12.\nTag Q2_22_expert_review was removed from gene: F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:29:28.226694Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: F12: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-04T09:23:43.190544Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_MOI tag was added to gene: F12.\nTag Q2_22_expert_review tag was added to gene: F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-04T09:21:41.685191Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: F12 were changed from Angioedema, hereditary, type III, OMIM:610618 to Angioedema, hereditary, type III, OMIM:610618; Factor XII deficiency, OMIM:234000",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:13:32.467543Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: F12",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-02-07T15:29:21.336121Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ANTXR1 were changed from Susceptibility to infantile haemangioma to {?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:24:59.903896Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350; capillary venous malformations to Cowden syndrome 1, OMIM:158350; capillary venous malformations",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:24:37.384430Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:24:01.858218Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM173 were changed from STING-associated vasculopathy to STING-associated vasculopathy, infantile-onset, OMIM:615934",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:23:37.588314Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TMEM173 were set to ",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:23:28.751967Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.43",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TEK were changed from Venous malformations to Venous malformations, multiple cutaneous and mucosal, OMIM:600195",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:23:03.840840Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TEK were set to ",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:22:47.536388Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:21:50.134512Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SOX18 were set to ",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:21:37.759198Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:21:20.976273Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SMAD4 were set to ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:21:13.508581Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SCN9A were changed from Erythromyalgia to Erythermalgia, primary, OMIM:133020",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:20:45.756390Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SCN9A were set to ",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:20:35.009625Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation syndrome to Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:20:10.881063Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RASA1 were set to ",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:19:57.518528Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387 to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:19:45.637359Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PIK3R2 were set to ",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:19:17.985070Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth syndromes; Vascular malformations to PIK3CA-related overgrowth syndromes; Vascular malformation, MONDO:0024291",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:18:14.291382Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PIK3CA were set to ",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:17:55.168095Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS, 116860 to CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:17:40.716898Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KRIT1 were set to ",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:17:29.505514Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GLMN were changed from Glomulovenous malformations to Glomulovenous malformations, OMIM:138000",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:17:11.500750Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GLMN were set to ",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:16:55.990875Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC2 were changed from Lymphoedema-distichiasis syndrome to Lymphoedema-distichiasis syndrome, OMIM:153400",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:16:38.726662Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FOXC2 were set to ",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:15:44.389938Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nInfantile haemangioma;Milroy disease",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:15:44.362123Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FLT4 were changed from Infantile haemangioma; Milroy disease to Hemangioma, capillary infantile, somatic, OMIM:602089",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:15:05.798463Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FLT4 were set to ",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:14:45.861760Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 to Protoporphyria, erythropoietic, 1, OMIM:177000",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:06:13.584878Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: F12 were changed from Hereditary angioedema to Angioedema, hereditary, type III, OMIM:610618",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:05:34.552083Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: F12 were set to ",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:04:47.864228Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196 to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:04:17.408538Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: EPHB4 were set to ",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:04:02.910056Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ENG were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:03:35.243119Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ENG were set to ",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:33:25.947967Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphoedema syndrome to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:32:57.279883Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CCBE1 were set to ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:32:50.202563Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from Ataxia telengiectasia to Ataxia telengiectasia, OMIM:208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:32:32.658920Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ATM were set to ",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:32:11.687374Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:32:04.479597Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ALAS2 were set to ",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:31:34.817582Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:31:11.522638Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ADAMTS13 were set to ",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:30:54.063106Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nHereditary haemorrhagic telengiectasia",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:30:54.032440Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ACVRL1 were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:30:08.178750Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ACVRL1 were set to ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:33:37.898453Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: GNAQ.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:33:24.455283Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: GNA11.",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:10:42.067950Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.4",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off\nPanel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-02T05:54:01.224034Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAMBP was added\ngene: STAMBP was added to Vascular skin disorders. Sources: Expert list\nMode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAMBP were set to 23542699\nPhenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, MIM# 614261\nReview for gene: STAMBP was set to GREEN\nAdded comment: Nine families reported in the original publication. \nSources: Expert list",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2020-07-02T05:46:01.987113Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3R2: Rating: RED; Mode of pathogenicity: None; Publications: 22729224, 28502725; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2020-07-02T04:13:15.678530Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: None",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-07-02T04:11:27.981705Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLT4: Rating: RED; Mode of pathogenicity: None; Publications: 11807987; Phenotypes: Hemangioma, capillary infantile, somatic, MIM# 602089; Mode of inheritance: None",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2020-07-02T04:03:05.815000Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2020-07-02T02:54:49.317805Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCBE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 1 235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2020-07-02T00:30:16.439100Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-07-02T00:10:57.653159Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Vascular skin disorders. Sources: Expert list\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT3 were set to 23745724; 22729224\nPhenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)\nMode of pathogenicity for gene: AKT3 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: AKT3 was set to GREEN\ngene: AKT3 was marked as current diagnostic\nAdded comment: Established cause of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937). Capillary malformations reported in PMID 23745724 & 22729224, both cases de novo AKT3 variants. \nSources: Expert list",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-07-02T00:08:33.994986Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-02-19T12:00:19.016887Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-12T16:59:31.233660Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-12T16:57:31.631872Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.39",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from to R326\nPanel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-11T20:22:10.779345Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.38",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: GNAQ as No list",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:22:10.774967Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.38",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Following advice from Tom Cullup of GOSH \"test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel.\"",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:22:10.746043Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.38",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: gnaq has been removed from the panel.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:21:36.704434Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.37",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: GNA11 as No list",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:21:36.698132Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.37",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Following advice from Tom Cullup of GOSH \"test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel.\"",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:21:36.657502Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.37",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: gna11 has been removed from the panel.",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:39.315485Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.36",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: PPOX as Red List (low evidence)",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:39.310647Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.36",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as \"porphyria testing covered elsewhere in test directory.\"",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:39.291875Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.36",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: ppox has been classified as Red List (Low Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:36.686040Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.36",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: PPOX as Red List (low evidence)",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:36.679938Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.36",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as \"porphyria testing covered elsewhere in test directory.\"",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:36.649974Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.36",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: ppox has been classified as Red List (Low Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:18.939804Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.35",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CPOX as Red List (low evidence)",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:18.935939Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.35",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as \"porphyria testing covered elsewhere in test directory.\"",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:10:18.917746Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.35",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cpox has been classified as Red List (Low Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:09:57.574788Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.34",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CPO as Red List (low evidence)",
"entity_name": "CPO",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:09:57.569108Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.34",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as \"porphyria testing covered elsewhere in test directory.\"",
"entity_name": "CPO",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:09:57.543510Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.34",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cpo has been classified as Red List (Low Evidence).",
"entity_name": "CPO",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:08:00.687074Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.33",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: AP3B1 as Red List (low evidence)",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:08:00.683615Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.33",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup @ GOSH as \"Hermansky-Pudlak syndrome is covered elsewhere in test directory\".",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:08:00.666007Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.33",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: ap3b1 has been classified as Red List (Low Evidence).",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:06:21.482155Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.32",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:04:34.688927Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.31",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Publications for gene: FECH were set to ",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:04:23.591696Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.30",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:03:50.905639Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.29",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Publications for gene: ATR were set to ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:03:09.293424Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.28",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Publications for gene: KDR were set to ",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:02:51.035444Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: KDR as Red List (low evidence)",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:02:51.022521Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: kdr has been classified as Red List (Low Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-12-11T20:02:35.864577Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.26",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: KDR rated as Amber by Tom Cullup as variants only reported in two individuals, one germline one somatic.; to: Comment on list classification: KDR subsequentaly rated as Red by Tom Cullup as \"Susceptibility, rather than diagnostically causative.\" OMIM entry has variants only reported in two individuals, one germline one somatic.",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:52:07.190763Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.26",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: KDR as Amber List (moderate evidence)",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:52:07.184663Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.26",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: KDR rated as Amber by Tom Cullup as variants only reported in two individuals, one germline one somatic.",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:52:07.122398Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.26",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: kdr has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:33:21.853836Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.25",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: ATR as Amber List (moderate evidence)",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:33:21.849824Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.25",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ATR classified as Amber, associated publication is based on just one family, no further reports of gene disease relationship at this time.",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:33:21.828878Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.25",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: atr has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.093977Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: 25029335; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.083904Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19888299; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.073787Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 12740761; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.063294Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15031030; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.051387Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 14985375; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.039987Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14639529; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.030019Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22729224, 23745720; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.020001Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22658544, 22729223, 22729222, 23246288, 22729224; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.009900Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10508515; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:29.000018Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: KDR: Rating: AMBER; Mode of pathogenicity: ; Publications: 18931684, 11807987; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.990467Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 26778290; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.980792Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: 26778290; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.971270Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11845407; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.961735Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11078474; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.952262Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835628, 11807987; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.942652Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: 9649563; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.932295Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: 16638441; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.921518Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28687708; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.911990Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: 7894484; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.901459Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19935664; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.891344Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: 22341969; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.880858Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7792600; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.870971Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18760763; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.860844Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586351; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-12-09T16:11:28.850302Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.24",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8640225; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-12-09T15:40:40.827742Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2019-12-09T15:40:40.805443Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN9A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2019-12-09T15:25:43.078654Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-12-09T15:25:43.037637Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:46.594774Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to ALAS2.\nAdded phenotypes Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.812702Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.20",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:23.549342Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.19",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: ALAS2 was added\ngene: ALAS2 was added to Vascular skin disorders. Sources: Expert Review\nMode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:58:39.591032Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.18",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: ADAMTS13 as Green List (high evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:58:39.587952Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.18",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, ADAMTS13 can be classified as Green.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:58:39.574193Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.18",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:46:31.076085Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.17",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: FECH as Green List (high evidence)",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:46:31.070879Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.17",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, FECH can be classified as Green.",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:46:31.044821Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.17",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: fech has been classified as Green List (High Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:45:10.224821Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.16",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CPOX as Red List (low evidence)",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:45:10.219034Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.16",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPOX should be classified as Red.",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:45:10.190738Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.16",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cpox has been classified as Red List (Low Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:44:31.546956Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.15",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: PPOX as Red List (low evidence)",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:44:31.544020Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.15",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, PPOX should be classified as Red.",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:44:31.528694Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.15",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: ppox has been classified as Red List (Low Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:43:59.921384Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.14",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CPO as Red List (low evidence)",
"entity_name": "CPO",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:43:59.918492Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.14",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPO should be classified as Red.",
"entity_name": "CPO",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:43:59.901787Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.14",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cpo has been classified as Red List (Low Evidence).",
"entity_name": "CPO",
"entity_type": "gene"
},
{
"created": "2019-09-09T15:38:51.630952Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: PPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-09-09T15:38:51.620756Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2019-09-09T15:38:51.610529Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2019-09-09T15:38:51.600095Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: CPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CPO",
"entity_type": "gene"
},
{
"created": "2019-09-09T15:38:51.589884Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-09-09T15:38:51.579701Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-09-06T16:14:33.460405Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: TMEM173.",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2019-09-06T16:14:27.453188Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TMEM173",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2019-09-02T16:00:07.475741Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: PPOX was added\ngene: PPOX was added to Vascular skin disorders. Sources: Expert Review Amber\nMode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-09-02T16:00:07.374273Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FECH was added\ngene: FECH was added to Vascular skin disorders. Sources: Expert Review Amber\nMode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2019-09-02T16:00:07.273441Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: CPOX was added\ngene: CPOX was added to Vascular skin disorders. Sources: Expert Review Amber\nMode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2019-09-02T16:00:07.171199Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: CPO was added\ngene: CPO was added to Vascular skin disorders. Sources: Expert Review Amber\nMode of inheritance for gene: CPO was set to ",
"entity_name": "CPO",
"entity_type": "gene"
},
{
"created": "2019-09-02T16:00:07.069066Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: AP3B1 was added\ngene: AP3B1 was added to Vascular skin disorders. Sources: Expert Review Amber\nMode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-09-02T16:00:06.964195Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Vascular skin disorders. Sources: Expert Review Amber\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-04-17T16:53:38.990113Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.9",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350 to Cowden syndrome 1, 158350; capillary venous malformations",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-04-17T16:52:54.871900Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: PTEN as Amber List (moderate evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-04-17T16:52:54.864576Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: pten has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-04-17T16:52:47.346014Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Vascular skin disorders. Sources: Other\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTEN were set to Cowden syndrome 1, 158350\nAdded comment: Added PTEN to the 'Vascular skin disorders' panel as suggested by Anna de Burca and Ellen Thomas, based on capillary malformations associated with (at least) Cowden syndrome. Rated PTEN as Amber awaiting clinical feedback from skin Webex call. \nSources: Other",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-04-17T16:49:14.055517Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.6",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: On advice from Anna de Burca and Ellen Thomas, changed MOI from 'both monoallelic and biallelic' to 'biallelic' only to match OMIM, which lists\tAR inheritance for 'Ataxia-telangiectasia, 208900'.",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-04-17T16:49:14.039837Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.6",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.837297Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to VEGFA.",
"entity_name": "VEGFA",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.765955Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to IDH2.",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.692065Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to IDH1.",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.606920Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ANTXR1.",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.528328Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to AGGF1.",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.435087Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TMEM173.",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.355986Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TEK.",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.269610Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SOX18.",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.193326Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SMAD4.",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.122319Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SCN9A.",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:42.042276Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to RASA1.",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.965361Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PIK3R2.",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.881715Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.797476Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to KRIT1.",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.720015Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to KDR.",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.645343Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GNAQ.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.564600Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GNA11.",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.466448Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GLMN.",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.378178Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to FOXC2.",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.297372Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to FLT4.",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.215796Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.138612Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to EPHB4.",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:41.060535Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ENG.",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:40.974805Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to CCBE1.",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:40.892296Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ATR.",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:40.811508Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ATM.",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:25:40.722758Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ACVRL1.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.412210Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.396938Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: VEGFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VEGFA",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.381252Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.367767Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.352839Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.337420Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.321537Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.300606Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.284146Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.270569Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.255830Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.240078Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.223670Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.208131Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: IDH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.190947Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.175278Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.162193Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.148582Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.135373Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.118054Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.101979Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.085790Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.068914Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.051862Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.034777Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ANTXR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:37.003631Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:05:36.989150Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.604268Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: EPHB4 was added\ngene: EPHB4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPHB4 were set to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.541081Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: VEGFA was added\ngene: VEGFA was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: VEGFA was set to \nPhenotypes for gene: VEGFA were set to Association with POEMS syndrome",
"entity_name": "VEGFA",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.482057Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM173 was added\ngene: TMEM173 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TMEM173 were set to STING-associated vasculopathy",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.415380Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TEK was added\ngene: TEK was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TEK were set to Venous malformations",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.359555Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SOX18 was added\ngene: SOX18 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.301159Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SMAD4 was added\ngene: SMAD4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.242743Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SCN9A was added\ngene: SCN9A was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SCN9A were set to Erythromyalgia",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.183423Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.122525Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PIK3R2 was added\ngene: PIK3R2 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.065945Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:56.004482Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KRIT1 was added\ngene: KRIT1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS, 116860",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.948914Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KDR was added\ngene: KDR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KDR were set to Susceptibility to infantile haemangioma",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.891896Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IDH2 was added\ngene: IDH2 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IDH2 were set to Ollier disease; Maffucci syndrome",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.836022Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IDH1 was added\ngene: IDH1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IDH1 were set to Ollier disease; Maffucci syndrome",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.778075Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GNAQ was added\ngene: GNAQ was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.714736Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GNA11 was added\ngene: GNA11 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.657967Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GLMN was added\ngene: GLMN was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLMN were set to Glomulovenous malformations",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.598055Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXC2 were set to Lymphoedema-distichiasis syndrome",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.533743Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: FLT4 was added\ngene: FLT4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLT4 were set to Infantile haemangioma; Milroy disease",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.473566Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: F12 was added\ngene: F12 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: F12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: F12 were set to Hereditary angioedema",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.414716Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ENG was added\ngene: ENG was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ENG were set to Hereditary haemorrhagic telengiectasia",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.359076Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: CCBE1 was added\ngene: CCBE1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphoedema syndrome",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.301638Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ATR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.247839Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ATM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia telengiectasia",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.194401Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: ANTXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANTXR1 were set to Susceptibility to infantile haemangioma",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.149420Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AGGF1 was added\ngene: AGGF1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: AGGF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AGGF1 were set to Susceptibility to Klippel-Trenaunay-Weber syndrome",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:04:55.100546Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVRL1 were set to Hereditary haemorrhagic telengiectasia",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2018-12-20T15:08:23.113296Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-16T14:01:10.277888Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Vascular skin disorders\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]