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[
{
"created": "2024-04-02T14:27:30.075756Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency\t300301 to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-03-11T16:22:25.791084Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphedema syndrome, 235510; Hennekam Lymphangiectasia-Lymphedema Syndrome to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2023-11-06T10:41:21.382644Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ERG were changed from primary lymphoedema to primary lymphoedema, MONDO:0019175",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-11-06T10:39:22.241271Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: ERG.\nTag Q4_23_NHS_review tag was added to gene: ERG.",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-11-06T10:36:14.849232Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ERG as Amber List (moderate evidence)",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-11-06T10:36:14.844218Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene submitted by Andrew Mumford (University of Bristol). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 36928819 describes 3 families with frameshift variants (2 nonsense-mediated decay variants and 1 protein truncating variant). There is also a fourth family with a protein truncating variant; however, there are other clinical features and lymphoedema was only identified during chart review. Over expression of mutant cDNA caused mislocalisation of ERG in the cytoplasm, preventing it from binding to DNA and functioning as a transcription factor.\r\n\r\nBased on the above evidence this gene has been given an Amber gene rating and should be promoted to Green at the next GMS review.",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-11-06T10:36:14.796408Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: erg has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-11-06T10:09:56.284794Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ERG were set to ",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-09-06T09:35:07.433518Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.3",
"user_name": "Andrew Mumford",
"item_type": "entity",
"text": "gene: ERG was added\ngene: ERG was added to Primary lymphoedema. Sources: Research\nMode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ERG were set to primary lymphoedema\nPenetrance for gene: ERG were set to Complete\nReview for gene: ERG was set to GREEN\nAdded comment: The association between monoallelic high impact LoF variants in ERG was identified in 4 independent pedigrees in the 100KGP RD main programme and supported by functional evidence of ERG functionality in lymphatic endothelial cells (PMID:36928819) \nSources: Research",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-07-26T10:23:03.705082Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from Lymphatic malformation 7 617300 to Lymphatic malformation 7, OMIM:617300",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:23:46.815544Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_MOI was removed from gene: PIEZO1.",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:23:19.716417Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PIEZO1: 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": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:53:05.627823Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:52:22.785163Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "3.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-03-03T11:57:03.274674Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CHD7.",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:56:51.249336Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CHD7 as Red List (low evidence)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:56:51.240662Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Red List (Low Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:55:47.640029Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ANGPT2.",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:55:03.495694Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CHD7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:55:03.479599Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ANGPT2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:42:20.346574Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: ANGPT2: Changed rating: AMBER",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:38:01.496481Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: ANGPT2: Added comment: PMID 34876502 reports four fetuses with hydrops fetalis were homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguiseious parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.; Changed rating: GREEN; Changed publications to: 34876502; Changed phenotypes to: severe early-onset non-immune hydrops fetalis; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2021-12-09T12:05:25.459861Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ANGPT2 were set to 32908006",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2021-12-09T12:05:15.778196Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.22",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Biallelic variants reported in severe early-onset non-immune hydrops fetalis (PMID 34876502).",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2021-12-09T12:05:15.753842Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.22",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2021-12-09T12:04:10.026957Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:37:44.785154Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI should be updated from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS review. Monoallelic variants are associated with hereditary xerocytosis (MIM# 194380), a phenotype that is not relevant to this panel.",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:37:44.766275Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIEZO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:35:17.705698Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_MOI tag was added to gene: PIEZO1.",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:33:50.169465Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843 to Lymphatic malformation 6, OMIM:616843",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:47:13.297977Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DCHS1 were changed from Van Maldergem syndrome 1, 601390 to Van Maldergem syndrome 1, OMIM:601390",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-08-31T15:09:30.651495Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GJA1 were set to 23550541",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-08-31T15:09:25.463853Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia 164200 to Oculodentodigital dysplasia, OMIM:164200",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:17:09.348379Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: TIE1.",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:17:00.452496Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TIE1 as Amber List (moderate evidence)",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:17:00.447482Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. Based on the expert review this gene has been given an Amber rating until more evidence is available.",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:17:00.385283Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tie1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:15:42.182645Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TIE1 were changed from Lymphatic malformation 11, MIM#\t619401 to Lymphatic malformation 11, OMIM:619401",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-07-08T08:41:20.215408Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIE1 was added\ngene: TIE1 was added to Primary lymphoedema. Sources: Literature\nMode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TIE1 were set to 32947856; 24764452\nPhenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM#\t619401\nReview for gene: TIE1 was set to AMBER\nAdded comment: Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad, hence Amber rating suggested. \nSources: Literature",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-06-21T15:32:43.777038Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CELSR1 were changed from hereditary lymphedema to Lymphatic malformation 9, OMIM:619319",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:39:01.569292Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ARAP3 as Amber List (moderate evidence)",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:39:01.566654Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:39:01.546114Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: arap3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:38:18.116330Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: ARAP3.",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:32:33.724005Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: RORC as Amber List (moderate evidence)",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:32:33.721245Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been rated Amber.",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:32:33.700045Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: rorc has been classified as Amber List (Moderate Evidence).",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:31:07.375362Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: RORC.",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:48:24.903532Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RORC were changed from Lymphoedema to Lymphoedema, MONDO:0019297",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:45:48.627501Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-04-17T07:34:53.359418Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RORC was added\ngene: RORC was added to Primary lymphoedema. Sources: Literature\nMode of inheritance for gene: RORC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RORC were set to 32960152\nPhenotypes for gene: RORC were set to Lymphoedema\nReview for gene: RORC was set to AMBER\nAdded comment: Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency. Moderate/limited evidence for gene-disease association. \nSources: Literature",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-17T07:32:45.541600Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARAP3 was added\ngene: ARAP3 was added to Primary lymphoedema. Sources: Literature\nMode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARAP3 were set to 32908855\nPhenotypes for gene: ARAP3 were set to Lymphoedema\nReview for gene: ARAP3 was set to AMBER\nAdded comment: Three unrelated families reported with rare missense variants in this gene as part of a lymphoedema cohort. However, incomplete information regarding segregation and no supporting functional data. \nSources: Literature",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-01-28T15:09:18.002970Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS3 were changed from Hennekam syndrome; Hennekam lymphangiectasia-lymphedema syndrome 3 to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-12-24T11:57:45.402251Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-10-05T13:22:09.508925Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ANGPT2.",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T13:22:01.805286Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ANGPT2 as Amber List (moderate evidence)",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T13:22:01.772940Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence for this gene to be rated Green, which will occur at the next major review/update.",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T13:22:01.679033Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: angpt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T13:05:40.381972Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: FBXL7 as Red List (low evidence)",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-10-05T13:05:40.370209Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. There is only 1 case and therefore not enough evidence to support a gene-disease association.",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-10-05T13:05:40.315397Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: fbxl7 has been classified as Red List (Low Evidence).",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-10-05T06:53:55.709427Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANGPT2 was added\ngene: ANGPT2 was added to Primary lymphoedema. Sources: Literature\nMode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANGPT2 were set to 32908006\nPhenotypes for gene: ANGPT2 were set to Primary lymphoedema\nReview for gene: ANGPT2 was set to GREEN\nAdded comment: Five unrelated individuals reported with primary lymphedema and variants in this gene, together with functional data. \nSources: Literature",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:48:23.615908Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXL7 was added\ngene: FBXL7 was added to Primary lymphoedema. Sources: Literature\nMode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXL7 were set to 31633297\nPhenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphoedema\nReview for gene: FBXL7 was set to RED\nAdded comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. \r\nPatient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. \nSources: Literature",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-07-07T08:23:33.125124Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:02:57.465535Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CHD7.",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-03-27T22:19:47.297526Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-03-02T17:15:31.271310Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-13T16:41:18.103298Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTPN14",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2019-10-02T14:10:33.741555Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "2.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-02T14:07:06.076032Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.123",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-09T16:01:18.352332Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.122",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from Lymphatic Disorders; Meiges disease; Meige disease; Milroy disease; Lymphoedema distichiasis; Lipoedema disease to Lymphatic Disorders; Meiges disease; Meige disease; Milroy disease; Lymphoedema distichiasis; Lipoedema disease; R136",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-04T14:00:34.218261Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.121",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2019-09-04T14:00:02.432760Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:59:26.991716Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.119",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from to ?Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis, somatic 606690; Tuberous sclerosis-2 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:59:22.177404Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from to Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis 606690; Tuberous sclerosis-1 191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:57:30.820951Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TSC1 as Green List (high evidence)",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:57:30.818344Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:57:30.797620Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:57:22.573537Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TSC2 as Green List (high evidence)",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:57:22.566597Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:57:22.518553Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:56:47.745590Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NSD1 as Green List (high evidence)",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:56:47.738635Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:56:47.692960Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Green List (High Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:56:27.448398Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: RASA1 as Green List (high evidence)",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:56:27.445456Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-09-04T13:56:27.423041Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Green List (High Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-08-30T10:01:10.093792Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.113",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: DCHS1 as ready",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T10:01:10.087723Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.113",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: dchs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:48:14.739074Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.113",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TSC2 as Amber List (moderate evidence)",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:48:14.735770Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.113",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Prof Sahar Mansour (St George's Hospital, London) lymphoedema has been reported with tuberous sclerosis once or twice in the literature and we have a couple of patients but it is rare and there are usually other clues to the diagnosis.",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:48:14.720120Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.113",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:47:39.760369Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.112",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TSC1 as Amber List (moderate evidence)",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:47:39.757361Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.112",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Prof Sahar Mansour (St George's Hospital, London) lymphoedema has been reported with tuberous sclerosis once or twice in the literature and we have a couple of patients but it is rare and there are usually other clues to the diagnosis.",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:47:39.742980Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.112",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:42:21.430873Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.111",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NSD1 as Amber List (moderate evidence)",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:42:21.425902Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.111",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: According to Prof Sahar Mansour (St Georges Hospital, London), lymphoedema has been reported in some cases of Sotos syndrome 1 117550.",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:42:21.400648Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.111",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:37:55.659433Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.110",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 117550",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:34:52.806293Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.109",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: NSD1 were set to 9781911",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:23:00.077341Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.108",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) \"Lymphatic malformations have been reported in several individuals [de Wijn et al 2012, Burrows et al 2013, Macmurdo et al 2016], including one individual with RASA1-related Parkes Weber syndrome. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles on the groin [Burrows et al 2013]. Whether these lymphatic abnormalities are progressive is not yet known.\"; to: Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) \"Lymphatic malformations have been reported in several individuals [PMIDs 26969842, 23650393, 22342634], including one individual with RASA1-related Parkes Weber syndrome. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles on the groin [PMID 23650393]. Whether these lymphatic abnormalities are progressive is not yet known.\"",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:19:18.468089Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.108",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RASA1 as Amber List (moderate evidence)",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:19:18.464873Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.108",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) \"Lymphatic malformations have been reported in several individuals [de Wijn et al 2012, Burrows et al 2013, Macmurdo et al 2016], including one individual with RASA1-related Parkes Weber syndrome. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles on the groin [Burrows et al 2013]. Whether these lymphatic abnormalities are progressive is not yet known.\"",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:19:18.449362Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.108",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:15:50.432164Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.107",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RASA1 were set to ",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-08-23T17:12:11.237003Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.106",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1 608354",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-08-22T13:36:59.975405Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.105",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: PMI is old gene name (15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with condition on G2P).; to: PMI is old gene name (15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with a condition on G2P).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2019-08-22T13:36:33.811303Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.105",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: PMI is old gene name ( 15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with condition on G2P).; to: PMI is old gene name (15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with condition on G2P).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2019-08-22T13:13:10.076074Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.105",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Penetrance for gene CELSR1 was set from to None",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2019-08-22T13:12:51.080372Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.104",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CELSR1 as Green List (high evidence)",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2019-08-22T13:12:51.077145Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.104",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 7 variants reported, showing incomplete penetrance, whereby male carries did not manifest with lymphoedema except in later life (PMID 31215153).",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2019-08-22T13:12:51.061598Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.104",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: celsr1 has been classified as Green List (High Evidence).",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2019-08-22T13:07:21.057494Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.103",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CELSR1 was added\ngene: CELSR1 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CELSR1 were set to 31403174; 26855770; 31215153\nPhenotypes for gene: CELSR1 were set to hereditary lymphedema\nReview for gene: CELSR1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2019-08-22T12:39:09.819383Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.102",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CHD7 were set to ",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2019-08-22T12:38:16.444676Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.101",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Variants are also associated with Hypogonadotropic hypogonadism 5 with or without anosmia 612370, but this is not relevant to this panel.",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2019-08-22T12:38:16.423786Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.101",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2019-08-22T12:37:24.119041Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.100",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CHD7 as Green List (high evidence)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2019-08-22T12:37:24.108239Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.100",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2019-08-22T12:37:15.297854Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.99",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD7 were set to CHARGE syndrome 214800\nReview for gene: CHD7 was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for CHARGE syndrome 214800. At least 14 variants reported associated with CHARGE syndrome 214800. \nSources: Expert list",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2019-08-22T12:28:41.474168Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.98",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "removed gene:CDH7 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-24T13:26:03.393141Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.97",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: PMM2 as Green List (high evidence)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-07-24T13:26:03.390572Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.97",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported.",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-07-24T13:26:03.375371Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.97",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-07-24T13:25:22.890582Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.96",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SHANK3 as Green List (high evidence)",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2019-07-24T13:25:22.887482Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.96",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2019-07-24T13:25:22.868739Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.96",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:55:21.532042Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: HGF were set to ",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:55:02.936113Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.94",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MET were set to ",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:53:59.773041Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.93",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: VEGFC were set to 23410910; 24744435; 14634646",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:53:23.546395Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.92",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: NSD1 were set to ",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:52:58.560704Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.91",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to ",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:52:41.523338Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.90",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:52:19.546111Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.89",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CDH7 were set to ",
"entity_name": "CDH7",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.792848Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: HGF: Rating: RED; Mode of pathogenicity: ; Publications: 18564920; Phenotypes: Primary and Secondary Lymphedema; Mode of inheritance: Unknown",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.782140Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: 18564920; Phenotypes: Primary and Secondary Lymphedema; Mode of inheritance: Unknown",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.770916Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: ADAMTS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28985353, 30450763; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3 618154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.759272Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.745295Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: VEGFC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30071673, 23410910; Phenotypes: Congenital Primary Lymphoedema of Gordon, Lymphatic malformation 4 615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.733982Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380, Lymphatic malformation 6 616843; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.718679Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 2 618196, Lymphatic malformation 7 617300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.701031Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: ; Publications: 9781911; Phenotypes: Sotos syndrome 1 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.686457Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.669173Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ALG8: Rating: RED; Mode of pathogenicity: ; Publications: 12480927, 15235028; Phenotypes: Congenital disorder of glycosylation, type Ih 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.646937Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: MPI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.627135Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17158594, 9762608, 15645285, 20638314; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.611427Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis, somatic 606690, Tuberous sclerosis-2 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.599637Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis 606690, Tuberous sclerosis-1 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.588817Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CDH7: Rating: RED; Mode of pathogenicity: ; Publications: 22765916, 24554215; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CDH7",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:46:19.573863Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phelan-McDermid syndrome 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:31:41.466930Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.87",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: MET",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:30:59.747741Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.87",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HGF",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:29:52.736406Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.87",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:27:16.306172Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.86",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. Three variants in two cases, together with supportive functional studies (PMID 30450763).; to: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. At lease three variants in two cases, together with supportive functional studies (PMID 30450763).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:26:12.551006Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.86",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ADAMTS3 were set to 28985353; 28687807; 26446156",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:25:48.983817Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.85",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: ADAMTS3.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:25:39.123565Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.85",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ADAMTS3 as Green List (high evidence)",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:25:39.121131Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.85",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. Three variants in two cases, together with supportive functional studies (PMID 30450763).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:25:39.080230Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.85",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:13:24.303756Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.84",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. ; to: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 2 variants reported in 3 cases.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-07-24T10:10:01.393416Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.84",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. ; to: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. ",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-07-24T09:54:28.674273Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.84",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported; to: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in Lymphatic malformation 6 616843",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-07-24T09:37:58.067002Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.84",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-07-24T09:37:24.408782Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.84",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Lymphatic malformation 6 616843 was previously known as Lymphedema, hereditary, III 616843",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-07-24T09:37:24.384053Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.84",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.561324Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: HGF was added\ngene: HGF was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: HGF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.524135Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MET was added\ngene: MET was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: MET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.474041Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert list was added to ADAMTS3.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.419573Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert list was added to IKBKG.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.360877Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene VEGFC was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.310589Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene PIEZO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.256646Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.213471Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NSD1 was added\ngene: NSD1 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.169057Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.129132Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ALG8 was added\ngene: ALG8 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.088216Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.048182Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:54.007131Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:53.965677Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:53.929502Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CDH7 was added\ngene: CDH7 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: CDH7 was set to ",
"entity_name": "CDH7",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:52:53.885495Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.83",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SHANK3 was added\ngene: SHANK3 was added to Primary lymphoedema. Sources: Expert list\nMode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2019-07-09T12:50:29.315229Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.82",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: TTR were set to ",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-07-09T12:50:16.084900Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.81",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: TTR: Rating: ; Mode of pathogenicity: None; Publications: 30878017, 31131842, 31118583, 31111153, 30120737; Phenotypes: Amyloidosis, hereditary, transthyretin-related 105210; Mode of inheritance: None",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-07-09T12:49:28.077602Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.81",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TTR.",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:52:38.823210Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.81",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SPRED1 were set to ",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:52:30.732611Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.80",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SPRED1 as Green List (high evidence)",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:52:30.729029Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.80",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:52:30.705720Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.80",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: spred1 has been classified as Green List (High Evidence).",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:52:10.219780Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.79",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to ",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:52:02.513388Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.78",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SOS2 as Green List (high evidence)",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:52:02.510480Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.78",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:52:02.469680Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.78",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: sos2 has been classified as Green List (High Evidence).",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:51:42.955835Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.77",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SOS1 were set to ",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:51:34.625360Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.76",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SOS1 as Green List (high evidence)",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:51:34.622081Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.76",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:51:34.597420Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.76",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Green List (High Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:51:11.468565Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.75",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SHOC2 were set to ",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:51:01.214940Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.74",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SHOC2 as Green List (high evidence)",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:51:01.211882Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.74",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:51:01.182088Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.74",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Green List (High Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:50:23.950313Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.73",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RIT1 were set to ",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:50:12.665807Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.72",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RIT1 as Green List (high evidence)",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:50:12.663454Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.72",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:50:12.640934Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.72",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: rit1 has been classified as Green List (High Evidence).",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:49:40.986472Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.71",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RAF1 were set to ",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:49:30.146227Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.70",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RAF1 as Green List (high evidence)",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:49:30.143450Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.70",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:49:30.117384Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.70",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:48:51.780532Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.69",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PTPN11 were set to ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:48:41.203739Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.68",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Green List (high evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:48:41.200613Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.68",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:48:41.175358Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.68",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:47:47.900077Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.67",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PPP1CB were set to ",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:47:37.537337Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.66",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: PPP1CB as Green List (high evidence)",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:47:37.534263Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.66",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:47:37.511366Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.66",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ppp1cb has been classified as Green List (High Evidence).",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:46:44.311956Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.65",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: NRAS were set to ",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:46:29.528569Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.64",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NRAS as Green List (high evidence)",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:46:29.525781Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.64",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:46:29.502087Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.64",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: nras has been classified as Green List (High Evidence).",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:46:09.263335Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.63",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NF1 as Green List (high evidence)",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:46:09.260396Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.63",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:46:09.236656Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.63",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:45:40.911243Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.62",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: NF1 were set to ",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:45:29.246864Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.61",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NF1 as Green List (high evidence)",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:45:29.241695Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.61",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:45:08.244342Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.60",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MAP2K2 were set to ",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:44:58.763017Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.59",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: MAP2K2 as Green List (high evidence)",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:44:58.760219Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.59",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:44:58.728547Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.59",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: map2k2 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:44:25.136145Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.58",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MAP2K1 were set to ",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:44:06.255472Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.57",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: MAP2K1 as Green List (high evidence)",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:44:06.253185Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.57",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:44:06.229381Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.57",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:43:23.111128Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.56",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: LZTR1 were set to ",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:43:15.616189Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.55",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: LZTR1 as Green List (high evidence)",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:43:15.612602Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.55",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:43:15.583050Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.55",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: lztr1 has been classified as Green List (High Evidence).",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:42:49.925909Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.54",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: KRAS were set to ",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:42:40.575871Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.53",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: KRAS as Green List (high evidence)",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:42:40.573671Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.53",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:42:40.549897Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.53",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: kras has been classified as Green List (High Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:42:10.469525Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.52",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: HRAS were set to ",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:42:00.886000Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.51",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: HRAS as Green List (high evidence)",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:42:00.883461Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.51",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:42:00.853520Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.51",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: hras has been classified as Green List (High Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:41:23.830936Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.50",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CBL as Green List (high evidence)",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:41:23.825000Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.50",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cbl has been classified as Green List (High Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:41:10.748193Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.49",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CBL were set to ",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:41:01.284835Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.48",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CBL as Red List (low evidence)",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:41:01.280627Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.48",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:41:01.260587Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.48",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cbl has been classified as Red List (Low Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:40:26.131419Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.47",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: BRAF as Green List (high evidence)",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:40:26.127412Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.47",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:40:26.094862Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.47",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:37:26.593415Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.46",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: BRAF were set to ",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.429314Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704776, 19366998, 19443465, 21649642, 21548021; Phenotypes: Legius syndrome 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.414378Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25795793, 26173643; Phenotypes: Noonan syndrome 9 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.399542Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19438935, 17143285, 17143282, 17586837; Phenotypes: Noonan syndrome 4 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.384509Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19684605, 22528146, 23918763; Phenotypes: Noonan-like syndrome with loose anagen hair 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.369199Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23791108, 25124994, 24939608; Phenotypes: Noonan syndrome 8 615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.355182Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17603483, 17603482; Phenotypes: LEOPARD syndrome 2 611554, Noonan syndrome 5 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.340504Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 17603483, 11704759, 12529711, 12634870, 15384080, 15240615, 16263833, 17497712, 18678287; Phenotypes: LEOPARD syndrome 1 151100, Noonan syndrome 1 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.325540Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27264673, 28211982, 27681385; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.309292Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19966803, 19775298; Phenotypes: Noonan syndrome 6 613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.279102Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380919, 19845691, 12707950; Phenotypes: Neurofibromatosis-Noonan syndrome 601321, Neurofibromatosis, type 1 162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.260900Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21396583, 23379592; Phenotypes: Cardiofaciocutaneous syndrome 4 615280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.242585Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21396583, 23321623; Phenotypes: Cardiofaciocutaneous syndrome 3 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.222882Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25795793, 29469822; Phenotypes: Noonan syndrome 10 616564 , Schwannomatosis-2, susceptibility to 615670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.204475Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 21396583; Phenotypes: Noonan syndrome 3 609942, Cardiofaciocutaneous syndrome 2 615278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.187492Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16170316, 16969868, 16443854, 21396583; Phenotypes: Costello syndrome 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.170377Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20619386, 20543203, 19571318; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:36:25.151751Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.45",
"user_name": "Sahar Mansour",
"item_type": "entity",
"text": "reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: 19206169, 21396583; Phenotypes: LEOPARD syndrome 3 613707, Cardiofaciocutaneous syndrome 115150, Noonan syndrome 7 613706; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:20.276924Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SPRED1 was added\ngene: SPRED1 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPRED1 were set to Legius syndrome 611431",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:20.234897Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SOS2 was added\ngene: SOS2 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOS2 were set to Noonan syndrome 9 616559\nMode of pathogenicity for gene: SOS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:20.192374Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SOS1 was added\ngene: SOS1 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOS1 were set to Noonan syndrome 4 610733\nMode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:20.148630Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SHOC2 was added\ngene: SHOC2 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair 607721",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:20.107214Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: RIT1 was added\ngene: RIT1 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RIT1 were set to Noonan syndrome 8 615355\nMode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:20.067754Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RAF1 were set to Noonan syndrome 5 611553; LEOPARD syndrome 2 611554\nMode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:20.029816Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTPN11 were set to Noonan syndrome 1 163950; LEOPARD syndrome 1 151100\nMode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.991872Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PPP1CB was added\ngene: PPP1CB was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2 617506",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.952740Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NRAS was added\ngene: NRAS was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NRAS were set to Noonan syndrome 6 613224\nMode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.913829Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.876689Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MAP2K2 was added\ngene: MAP2K2 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280\nMode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.821676Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3 615279\nMode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.783359Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: LZTR1 was added\ngene: LZTR1 was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.744672Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KRAS were set to Noonan syndrome 3 609942; Cardiofaciocutaneous syndrome 2 615278\nMode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.707214Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HRAS were set to Costello syndrome 218040\nMode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.668425Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CBL was added\ngene: CBL was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563\nMode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-06-27T15:33:19.619088Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Primary lymphoedema. Sources: Expert Review\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BRAF were set to LEOPARD syndrome 3 613707; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150\nMode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-06-19T16:09:37.597148Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.42",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III\t616843; Generalised lymphatic dysplasia to Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-06-19T16:03:21.918072Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.41",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2019-06-19T16:00:30.408971Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.40",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia with primary lymphoedem 164200 to Oculodentodigital dysplasia 164200",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:58:37.158797Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.39",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Emberger syndrome (Primary Lymphedema with Myelodysplasia) 614038",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:58:37.086671Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.39",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GATA2 were changed from Primary Lymphedema with Myelodysplasia (Emberger Syndrome) 614038 to Emberger Syndrome 614038; {Myelodysplastic syndrome, susceptibility to}\t614286",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:24:18.381823Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.38",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previously known as Milroy disease.",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:24:18.367909Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.38",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: FLT4 were changed from Lymphedema, hereditary, IA 153100 to Lymphedema, hereditary, IA 153100",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:13:10.520389Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.37",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:09:08.421924Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.37",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: EPHB4 were set to 27400125",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:08:47.069127Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.36",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This can manifest with fetal hydrops or Atrial septal defect.",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:08:47.047339Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.36",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from Autosomal Dominant Lymphatic Related Hydrops Fetalis to Lymphatic malformation 7 617300",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:10.085704Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:10.072332Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: ADAMTS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:10.059690Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: VEGFC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:10.046930Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: SOX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:10.034606Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:10.021524Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:10.009712Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.996925Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.984508Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.971821Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.959020Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.945874Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.934082Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.921317Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.908823Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.875619Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to DCHS1.",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.819498Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to ADAMTS3.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.762115Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to VEGFC.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.706859Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to SOX18.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.645731Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to PTPN14.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.589663Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to PIEZO1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.534829Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KIF11.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.479597Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to GJC2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.422866Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to GJA1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.364849Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to GATA2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.307699Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to FOXC2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.252747Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to FLT4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.192208Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to FAT4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.137993Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to EPHB4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.083267Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to CCBE1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2018-11-16T13:33:08.335511Z",
"panel_name": "Primary lymphoedema",
"panel_id": 65,
"panel_version": "1.32",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Lymphatic Disorders to Primary lymphoedema\nList of related panels changed from Meiges disease;Meige disease;Milroy disease;Lymphoedema distichiasis;Lipoedema disease;Primary lymphoedema to Lymphatic Disorders; Meiges disease; Meige disease; Milroy disease; Lymphoedema distichiasis; Lipoedema disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-12T13:57:21.148370Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.31",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-09-29T15:09:53.055886Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.30",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: DCHS1.",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2018-09-29T15:09:44.242654Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.30",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: DCHS1 as Amber List (moderate evidence)",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2018-09-29T15:09:44.240114Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.30",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Amber as agreed with Helen Brittain and Anna De Burca: Insufficient evidence for diagnostic grade but features on St. George's Primary Lymphedema Disorders gene panel. Note that Prof. Sahar Mansour (St. George's hospital) confirmed via email thread that they have not seen cases.",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2018-09-29T15:09:44.220752Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.30",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: dchs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2018-09-29T15:09:17.801516Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.29",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: ADAMTS3.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-29T15:09:09.613738Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.29",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: ADAMTS3 as Amber List (moderate evidence)",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-29T15:09:09.609679Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.29",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Amber as agreed with Helen Brittain and Anna De Burca: Insufficient evidence for diagnostic grade but features on St. George's Primary Lymphedema Disorders gene panel. Note that Prof. Sahar Mansour (St. George's hospital) confirmed via email thread that they have not seen cases.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-29T15:09:09.561265Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.29",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-24T18:45:39.234855Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.28",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Added comment: Comment on publications: 3 homozygous variants in 3 unrelated consanguineous families with Van Maldergem syndrome. Lymphoedema is not a feature of Van Maldergem syndrome but Hennekam lymphoedema can be caused by mutations in FAT4 (the receptor for DHCS1) and this paper also reports variants in FAT4 in Van Maldergem syndrome. PMID: 24913602 states that there is considerable overlap in phenotype between the two conditions.",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2018-09-24T18:45:39.187009Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.28",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Publications for gene: DCHS1 were set to ",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:18:59.477385Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.27",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: PTPN14 as Green List (high evidence)",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:18:59.474471Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.27",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Red to Green following request from Athina Ververi (GOSH), and advice from Helen Brittain. Green expert review, two literature cases (2010/PMID:20826270 and 2017/Bordbar et al), plus mouse model (PMID:20826270). PTPN14 is on the St. George's hospital Primary Lymphedema Disorders 15 Gene Panel, and it is recorded in literature and from clinical review that variants in PTPN14 are a rare cause of lymphedema.",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:18:59.456910Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.27",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: ptpn14 has been classified as Green List (High Evidence).",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:11:28.274784Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.26",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: PTPN14: Au et al (2010, PMID:20826270) provide a mouse model of PTPN14 deficiency where 14% of mutant animals showed swelling of limb extremeties.",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-09-18T12:39:23.942580Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.26",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: DCHS1 was added\ngene: DCHS1 was added to Lymphatic Disorders. Sources: UKGTN\nMode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390\nAdded comment: Added DCHS1 to panel as requested by Athina Ververi at GOSH, because DCHS1 is on the St. George's lymphoedema 15-gene panel (September 2017). DCHS1 is a ligand for FAT4 (Green gene on this panel), and current evidence appears to be biochemical rather than variant case studies so kept rating as Red. \nSources: UKGTN",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2018-09-18T12:34:10.952221Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.25",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source UKGTN was added to PTPN14.",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-09-18T12:15:58.818814Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.24",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: PTPN14.",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-09-18T12:14:15.501221Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.24",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source UKGTN was added to ADAMTS3.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-18T12:13:49.873717Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.23",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: ADAMTS3 as Red List (low evidence)",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-18T12:13:49.870805Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.23",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Kept rating as Red as currently insufficient cases for diagnostic grade (1 family in Brouillard et al. 2017).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-18T12:13:49.853213Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.23",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Red List (Low Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-18T12:11:55.944619Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.22",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: ADAMTS3: Added to panel as requested by Athina Ververi (GOSH) based on presence of ADAMTS3 on the St. George's Primary Lymphedema Disorders 15 Gene Panel.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-17T15:17:51.047933Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.22",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: ADAMTS3 were set to 28985353; 28687807",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-17T15:17:25.230984Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.21",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: ADAMTS3: Mouse model for role of ADAMTS3 in lymphatic development is reported in PMID:26446156 (2016), with knockout mice exhibiting a massive lymphedema.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-17T15:15:55.553213Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.21",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: ADAMTS3: PMID:28687807 (Jha et al., 2017) test a R565Q missense substitution in ADAMTS3 which was originally identified as a rare heterozygous polymoprhism in a lymphedema patient and in 6 unaffected members of the studied family as well as in 236 alleles in ExAC.",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-17T15:15:48.613138Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.21",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: ADAMTS3",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-17T15:14:44.124973Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.21",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ADAMTS3 was added\ngene: ADAMTS3 was added to Lymphatic Disorders. Sources: Other\nMode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS3 were set to 28985353; 28687807\nPhenotypes for gene: ADAMTS3 were set to Hennekam syndrome; Hennekam lymphangiectasia-lymphedema syndrome 3",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2018-09-17T14:41:08.335444Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.20",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: PTPN14: Bordbar et al (2017, https://www.sciencedirect.com/science/article/pii/S2214540017300543) report an Iranian family with a single child with bilateral choanal atresia and infantile-onset lymphedema. Screening of PTPN14 revealed a novel homozygous frameshift insertion in exon4 (p.(Leu135Tyrfs*5). This forms the second reported family with choanal atresia and lymphedema syndrome.",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-09-17T14:26:30.750557Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.20",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene PTPN14 were changed from 20826270 to 20826270; 24167460",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-09-17T14:26:08.434390Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": "1.19",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: PTPN14",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:55:01.687000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ZNHIT3",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:54:14.256000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified ZNHIT3 as red",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:51:32.044000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "added ZNHIT3 to panel",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:51:31.872000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed ZNHIT3",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:48:25.692000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified CCDC88A as red",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2017-08-15T10:46:26.274000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CCDC88A",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2016-11-02T14:41:34.954000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "promoted panel to version 1",
"entity_name": null,
"entity_type": null
},
{
"created": "2016-11-02T11:17:56.732000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked CDC42 as ready",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2016-11-02T11:17:56.731000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on CDC42",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2016-11-02T11:07:29.948000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked VEGFC as ready",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2016-11-02T11:07:29.946000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on VEGFC",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2016-11-02T11:02:07.661000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked SOX18 as ready",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:58:23.742000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked PIEZO1 as ready",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:57:45.040000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on PIEZO1",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:54:14.078000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked KIF11 as ready",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:54:14.077000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on KIF11",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:52:48.911000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:50:27.206000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on IKBKG",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:44:29.564000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked GJC2 as ready",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:39:48.241000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on GJC2",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:35:11.283000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked GATA2 as ready",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2016-11-02T10:28:53.821000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on GATA2",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2016-11-02T09:35:21.021000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on GJA1",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2016-11-01T17:03:17.674000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked CCDC88A as ready",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2016-11-01T17:03:17.673000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on CCDC88A",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:53:11.017000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked AQP1 as ready",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:52:22.515000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on AQP1",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:15:11.742000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked ALX3 as ready",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:11:00.986000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified ALX3 as red",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:11:00.986000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on ALX3",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:08:12.960000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked PTPN14 as ready",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:08:12.958000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on PTPN14",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:02:44.092000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:01:27.593000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on TTR",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2016-11-01T16:01:27.593000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified TTR as red",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2016-11-01T15:51:56.871000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "commented on PTPN14",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2016-11-01T15:51:56.791000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed TTR",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2016-11-01T15:51:56.708000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed EPHB4",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2016-11-01T15:51:56.623000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed CDC42",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2016-11-01T15:51:56.540000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed CCDC88A",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2016-11-01T15:51:56.453000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed AQP1",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2016-11-01T15:51:56.374000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed ALX3",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2016-10-28T08:02:21.841000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "edited their review of PTPN14",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2016-10-28T08:02:21.759000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed TTR",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2016-10-28T08:02:21.676000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "edited their review of EPHB4",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2016-10-28T08:02:21.591000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed CDC42",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2016-10-28T08:02:21.507000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed CCDC88A",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2016-10-28T08:02:21.422000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed AQP1",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2016-10-28T08:02:21.342000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Pia Ostergaard",
"item_type": "entity",
"text": "reviewed ALX3",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2016-10-26T15:35:51.872000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked EPHB4 as ready",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2016-10-26T15:33:23.275000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified EPHB4 as green",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2016-10-26T15:20:28.375000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on EPHB4",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2016-10-04T10:40:07.015000Z",
"panel_name": "Lymphatic Disorders",
"panel_id": 65,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "approved panel",
"entity_name": null,
"entity_type": null
}
]