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[
{
"created": "2024-03-27T16:40:55.620311Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "4.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: HYLS1.",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2024-02-26T12:23:29.310409Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "4.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CLIC2 were changed from ?Mental retardation, X-linked, syndromic 32, OMIM:300886 to Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2023-12-27T12:19:40.557586Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "4.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_21_expert_review was removed from gene: MYMK.\nTag Q4_21_rating was removed from gene: MYMK.\nTag Q4_21_phenotype was removed from gene: MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2023-12-27T12:18:23.872648Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "4.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_21_expert_review was removed from gene: HYLS1.\nTag Q4_21_rating was removed from gene: HYLS1.",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:47:48.128533Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "4.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: ERF.\nTag Q2_21_expert_review was removed from gene: ERF.",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:59:25.952681Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "4.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 4.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T14:58:50.339301Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "4.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 4.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-14T21:49:43.553745Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Adding the OMIM phenotype and removing the gene-checked tag.",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T21:49:43.535483Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities; {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T21:48:48.009464Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked was removed from gene: SMARCC1.",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:52:09.154887Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:52:06.164697Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:32:08.411808Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_21_MOI was removed from gene: AP1S2.",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:24:34.628366Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: AP1S2: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:23:51.075900Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: AP1S2: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:17:03.766840Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: AP1S2",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:13:45.847130Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-11-30T13:49:28.414774Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"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": "2022-11-30T13:48:44.944271Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"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": "2022-11-30T13:40:48.043114Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"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": "2022-10-12T14:52:27.998527Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.132",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. \r\n\r\nAs no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. \r\n\r\nAs it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:09:15.665996Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.132",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: HYLS1",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:08:45.443558Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.132",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: HYLS1.",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:03:44.347838Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.132",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: MYMK",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:00:50.457102Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.132",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:33:54.177164Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.132",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: ERF",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:33:26.137352Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.132",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: ERF.",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2022-09-22T15:58:24.837259Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.132",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2022-07-05T09:27:42.833103Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.131",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-07-05T09:21:45.098174Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.130",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, OMIM:310400 to Myopathy, centronuclear, X-linked, OMIM:310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-06-30T16:09:02.290354Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.129",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-06-30T15:33:08.664817Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.129",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: KIAA1109.",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-06-30T15:32:08.661107Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.129",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: KIAA1109: Added comment: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; Changed phenotypes to: Alkuraya-Kucinskas syndrome 617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:55:44.825898Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.129",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TRIM71.",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2022-05-08T18:29:34.744623Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.129",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: SMARCC1.",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2022-05-08T17:59:30.783691Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.129",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TBC1D32.",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2022-04-12T13:18:56.984657Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.129",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CLIC2 as Red List (low evidence)",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2022-04-12T13:18:56.978144Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.129",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: clic2 has been classified as Red List (Low Evidence).",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2022-04-12T13:17:42.310217Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.128",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CLIC2 were set to 22814392",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2022-04-12T13:16:05.589635Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 28333917, 31349857, 22814392; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2022-03-15T17:50:23.432938Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-03-15T17:49:17.789646Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-03-15T17:48:42.873902Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: MYMK: As the recommendation is to demote MYMK from Green to Amber on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-03-15T17:48:12.354071Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-03-15T17:46:43.998489Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-03-15T17:44:49.043916Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: HYLS1.",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-03-15T17:43:16.240756Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2022-03-15T17:39:28.829496Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: ERF.",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:53:56.518684Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: B4GAT1.",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:53:49.933185Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: EEF2.",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:53:42.747935Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag deletions was removed from gene: KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:53:18.866128Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: KIDINS220.\nTag deletions tag was added to gene: KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:53:13.788991Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: MPDZ.",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:53:09.427173Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: SMARCC1.",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:53:04.048090Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: TBC1D32.",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:58.624081Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: TCIRG1.",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:54.165326Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: TNFRSF11A.",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:48.073520Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: TRIM71.",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.890210Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TRIM71",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.870769Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TNFRSF11A",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.853369Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TCIRG1",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.843859Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TBC1D32",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.834567Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SMARCC1",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.823397Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: MPDZ",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.811523Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: KIDINS220",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.801470Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: EEF2",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:23.791739Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: B4GAT1",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:20.144903Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRIM71.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:20.053856Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TNFRSF11A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:19.966883Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TCIRG1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:19.888523Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TBC1D32.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:19.808030Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to SMARCC1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:19.728915Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to MPDZ.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:19.647930Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to KIDINS220.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:19.569811Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to EEF2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2022-03-14T13:52:19.483017Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to B4GAT1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-11-18T16:19:00.351739Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.125",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Added relevant phenotype now listed in OMIM (MIM# 619501)",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-11-18T16:19:00.327918Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.125",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIDINS220 were changed from brain ventriculomegaly and limb contractures to Ventriculomegaly and arthrogryposis, OMIM:619501",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-11-10T12:04:43.306153Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.124",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag currently-ngs-unreportable was removed from gene: FMR1.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2021-11-10T12:03:07.576587Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.124",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FMR1 were changed from Fragile X syndrome 300624 to Fragile X syndrome, OMIM:300624",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2021-11-10T12:02:18.957076Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.123",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: FMR1.\nTag currently-ngs-unreportable tag was added to gene: FMR1.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:32:13.887357Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.123",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_expert_review tag was added to gene: HYLS1.",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:29:04.162201Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.123",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TNFRSF11A as Amber List (moderate evidence)",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:29:04.159441Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.123",
"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. Based on the expert review there is enough evidnece for this gene to be Green on this panel.",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:29:04.137755Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.123",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tnfrsf11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:28:17.833665Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: TNFRSF11A.",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:18:23.003356Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.122",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AP1S2 were set to 17186471",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:50:02.883400Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.121",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_MOI tag was added to gene: AP1S2.",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:49:54.150984Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.121",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. \r\n\r\nAs no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:49:54.123233Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.121",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:03:40.117836Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: TBC1D32.",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:03:01.586694Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Rare multisystem ciliopathy disorders v1.147",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:03:01.545774Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TBC1D32 was added\ngene: TBC1D32 was added to Hydrocephalus. Sources: Expert list,Radboud University Medical Center, Nijmegen,Expert Review Amber\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566\nPhenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome, MONDO:0015375\nPenetrance for gene: TBC1D32 were set to Complete",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:23:45.444799Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.119",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, OMIM:304340 to Pettigrew syndrome, OMIM:304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:56:41.614293Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_phenotype tag was added to gene: MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:53:45.438828Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MYMK",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2021-10-14T14:53:09.442837Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_expert_review tag was added to gene: MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2021-10-14T12:26:14.027571Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: TCIRG1.",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-10-14T12:26:02.141466Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TCIRG1 were set to ",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-10-14T12:25:48.717936Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TCIRG1 as Amber List (moderate evidence)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-10-14T12:25:48.709918Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.117",
"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. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-10-14T12:25:48.676104Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-08-17T14:06:30.438215Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. Hydrocephalus is part of the phenotype. This gene should be rated Green at the next review.",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T14:06:08.931679Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Malformations of cortical development v2.59",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T14:06:08.903610Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: B4GAT1 was added\ngene: B4GAT1 was added to Hydrocephalus. Sources: Expert Review Amber,Literature\nQ3_21_rating tags were added to gene: B4GAT1.\nMode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GAT1 were set to 23359570; 23877401; 23217742\nPhenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287\nPenetrance for gene: B4GAT1 were set to Complete",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-07-27T10:21:58.970631Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.115",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I, OMIM:217090 to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2021-07-19T10:12:24.831778Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2021-06-22T13:21:24.545014Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: ERF.",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-06-22T12:28:48.401623Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7, MIM# 612301 to Osteopetrosis, autosomal recessive 7, OMIM:612301",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:38:59.977429Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.113",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, MIM# 259700 to Osteopetrosis, autosomal recessive 1, OMIM:259700",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:37:29.893890Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.112",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TBC1D7 as Red List (low evidence)",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:37:29.891449Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.112",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. Currently, there is no evidence to support this gene-disease association.",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:37:29.871410Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.112",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tbc1d7 has been classified as Red List (Low Evidence).",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2021-06-21T13:36:36.677430Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: TBC1D7.",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2021-06-21T12:55:48.575507Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2021-06-21T09:19:23.974934Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2021-06-21T09:18:32.254101Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: MPDZ.\nTag Q2_21_rating tag was added to gene: MPDZ.",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2021-06-21T08:56:53.721208Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MPDZ were set to 23240096; 28460636",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2021-06-21T08:53:39.425873Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: New publication added PMID:26174511",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-06-21T08:53:39.406723Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KIF7 were set to 21552264",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-06-17T14:36:01.534740Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.109",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: TRIM71.",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2021-06-17T14:35:44.036799Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.109",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TRIM71 as Amber List (moderate evidence)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2021-06-17T14:35:44.034048Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.109",
"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 Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2021-06-17T14:35:44.015994Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.109",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: trim71 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2021-06-17T14:33:53.207759Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.108",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID: 33077954. 3 additional cases with different variants.",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2021-06-17T14:33:53.190632Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.108",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2021-06-17T14:11:33.502569Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.107",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1, MIM#\t618667 to Hydrocephalus, congenital communicating, 1, OMIM:618667",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2021-06-16T14:56:13.083662Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.106",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Growth failure in early childhood v1.70",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2021-06-16T14:56:13.057761Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.106",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ZPR1 was added\ngene: ZPR1 was added to Hydrocephalus. Sources: Expert Review Red,Literature\nfounder-effect tags were added to gene: ZPR1.\nMode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZPR1 were set to 29851065\nPhenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2021-06-07T08:49:22.670237Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.105",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: SMARCC1: Penetrance for gene SMARCC1 was set from None to Incomplete",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-06-02T12:39:47.220867Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.105",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Penetrance for gene SMARCC1 was set from to None",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-06-02T12:31:50.088665Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.104",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-06-02T12:31:04.201926Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.103",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: SMARCC1.",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-06-02T12:30:29.759270Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.103",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SMARCC1 were set to 33077954; 24170322",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-06-02T12:30:08.784516Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SMARCC1 as Amber List (moderate evidence)",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-06-02T12:30:08.781652Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update. \r\n\r\nAt least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities.",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-06-02T12:30:08.758609Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: smarcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-05-25T15:19:59.978227Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.101",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ISLR2 were set to 30483960",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2021-05-25T15:19:43.567100Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.100",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ISLR2 as Red List (low evidence)",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2021-05-25T15:19:43.564235Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.100",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family reported in PMID:\t30483960 with congenital hydrocephalus, arthrogryposis and abdominal distension and a homozygous a frameshift deletion that segregated with disease. Knockout mouse model recapitulates some features of the human phenotype, i.e. hydrocephalus (PMID: 29739947). \r\n\r\nRating Red, awaiting further cases.",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2021-05-25T15:19:43.537546Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.100",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: islr2 has been classified as Red List (Low Evidence).",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:53:27.181188Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.99",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WNT3 were changed from Tetra-amelia syndrome to ?Tetra-amelia syndrome 1, OMIM:273395",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:52:58.292833Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D7 were changed from Macrocephaly/megalencephaly syndrome, autosomal recessive to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:52:35.812986Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SEC24D were changed from Cole-Carpenter syndrome 2 to Cole-Carpenter syndrome 2, OMIM:616294",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:52:25.391313Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.96",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SEC24D were set to 25683121",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:52:11.282014Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH2 were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:51:54.438979Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: P4HB were changed from Cole-Carpenter syndrome 1 to Cole-Carpenter syndrome 1, OMIM:112240",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:51:39.029089Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.93",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: P4HB were set to 25683117",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:51:13.645014Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.92",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked to Myotubular myopathy, X-linked, OMIM:310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:50:53.454024Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.91",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2, OMIM:615219 to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:50:34.754962Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.90",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2 615219 to Hydrocephalus, nonsyndromic, autosomal recessive 2, OMIM:615219",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:50:20.495938Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.89",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KIF7 were changed from ?Hydrolethalus syndrome 2 614120 to ?Hydrolethalus syndrome 2, OMIM:614120",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:48:22.487461Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.88",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC6 were changed from ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia to ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863",
"entity_name": "HDAC6",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:47:52.246844Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.87",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from Otopalatodigital syndrome, type II to Otopalatodigital syndrome, type II, OMIM:304120",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:45:12.498142Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.86",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: EBP were changed from MEND syndrome to MEND syndrome, OMIM:300960",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:44:23.911427Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CLIC2 were changed from ?Mental retardation, X-linked, syndromic 32 to ?Mental retardation, X-linked, syndromic 32, OMIM:300886",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:43:28.036600Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.84",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: B3GNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:39:59.999422Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.83",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from Hydranencephaly with abnormal genitalia to Hydranencephaly with abnormal genitalia, OMIM:300215",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:13:28.558136Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.82",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC3 were changed from VACTERL association, X-linked to VACTERL association, X-linked, OMIM:314390",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2021-03-29T07:58:58.968182Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.81",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5 to Holoprosencephaly 5, OMIM:609637",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-03-29T07:58:41.707205Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.80",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB20 were changed from Primrose syndrome to Primrose syndrome, OMIM:259050",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2021-03-29T07:58:14.598758Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.79",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 to Ritscher-Schinzel syndrome 1, OMIM:220210",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2021-03-29T07:57:45.343439Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.78",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Mental retardation, X-linked 99, OMIM:300919; Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:59:57.771997Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.77",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome 101400 to Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:59:30.529052Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.76",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:59:15.567854Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.75",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TCF12 were changed from Craniosynostosis 3 615314 to Craniosynostosis 3, OMIM:615314",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:58:57.300291Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.74",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency, OMIM:272200",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:58:31.190451Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.73",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:58:04.505508Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.72",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:57:41.401091Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.71",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 to Osteopetrosis, autosomal recessive 8, OMIM:615085",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:57:13.074312Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.70",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, OMIM:182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:55:40.767269Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.69",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, OMIM:303600",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:55:14.850117Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.68",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RNF125 were changed from Tenorio syndrome to Tenorio syndrome, OMIM:616260",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:54:40.148772Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.67",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Macrocephaly/autism syndrome to Macrocephaly/autism syndrome, OMIM:605309",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:54:12.193493Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.66",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:52:45.299244Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.65",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35 to Mental retardation, autosomal dominant 35, OMIM:616355",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:52:21.191692Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.64",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:52:07.396742Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.63",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:50:16.319078Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.62",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:49:56.979043Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.61",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:49:29.807088Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.60",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I to Plasminogen deficiency, type I, OMIM:217090",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:49:10.720203Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.59",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:48:39.818560Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.58",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:48:19.983745Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.57",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5 259720 to Osteopetrosis, autosomal recessive 5, OMIM:259720",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:48:07.705838Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.56",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NSD1 were changed from Sotos syndrome 1 117550 to Sotos syndrome 1, OMIM:117550",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:47:49.050566Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 to Neurofibromatosis, type 1, OMIM:162200",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:44:27.348851Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.54",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II, OMIM:248500",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:44:11.858784Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.53",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:40:39.897622Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB1 were changed from Lissencephaly 5 to Lissencephaly 5, OMIM:615191",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:39:46.040281Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCorpus callosum, partial agenesis of, OMIM:304100;CRASH syndrome, OMIM:303350;Hydrocephalus due to aqueductal stenosis, OMIM:307000;Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000;Hydrocephalus with Hirschsprung disease, OMIM:307000;MASA syndrome, OMIM:303350;X-linked Hydrocephalus with aqueductal stenosis;Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius;HSAS",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:39:46.019585Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from Corpus callosum, partial agenesis of; CRASH syndrome; Hydrocephalus due to aqueductal stenosis 307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction 307000; Hydrocephalus with Hirschsprung disease 307000; MASA syndrome; X-linked Hydrocephalus with aqueductal stenosis; Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius; HSAS to Corpus callosum, partial agenesis of, OMIM:304100; CRASH syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000; MASA syndrome, OMIM:303350",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:32:46.018643Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome\t617822 to Alkuraya-Kucinskas syndrome, OMIM:617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:32:13.046475Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly 616546 to Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:31:55.222545Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:30:16.365135Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II, OMIM:309900",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:25:57.478977Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HYLS1 were changed from Hydrolethalus syndrome 236680 to Hydrolethalus syndrome, OMIM:236680",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:25:43.162509Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: HYLS1 were set to ",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:25:27.680347Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII, OMIM:253220",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:25:06.445702Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.43",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome to Chudley-McCullough syndrome, OMIM:604213",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:24:40.219430Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome to Greig cephalopolysyndactyly syndrome, OMIM:175700",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:22:58.596411Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GFAP were changed from Alexander disease 203450 to Alexander disease, OMIM:203450",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:22:38.778252Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FLVCR2 were changed from Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790 to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:22:18.795178Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:21:32.652812Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:20:52.979845Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR3 were changed from Achondroplasia 100800; Thanatophoric dysplasia 187600; Crouzon syndrome with acanthosis nigricans 612247; Muenke syndrome 602849 to Achondroplasia, OMIM:100800; Thanatophoric dysplasia, OMIM:187600; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Muenke syndrome, OMIM:602849",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:16:49.116786Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from Apert syndrome; Crouzon syndrome to Apert syndrome, OMIM:101200; Crouzon syndrome, OMIM:123500",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:16:01.154492Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from Pfeiffer syndrome 101600 to Pfeiffer syndrome, OMIM:101600",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:15:41.243721Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nVACTERL Association with Hydrocephalus;Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752;VACTERLX;Fanconi anemia, complementation group B, OMIM:300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:15:41.215596Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B, OMIM:300514 to Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752; Fanconi anemia, complementation group B, OMIM:300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:14:34.069423Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B 300514 to VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B, OMIM:300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:09:55.352386Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FAM20C were changed from Raine syndrome to Raine syndrome, OMIM:259775",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:09:21.227081Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4, OMIM:600775",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:09:04.641295Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: EML1 were changed from Band heterotopia, 600348 to Band heterotopia, OMIM:600348",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:08:44.648417Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR24 were changed from Desmosterolosis to Desmosterolosis, OMIM:602398",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:08:24.127203Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DENND5A were changed from Epileptic encephalopathy, early infantile, 49 to Epileptic encephalopathy, early infantile, 49, OMIM:617281",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:07:47.426227Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:07:19.062622Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CRB2 were changed from Ventriculomegaly with cystic kidney disease 219730 to Ventriculomegaly with cystic kidney disease, OMIM:219730",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:07:07.134419Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from Porencephaly 1, OMIM:175780 to Brain small vessel disease with or without ocular anomalies, OMIM:175780",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:06:39.849356Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from Porencephaly 1 175780 to Porencephaly 1, OMIM:175780",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-03-25T16:06:21.082266Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CEP83 were changed from Nephronophthisis 18 615862 to Nephronophthisis 18, OMIM:615862",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:03:04.626077Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CENPF were changed from Stromme syndrome 243605 to Stromme syndrome, OMIM:243605",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:02:50.809525Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:02:37.403987Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:02:27.549773Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 612285 to Joubert syndrome 9, OMIM:612285",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:01:50.174723Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:01:34.638222Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome 261540 to Peters-plus syndrome, OMIM:261540",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:01:12.311710Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:00:30.964034Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis, Type VI to Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2021-03-25T14:59:47.854829Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic, OMIM:5 to Mental retardation, X-linked syndromic 5, OMIM:304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-03-25T14:59:14.417675Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 to Mental retardation, X-linked syndromic, OMIM:5",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-03-25T14:58:48.688118Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-03-20T12:32:15.297725Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: EEF2.",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-03-20T12:32:04.874865Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: EEF2 as Amber List (moderate evidence)",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-03-20T12:32:04.866418Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting to amber with recommendation of a green rating at the next GMS review. 3 cases reported with macrocephaly associated with ventriculomegaly. Recommended for addition to the panel by Genomics England clinician.",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-03-20T12:32:04.843668Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: eef2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-03-20T12:30:55.674135Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: EEF2 was added\ngene: EEF2 was added to Hydrocephalus. Sources: Literature\nMode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EEF2 were set to 33355653\nPhenotypes for gene: EEF2 were set to hydrocephaly\nReview for gene: EEF2 was set to GREEN\nAdded comment: PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly (benign hydrocephaly) \nSources: Literature",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:49:51.822819Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: KIDINS220.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:49:44.197845Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: KIDINS220 as Amber List (moderate evidence)",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:49:44.194836Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported. Added to panel at recommendation of Genomics England clinician.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:49:44.177398Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: kidins220 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:48:42.544268Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: KIDINS220 was added\ngene: KIDINS220 was added to Hydrocephalus. Sources: Literature\nMode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169\nPhenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures\nReview for gene: KIDINS220 was set to GREEN\nAdded comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.\r\n\r\n3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:\r\n\r\nPMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.\r\n\r\nPMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.\r\n\r\nPMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.\r\n\r\nPMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations. \nSources: Literature",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-01-29T16:39:27.475173Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome\t254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:57:52.863819Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia 612651 to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-11-02T09:54:47.073578Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCC1 was added\ngene: SMARCC1 was added to Hydrocephalus. Sources: Literature\nMode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC1 were set to 33077954; 24170322\nPhenotypes for gene: SMARCC1 were set to Congenital hydrocephalus\nReview for gene: SMARCC1 was set to GREEN\ngene: SMARCC1 was marked as current diagnostic\nAdded comment: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Supportive mouse model. \nSources: Literature",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2020-08-08T02:55:36.554078Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11A was added\ngene: TNFRSF11A was added to Hydrocephalus. Sources: Expert list\nMode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, MIM# 612301\nReview for gene: TNFRSF11A was set to GREEN\ngene: TNFRSF11A was marked as current diagnostic\nAdded comment: Hydrocephalus is a reported feature. \nSources: Expert list",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2020-08-08T02:52:11.895814Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 was added to Hydrocephalus. Sources: Expert list\nMode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, MIM# 259700\nReview for gene: TCIRG1 was set to GREEN\nAdded comment: Hydrocephalus is a reported part of the phenotype. \nSources: Expert list",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2020-08-08T02:46:31.183409Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2020-08-08T02:04:41.037436Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three further families reported.; to: Three further families reported, at least one (30462379) specifically had hydrocephalus.",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T01:58:55.919152Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T01:11:14.233629Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T01:05:18.028692Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYMK: Rating: RED; Mode of pathogenicity: None; Publications: 28681861; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-08-08T00:54:29.386151Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T00:46:23.192905Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 26174511; Phenotypes: Hydrolethalus syndrome 2, MIM# 614120, Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-08-08T00:41:41.756538Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISLR2 was added\ngene: ISLR2 was added to Hydrocephalus. Sources: Expert list\nMode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISLR2 were set to 30483960\nPhenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension\nReview for gene: ISLR2 was set to AMBER\nAdded comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus \nSources: Expert list",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-08-07T23:58:59.258980Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-08-07T11:13:15.888652Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 4, MIM# 600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2020-06-03T10:58:27.023542Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM71 was added\ngene: TRIM71 was added to Hydrocephalus. Sources: Literature\nMode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM71 were set to 29983323; 32168371; 30975633\nPhenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1, MIM#\t618667\nReview for gene: TRIM71 was set to GREEN\nAdded comment: 3 unrelated individuals with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child. Functional data. \nSources: Literature",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:05:50.984207Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.4",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-13T11:44:42.642666Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.1",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Hydrocephalus; R86 to Hydrocephalus; R86",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-18T15:58:15.350411Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-18T15:55:23.709314Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.39",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Hydrocephalus;R86 to Hydrocephalus; R86\nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-30T12:37:55.340138Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.38",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Hydrocephalus to Hydrocephalus;R86",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-25T10:03:12.622145Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.37",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: ICK",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2019-09-25T10:03:06.636047Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.37",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: ICK.",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2019-09-20T17:29:23.871322Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NMNAT2 were set to PMID: 31136762",
"entity_name": "NMNAT2",
"entity_type": "gene"
},
{
"created": "2019-09-20T17:29:15.669940Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: NMNAT2 as Red List (low evidence)",
"entity_name": "NMNAT2",
"entity_type": "gene"
},
{
"created": "2019-09-20T17:29:15.666887Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by external expert (Michael Coleman (University of Cambridge), 11 Sep 2019) on Cerebellar hypoplasia panel v 1.37 and reviewed by curation team: Although appropriate to include on the panel the gene has been rated Red until there is more information to support gene-disease association. The current information in the literature does not support a Green rating as suggested by external reviewer, there are not sufficient cases, only an animal model (PMID:31136762)",
"entity_name": "NMNAT2",
"entity_type": "gene"
},
{
"created": "2019-09-20T17:29:15.644143Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: nmnat2 has been classified as Red List (Low Evidence).",
"entity_name": "NMNAT2",
"entity_type": "gene"
},
{
"created": "2019-09-11T21:57:16.527209Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.35",
"user_name": "Michael Coleman",
"item_type": "entity",
"text": "gene: NMNAT2 was added\ngene: NMNAT2 was added to Hydrocephalus. Sources: Research\nMode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT2 were set to PMID: 31136762\nPhenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta\nPenetrance for gene: NMNAT2 were set to Complete\nReview for gene: NMNAT2 was set to GREEN\nAdded comment: Closely related phenotype in homozygous null mouse (PMID 23946398). \nSources: Research",
"entity_name": "NMNAT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.770402Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.755698Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.740775Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.725789Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.712107Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.697465Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.683078Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.668117Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.653459Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.633868Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.616046Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.599888Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ASXL2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.585624Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.569715Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.554248Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.536204Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.521430Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.503881Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.484601Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MPDZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.470164Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.456144Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.440897Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HDAC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HDAC6",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.426531Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.405123Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.387050Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CLIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.373250Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: B3GNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.359378Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.343139Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.327368Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.312966Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.298507Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.282481Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.266577Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: TMEM5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.254599Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.233424Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.211193Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.192423Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: STRADA: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.180395Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SNX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.164449Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.144838Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.127888Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RNF125: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.112612Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.097464Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.082352Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.066345Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.036979Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:45.019370Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.999687Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.984261Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.967890Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.947964Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.931938Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.910647Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.891786Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.876452Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.859205Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.844758Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.829184Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.813494Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.797454Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.780744Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ISPD: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.766476Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.750192Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.735587Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.720014Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.700062Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.686225Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.671487Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.656668Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.642251Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.627292Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.613377Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.598497Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.583767Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.568735Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.553620Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.537677Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.521689Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: EML1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.507314Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.489321Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.475022Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.461083Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.446913Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.432611Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.417916Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.403285Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.388394Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.373934Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.359120Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.344768Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.330450Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.226813Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.207549Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.190816Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.175974Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.157941Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: LARGE1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:49:44.141790Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:41:52.488678Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: EML1.",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:41:41.921448Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: EML1",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:43.481957Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR81.",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:43.390736Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TTR.",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:43.296146Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TMEM216.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:43.199830Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TBX15.",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:43.023515Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RNASEH2A.",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.929453Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to OFD1.",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.827442Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NRAS.",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.739695Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NOTCH2.",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.651355Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NANS.",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.565263Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MMACHC.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.476900Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GMPPB.",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.390776Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ASXL2.",
"entity_name": "ASXL2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.294333Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WNT3.",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.204613Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TBC1D7.",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.108754Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SEC24D.",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:42.007659Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PTCH2.",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.918763Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to P4HB.",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.824117Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MTM1.",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.733030Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MPDZ.",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.644096Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF7.",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.561092Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ICK.",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.479255Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HDAC6.",
"entity_name": "HDAC6",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.393371Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.305960Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to EBP.",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.212728Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CLIC2.",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.102402Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to B3GNT2.",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:41.010920Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARX.",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.912566Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZIC3.",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.815734Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZIC2.",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.717816Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZBTB20.",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.626374Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to USP9X.",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.508831Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TWIST1.",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.425753Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TMEM5.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.338883Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TCF12.",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.256322Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SUMF1.",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.173952Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SUFU.",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:40.092108Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STRADA.",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.993611Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SNX10.",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.905282Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SKI.",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.818961Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPS6KA3.",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.730048Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RNF125.",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.644485Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PTEN.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.555909Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PTCH1.",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.451686Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PPP2R5D.",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.360942Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to POMT2.",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.262734Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to POMT1.",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.169616Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to POMK.",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:39.078424Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to POMGNT2.",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.984098Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to POMGNT1.",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.905886Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PLG.",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.726500Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PIK3R2.",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.645381Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.548952Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to OSTM1.",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.456703Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NSD1.",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.362672Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NF1.",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.274944Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MAN2B1.",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.189337Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LAMB1.",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.103893Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to L1CAM.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:38.012925Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIAA1109.",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.932156Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIAA0586.",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.843290Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.753895Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to IDS.",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.670739Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HYLS1.",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.592698Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GUSB.",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.516867Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GPSM2.",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.440759Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GLI3.",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.359924Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GFAP.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.277727Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FMR1.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.192026Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FLVCR2.",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.108888Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FKTN.",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:37.025430Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FKRP.",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.940450Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FGFR3.",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.858508Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FGFR2.",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.773215Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FGFR1.",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.692591Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCB.",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.606005Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FAM20C.",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.521068Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERF.",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.432075Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to EML1.",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.342795Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DHCR24.",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.226865Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DENND5A.",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:36.111044Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DAG1.",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.991003Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CRB2.",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.854261Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to COL4A1.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.748628Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CEP83.",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.662408Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CENPF.",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.581927Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CCND2.",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.476208Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CCDC88C.",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.373415Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CC2D2A.",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.283523Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BUB1B.",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.189111Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to B3GALNT2.",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.092034Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARSB.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:35.011059Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP1S2.",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:34.921648Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AKT3.",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:34.843814Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:34.762954Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:34.658012Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LARGE1.",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2019-07-29T14:39:34.567691Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to B3GLCT.",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-07-19T13:36:24.738412Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.32",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "Classified gene: FMR1 as Red List (low evidence)",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2019-07-19T13:36:24.735430Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.32",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As per consensus agreement on structural neurological disorders webex on 11th July 2019",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2019-07-19T13:36:24.717566Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.32",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "Gene: fmr1 has been classified as Red List (Low Evidence).",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2019-07-19T13:35:35.045269Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.31",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "edited their review of gene: FMR1: Added comment: This gene was reviewed on the structural neurological disorders working group webex on 11th July. Although initially included on this panel in view of relative macrocephaly, this is not within the remit of the hydrocephalus panel for the GMS. In view of a lack of phenotypic relevance for SNVs and hydrocephalus, this gene was downgraded to red.; Changed rating: RED",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2019-07-09T12:31:13.996950Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: TTR were set to ",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-07-09T12:31:01.905651Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.30",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: TTR: Changed publications: 30878017, 31131842, 31118583, 31111153, 30120737; Changed phenotypes: Amyloidosis, hereditary, transthyretin-related 105210",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-07-09T12:30:14.188611Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.30",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on gene: TTR",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-07-09T12:30:06.302679Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.30",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TTR.",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2019-01-28T16:26:20.762693Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ISPD",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2019-01-28T16:26:12.690700Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2018-12-20T14:50:48.042044Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.28",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-12-17T16:02:10.812434Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.27",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Hydrocephalus; GMS R86 to Hydrocephalus",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:27:02.684193Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.24",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Hydrocephalus; GMS R86",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-12T13:49:33.129349Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.23",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to \nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-08-07T10:09:28.763563Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified USP9X as Green List (high evidence)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2018-08-07T10:08:54.071661Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2018-07-16T10:17:40.190011Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified STRADA as Green List (high evidence)",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2018-07-16T10:17:32.307085Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2018-03-21T13:14:42.918521Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on TMEM5",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2018-02-06T09:12:05.309333Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified KIAA1109 as Green List (high evidence)",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2018-02-06T09:11:54.996539Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2017-12-19T16:49:19.634787Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "ASXL2",
"entity_type": "gene"
},
{
"created": "2017-11-07T13:49:11.310612Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2017-11-07T13:49:01.561310Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified CC2D2A as Green List (high evidence)",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2017-10-24T15:20:53.152000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified EML1 as green",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2017-10-24T15:17:34.035000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on EML1",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2017-10-12T12:50:19.122000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified WDR81 as red",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2017-10-12T12:48:10.725000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "added WDR81 to panel",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2017-10-12T12:48:09.912000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed WDR81",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2017-09-05T07:46:17.773000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified TMEM8C as green",
"entity_name": "TMEM8C",
"entity_type": "gene"
},
{
"created": "2017-09-05T07:43:11.678000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added TMEM8C to panel",
"entity_name": "TMEM8C",
"entity_type": "gene"
},
{
"created": "2017-09-05T07:43:10.999000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed TMEM8C",
"entity_name": "TMEM8C",
"entity_type": "gene"
},
{
"created": "2017-07-26T14:18:32.366000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "commented on ZIC3",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2017-05-31T10:02:35.206000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "promoted panel to version 1",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-05-31T09:56:40.877000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on KIAA0196",
"entity_name": "KIAA0196",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:35:07.080000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked WASHC5* as ready",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:33:58.857000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked ZBTB20 as ready",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:33:20.155000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked ZIC2 as ready",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:29:42.495000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked SUFU as ready",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:28:32.476000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked SNX10 as ready",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:27:42.223000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked SKI as ready",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:26:43.188000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked RPS6KA3 as ready",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:25:49.401000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked RNF125 as ready",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:24:50.556000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:23:40.559000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked PTCH1 as ready",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:22:58.134000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked PPP2R5D as ready",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:22:09.103000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:21:26.888000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:20:00.891000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:19:16.215000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked PLG as ready",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:18:27.274000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked NF1 as ready",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:17:37.344000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked LAMB1 as ready",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:16:40.707000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2017-05-30T14:15:47.214000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked IDS as ready",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:57:52.274000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked GUSB as ready",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:56:58.973000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:55:15.945000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:54:28.051000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:53:44.534000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:53:00.668000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:51:58.999000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FGFR2 as ready",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:50:59.554000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FAM20C as ready",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:50:12.635000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked DHCR24 as ready",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:49:25.576000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked DENND5A as ready",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:48:28.038000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked DAG1 as ready",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:46:03.331000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked B3GLCT* as ready",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2017-05-30T13:44:45.733000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked AP1S2 as ready",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:25:15.898000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FGFR1 as ready",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:24:56.358000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified FGFR1 as green",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:24:32.816000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added FGFR1 to panel",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:24:32.159000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FGFR1",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:21:10.553000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked TCF12 as ready",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:21:03.429000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified TCF12 as green",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:20:45.222000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added TCF12 to panel",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:20:44.574000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed TCF12",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:17:19.847000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked ERF as ready",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:17:02.974000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified ERF as green",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:16:40.630000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added ERF to panel",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:16:40.007000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ERF",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:14:13.233000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked TWIST1 as ready",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:14:01.298000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified TWIST1 as green",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:13:39.772000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added TWIST1 to panel",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:13:39.166000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed TWIST1",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2017-05-30T08:00:23.954000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked ICK as ready",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:59:23.847000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified ICK as amber",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:57:44.987000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added ICK to panel",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:57:44.347000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ICK",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:54:51.189000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FLVCR2 as ready",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:54:45.106000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified FLVCR2 as green",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:54:21.887000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added FLVCR2 to panel",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:54:21.247000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FLVCR2",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:49:04.225000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked OSTM1 as ready",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:48:58.363000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified OSTM1 as green",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:48:24.039000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added OSTM1 to panel",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2017-05-30T07:48:23.413000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed OSTM1",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2017-05-29T09:38:15.225000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on FANCB",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:49:54.194000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked KIF7 as ready",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:49:48.540000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified KIF7 as amber",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:49:17.213000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added KIF7 to panel",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:49:16.641000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed KIF7",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:46:38.386000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:46:12.731000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified KIAA0586 as green",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:45:50.022000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added KIAA0586 to panel",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:45:49.443000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed KIAA0586",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:39:38.445000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked HYLS1 as ready",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:39:19.273000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified HYLS1 as green",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:29:42.679000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added HYLS1 to panel",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:29:42.040000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed HYLS1",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:27:13.719000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "edited their review of FGFR3",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:22:30.952000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked CRB2 as ready",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:22:24.177000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified CRB2 as green",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:22:04.076000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added CRB2 to panel",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:22:03.457000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed CRB2",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:03:19.861000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked NSD1 as ready",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:03:13.228000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified NSD1 as green",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:02:51.786000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added NSD1 to panel",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2017-05-25T14:02:51.219000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed NSD1",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2017-05-22T15:07:47.178000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked ZIC3 as ready",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2017-05-22T15:07:38.382000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified ZIC3 as green",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2017-05-22T15:05:47.079000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2017-05-22T15:03:32.906000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2017-05-22T15:02:20.443000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2017-05-22T15:00:47.265000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked SUMF1 as ready",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2017-05-22T14:59:57.945000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified SUMF1 as green",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2017-05-22T14:59:05.093000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2017-05-22T14:57:57.134000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified MAN2B1 as green",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2017-05-22T14:56:36.328000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2017-05-11T08:36:26.143000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FMR1 as ready",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2017-05-11T08:36:07.889000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified FMR1 as green",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2017-05-11T08:35:38.818000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added FMR1 to panel",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2017-05-11T08:35:38.288000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FMR1",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2017-05-09T16:10:50.182000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified POMGNT2 as green",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2017-05-09T16:08:56.754000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified DAG1 as green",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2017-05-09T16:08:07.943000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified GUSB as green",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2017-05-09T16:07:31.877000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified IDS as green",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2017-05-09T16:03:17.274000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified IDS as green",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2017-05-09T16:01:54.159000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified PIK3CA as green",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2017-05-09T16:01:15.222000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked TMEM5 as ready",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2017-05-09T16:01:09.275000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified TMEM5 as green",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:41:37.077000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added GMPPB to panel",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:41:36.523000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed GMPPB",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:38:13.842000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added POMGNT2 to panel",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:38:13.220000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed POMGNT2",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:36:43.714000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added DAG1 to panel",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:36:42.162000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed DAG1",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:34:49.967000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added TMEM5 to panel",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:34:49.404000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed TMEM5",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:15.599000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ZBTB20",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:15.050000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ZIC3",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:14.327000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ZIC2",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:13.836000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed WASHC5*",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:13.360000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed WNT3",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:12.880000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed TMEM216",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:12.397000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed TBX15",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:11.913000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed TBC1D7",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:11.417000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed SUMF1",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:10.946000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed SUFU",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:10.486000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed SNX10",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:10.018000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed SKI",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:09.570000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed SEC24D",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:09.118000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed RPS6KA3",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:08.672000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed RNF125",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:08.235000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed RNASEH2A",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:07.799000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PTEN",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:07.375000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PTCH2",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:06.455000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PTCH1",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:05.428000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PPP2R5D",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:04.250000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed POMK",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:03.157000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed POMGNT1",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:02.102000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PLG",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:23:00.982000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed P4HB",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:59.884000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed OFD1",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:59.024000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed NRAS",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:58.030000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed NOTCH2",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:56.988000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed NF1",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:56.190000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed NANS",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:55.052000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed MTM1",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:53.588000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed MMACHC",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:51.978000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed LAMB1",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:50.791000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ISPD",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:50.156000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed HDAC6",
"entity_name": "HDAC6",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:49.792000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed GPSM2",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:49.442000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed GLI3",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:49.073000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FLNA",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:48.725000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FKTN",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:48.260000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FKRP",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:47.920000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FGFR3",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:47.606000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FGFR2",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:47.290000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FAM20C",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:46.986000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed EML1",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:46.664000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed EBP",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:46.358000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed DHCR24",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:46.026000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed DENND5A",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:45.254000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed COL4A1",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:44.699000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed CLIC2",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:44.432000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed B3GLCT*",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:44.155000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ARX",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2017-05-09T13:22:43.875000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed AP1S2",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2017-05-05T08:36:38.232000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on AKT3",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:18:16.309000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:17:26.865000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified POMT2 as green",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:17:05.686000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed POMT2",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:12:36.814000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:10:48.714000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified POMT1 as green",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:10:25.120000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed POMT1",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:05:19.416000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:03:15.688000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified PIK3R2 as green",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2017-05-04T10:02:40.784000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PIK3R2",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:55:40.830000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PIK3CA",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:51:16.039000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked MPDZ as ready",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:49:46.853000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified MPDZ as amber",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:48:44.510000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed MPDZ",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:39:28.599000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked LARGE as ready",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:37:57.707000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified LARGE as green",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:37:32.224000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed LARGE",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:26:39.599000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed IDS",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:18:45.384000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed GUSB",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:06:46.298000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked CCND2 as ready",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:06:03.296000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified CCND2 as green",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:05:29.390000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed CCND2",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:00:20.278000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked CCDC88C as ready",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:59:37.805000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "edited their review of CCDC88C",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:57:06.716000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified CCDC88C as green",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:57:06.715000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "commented on CCDC88C",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:49:09.129000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked CENPF as ready",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:47:51.009000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified CENPF as green",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:46:06.993000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked B3GNT2 as ready",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:45:47.367000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified B3GNT2 as amber",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:44:24.111000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:44:01.759000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified CEP83 as green",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:43:14.470000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked BUB1B as ready",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:42:30.787000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified BUB1B as green",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:41:39.329000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked B3GALTL as ready",
"entity_name": "B3GALTL",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:41:05.896000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified B3GALTL as green",
"entity_name": "B3GALTL",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:39:55.246000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:38:54.753000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified B3GALNT2 as green",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:34:04.267000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified AKT3 as green",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:16:49.668000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:15:23.605000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified GFAP as green",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:14:50.915000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed GFAP",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:10:50.916000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified ARSB as green",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2017-05-04T08:10:09.207000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ARSB",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:57:28.797000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed AKT3",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:45:12.143000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed MAN2B1",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:34:00.251000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added CEP83 to panel",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:34:00.081000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed CEP83",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:27:16.363000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added CENPF to panel",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:27:16.207000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed CENPF",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:22:45.189000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added BUB1B to panel",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:22:45.048000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed BUB1B",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:18:14.159000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added B3GNT2 to panel",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:18:14.021000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed B3GNT2",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:12:41.780000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added B3GALTL to panel",
"entity_name": "B3GALTL",
"entity_type": "gene"
},
{
"created": "2017-04-27T13:12:41.644000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed B3GALTL",
"entity_name": "B3GALTL",
"entity_type": "gene"
},
{
"created": "2017-04-27T12:58:48.609000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "edited their review of B3GALNT2",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2017-04-27T11:43:39.227000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added B3GALNT2 to panel",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2017-04-27T11:43:39.085000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed B3GALNT2",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:53:01.035000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed GFAP",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:34:15.567000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:32:37.191000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified FANCB as green",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:31:52.497000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked ARSB as ready",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:29:22.252000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified ARSB as red",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:27:31.324000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:26:40.099000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified TTR as red",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:25:06.311000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:19:18.324000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed FANCB",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2017-03-29T13:10:51.861000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed ARSB",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2017-03-29T12:58:45.694000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed TTR",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2017-03-29T12:42:41.175000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed L1CAM",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2016-12-09T15:34:10.251000Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on LARGE",
"entity_name": "LARGE",
"entity_type": "gene"
}
]