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[
{
"created": "2024-05-01T12:42:31.719654Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version 2.12 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-18T19:43:24.063164Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: MAX as Amber List (moderate evidence)",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:43:24.056942Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by James Poulter, there is sufficient evidence available (three unrelated cases with the same p.Arg60Gln variant and functional studies) for the promotion of this gene to green rating in the next GMS update.",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:43:24.018633Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: max has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:41:35.182183Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.; to: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.\r\n\r\nThis gene has been associated with relevant phenotypes in OMIM (MIM #620712).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:40:22.789326Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MAX were changed from Macrocephaly; Polydactyly; delayed ophthalmic development; autism to Polydactyly-macrocephaly syndrome, OMIM:620712",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:40:02.700166Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: MAX.\nTag Q2_24_NHS_review tag was added to gene: MAX.",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:39:33.559897Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain.\r\n\r\nAffected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.; to: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:37:39.419327Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: MAX were set to PMID:38141607",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:37:13.648087Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: MAX: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain.\r\n\r\nAffected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-04-18T19:36:45.399569Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38141607; Phenotypes: Polydactyly-macrocephaly syndrome, OMIM:620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-03-07T21:48:09.896307Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.9",
"user_name": "James Poulter",
"item_type": "entity",
"text": "gene: MAX was added\ngene: MAX was added to Neurological segmental overgrowth. Sources: Literature\nMode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAX were set to PMID:38141607\nPhenotypes for gene: MAX were set to Macrocephaly; Polydactyly; delayed ophthalmic development; autism\nPenetrance for gene: MAX were set to Complete\nReview for gene: MAX was set to GREEN\nAdded comment: Recurrent de novo variant (p.Arg60Gln) identified in 3 unrelated individuals. Pathogenicity supported by functional analysis. \nSources: Literature",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2023-08-09T11:27:44.232545Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: AKT3.",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-03-22T15:41:15.567400Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.7",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 2.6 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-14T10:45:07.953749Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.5",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel signed off version 2.2 has been removed",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-14T10:43:48.654365Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 2.2 has been signed off on 2023-02-13",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-12-22T12:50:54.018628Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D7 were changed from MGCPH; Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:00:27.934233Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T13:59:00.314738Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "2.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-26T16:54:03.551684Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501 to Cowden syndrome 5, OMIM:615108; CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-03-26T16:50:44.249457Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Macrocephaly/autism syndrome, OMIM:605309",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-03-26T16:45:22.417242Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R2 were changed from MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1; Macrocephaly and Overgrowth Syndromes to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-03-26T16:43:55.671290Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP to CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-03-26T16:38:13.636067Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-03-26T16:36:51.867865Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-03-26T16:35:06.892044Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AKT1 were changed from Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome to Proteus syndrome, somatic, OMIM:176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:33:41.090251Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-01-06T15:26:25.795833Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: AKT1 were set to ",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-01-06T15:25:49.161714Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-03-04T11:45:02.213458Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.5",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-04T11:44:50.733929Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.4",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-27T11:13:58.288439Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-27T11:13:43.244059Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.2",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-11T15:55:48.293383Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-11T15:39:53.661309Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T10:28:11.679259Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.5",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T10:22:26.385440Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TBC1D7 was added\ngene: TBC1D7 was added to Neurological segmental overgrowth. Sources: Expert Review Red\nMode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D7 were set to MGCPH; Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.352020Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NRAS was added\ngene: NRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red\nMode of inheritance for gene: NRAS was set to \nPhenotypes for gene: NRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.314207Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MTOR was added\ngene: MTOR was added to Neurological segmental overgrowth. Sources: Expert Review Red\nMode of inheritance for gene: MTOR was set to \nPhenotypes for gene: MTOR were set to Segmental Overgrowth Syndrome; HME; Hemimegalencephaly",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.276447Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red\nMode of inheritance for gene: KRAS was set to \nPhenotypes for gene: KRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.240240Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red\nMode of inheritance for gene: HRAS was set to \nPhenotypes for gene: HRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.206990Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AKT2 was added\ngene: AKT2 was added to Neurological segmental overgrowth. Sources: Expert Review Red\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AKT2 were set to HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.174369Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Neurological segmental overgrowth. Sources: Expert Review Green\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.142089Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PIK3R2 was added\ngene: PIK3R2 was added to Neurological segmental overgrowth. Sources: Expert Review Green\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3R2 were set to MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1; Macrocephaly and Overgrowth Syndromes",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.108062Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Neurological segmental overgrowth. Sources: Expert Review Green\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.073937Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCND2 was added\ngene: CCND2 was added to Neurological segmental overgrowth. Sources: Expert Review Green\nMode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.042984Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Neurological segmental overgrowth. Sources: Expert Review Green\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:22:26.009374Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AKT1 was added\ngene: AKT1 was added to Neurological segmental overgrowth. Sources: Expert Review Green\nMode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AKT1 were set to Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:01:35.537232Z",
"panel_name": "Neurological segmental overgrowth",
"panel_id": 736,
"panel_version": "0.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Added Panel Neurological segmental overgrowth\nSet panel types to: GMS Rare Disease Virtual; Component Of Super Panel",
"entity_name": null,
"entity_type": null
}
]