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[
{
"created": "2024-04-03T10:27:32.097217Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: WNK3 were changed from Intellectual disability, MONDO:0001071 to Prieto syndrome, OMIM:309610; Intellectual disability, MONDO:0001071",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2024-04-03T10:27:15.528565Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked was removed from gene: WNK3.",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2024-03-25T20:41:52.370651Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: COL3A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL3A1 were set to 19455184; 25205403; 28742248; 28258187\nPhenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type EDS, OMIM:618343; polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MONDO:0032688\nReview for gene: COL3A1 was set to GREEN\nAdded comment: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance. \r\n\r\nSeveral cases reported:\r\n\r\nPMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS. The phenotype also included diffuse cortical dysplasia. A homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified. Both parents were heterozygous for this variant. \r\n\r\nPMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants. One sibling died suddenly due to extensive aortic dissection at age 15. The younger sibling was cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria \nSources: Literature",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-03-25T20:41:52.132557Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: COL3A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL3A1 were set to 19455184; 25205403; 28742248; 28258187\nPhenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type EDS, OMIM:618343; polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MONDO:0032688\nReview for gene: COL3A1 was set to GREEN\nAdded comment: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance. \r\n\r\nSeveral cases reported:\r\n\r\nPMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS. The phenotype also included diffuse cortical dysplasia. A homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified. Both parents were heterozygous for this variant. \r\n\r\nPMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants. One sibling died suddenly due to extensive aortic dissection at age 15. The younger sibling was cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria \nSources: Literature",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:08:58.080069Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.24",
"user_name": "Arina Puzriakova",
"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": "2024-01-31T17:46:40.581352Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ASPM were set to 12355089",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:43:06.980409Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ASPM were changed from Microcephaly 5, primary, autosomal recessive 608716 to Microcephaly 5, primary, autosomal recessive, OMIM:608716",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:39:27.220967Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: WDR62 were set to ",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:37:49.119275Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 604317 to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:25:51.363330Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM and Gene2Phenotype (Porencephaly 1 with 'definitive' rating in the DD panel).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:25:51.344336Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; Brain small vessel disease with or without ocular anomalies, OMIM:175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; Brain small vessel disease with or without ocular anomalies, OMIM:175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:23:37.124196Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:22:51.942422Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: COL4A2 as Amber List (moderate evidence)",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:22:51.937969Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence for the promotion of this gene to green rating in the next GMS review.",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:22:51.911428Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:22:02.492868Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: There are at least three unrelated cases of porencephaly reported with monoallelic variants in COL4A2.\r\n\r\nThis gene has also been associated with relevant phenotypes in both OMIM and Gene2Phenotype (with 'moderate' rating in the DD panel).; to: There are at least three unrelated cases of porencephaly reported with monoallelic variants in COL4A2.\r\n\r\nThis gene has also been associated with relevant phenotypes in both OMIM and Gene2Phenotype (Porencephaly 2 with 'moderate' rating in the DD panel).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:21:22.632817Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia to Brain small vessel disease 2, OMIM:614483; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:21:09.255200Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:20:56.081074Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: COL4A2.\nTag Q4_23_NHS_review tag was added to gene: COL4A2.",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-13T23:20:35.453941Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2, OMIM:614483, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-13T22:57:27.689496Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: COL4A1.\nTag Q4_23_NHS_review tag was added to gene: COL4A1.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T22:57:00.652013Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: COL4A1 as Amber List (moderate evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T22:57:00.647363Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T22:57:00.613018Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T22:54:50.318653Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T22:54:40.864470Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; Brain small vessel disease with or without ocular anomalies, OMIM:175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-13T22:50:09.211287Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773, Brain small vessel disease with or without ocular anomalies, OMIM:175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-01T16:33:10.687807Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.12",
"user_name": "nour Elkhateeb",
"item_type": "entity",
"text": "edited their review of gene: COL4A2: Changed rating: GREEN",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-11-28T13:57:25.866838Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CASP2 as Amber List (moderate evidence)",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-28T13:57:25.863149Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available (three unrelated families) for the association of biallelic CASP2 variants with lissencephaly. Hence, this gene can be promoted to green rating in the next GMS update.",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-28T13:57:25.831718Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-28T13:55:02.387945Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to neurodevelopmental disorder, MONDO:0700092; hereditary cerebral malformation, MONDO:0957008",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-28T13:54:46.124960Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: CASP2.",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-28T13:54:33.395629Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37880421; Phenotypes: neurodevelopmental disorder, MONDO:0700092, hereditary cerebral malformation, MONDO:0957008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T06:23:38.488554Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASP2 was added\ngene: CASP2 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP2 were set to 37880421\nPhenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related\nReview for gene: CASP2 was set to GREEN\nAdded comment: 7 individuals from 5 families:\r\n- 4 families homozygous for PTC.\r\n- 1 family compound heterozygote for splice site + PTC. RNA studies indicate usage of 2 cryptic splice donor sites.\r\n\r\n5/5 have ID/dev delay\r\n1/5 seizures\r\n2/5 hypotonia\r\n3/5 Lissencephaly (pachygyria + cortical thickening) \nSources: Literature",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-10-17T09:58:53.391759Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: HECTD4.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-17T09:58:41.006127Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:56:27.435033Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "nour Elkhateeb",
"item_type": "entity",
"text": "gene: COL4A2 was added\ngene: COL4A2 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A2 were set to 30413629; 36324412; 22333902\nPhenotypes for gene: COL4A2 were set to Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia\nAdded comment: COL4A2 variants are commonly associated with cortical malformations (Schizencephaly, porencephaly, polymicrogyria, focal cortical dysplasia, and nodular heterotopia) in literature. \r\nCOL4A2 variants are associated with porencephaly. however, it is not included in the R87 Cerebral malformation panel (indications as per the national genomic test directory include \"\r\nCerebral malformation such as cortical malformation or porencephaly with features suggestive of a monogenic cause\" \nSources: Literature",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:51:55.337311Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "nour Elkhateeb",
"item_type": "entity",
"text": "gene: COL4A1 was added\ngene: COL4A1 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A1 were set to 30837194; 37157232; 30413629; 36324412\nPhenotypes for gene: COL4A1 were set to Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia\nReview for gene: COL4A1 was set to GREEN\nAdded comment: COL4A1 variants are commonly associated with cortical malformations (Schizencephaly, porencephaly, polymicrogyria, focal cortical dysplasia, and nodular heterotopia) in literature. further information available on Genreviews Plaisier E, Ronco P. COL4A1-Related Disorders. 2009 Jun 25 [Updated 2016 Jul 7]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK7046/\r\nCOL4A1 variants are associated with porencephaly. however, it is not included in the R87 Cerebral malformation panel (indications as per the national genomic test directory include \"\r\nCerebral malformation such as cortical malformation or porencephaly with features suggestive of a monogenic cause\" \nSources: Literature",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:13:27.317008Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:13:15.871437Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:10:46.134237Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_22_promote_green was removed from gene: SLC35A2.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:07:48.671601Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: RAC3.",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:05:20.769291Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_MOI was removed from gene: DEPDC5.",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:04:36.227992Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:04:36.200571Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: RAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:04:36.184346Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: DEPDC5: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:58:27.853016Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC35A2.\nSource NHS GMS was added to SLC35A2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:58:27.732844Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to RAC3.\nSource NHS GMS was added to RAC3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:58:27.597370Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:56.813177Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: HECTD4.",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:48.819721Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:32.015251Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: HECTD4 as Amber List (moderate evidence)",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:32.007001Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: hectd4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:12.481974Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability - microarray and sequencing v5.292",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:18:12.401266Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: HECTD4 was added\ngene: HECTD4 was added to Malformations of cortical development. Sources: Literature,NHS GMS,Expert Review Green\nMode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HECTD4 were set to 36401616\nPhenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-08-09T11:25:49.550101Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from Polymicrogyria, macrocephaly to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-05-10T14:16:59.245888Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: There are now at least 14 patients from 13 unrelated families with de novo heterozygous variants in this gene (PMIDs: 29276006; 30293988; 35851598; 35595279). Brain imaging has shown variable structural abnormalities in all patients, including cerebral dysgenesis with polymicrogyria and heterotopia in the majority.; to: Comment on list classification: There are now at least 14 patients from 13 unrelated families with de novo heterozygous variants in this gene (PMIDs: 29276006; 30293988; 35851598; 35595279). Brain imaging has shown variable structural abnormalities in all patients, including cerebral dysgenesis with polymicrogyria and heterotopia in the majority. Therefore, this gene can be promoted to Green at the next GMS panel update. ",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-05-10T14:15:02.490147Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RAC3 as Amber List (moderate evidence)",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-05-10T14:15:02.486737Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are now at least 14 patients from 13 unrelated families with de novo heterozygous variants in this gene (PMIDs: 29276006; 30293988; 35851598; 35595279). Brain imaging has shown variable structural abnormalities in all patients, including cerebral dysgenesis with polymicrogyria and heterotopia in the majority.",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-05-10T14:15:02.450496Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-05-10T11:57:58.617299Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: RAC3.",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-05-10T11:57:08.759102Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability - microarray and sequencing v5.114",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-05-10T11:57:08.572653Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "4.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: RAC3 was added\ngene: RAC3 was added to Malformations of cortical development. Sources: Literature,Expert Review Green\nMode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAC3 were set to 29276006; 30293988; 35851598; 35595279\nPhenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577\nPenetrance for gene: RAC3 were set to unknown\nMode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2023-03-22T16:24:10.692649Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"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": "2023-03-22T16:23:34.072520Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"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": "2023-03-08T16:32:20.446451Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: DEPDC5: The MOI of this gene should be reviewed at the next NHS GMS review on whether it can be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-03-08T16:28:18.501241Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_MOI tag was added to gene: DEPDC5.",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-03-08T16:27:41.688413Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: DEPDC5 were set to 24585383; 25623524; 31444548; 32848577; 33949696; 34055363",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-03-08T16:26:42.092294Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The association of monoallelic variants in DEPDC5 gene to familial focal epilepsy (MIM #604364) have already been established with previous reviews and the existence of this phenotype in both OMIM and Gene2Phenotype.\r\n\r\nPMID:32848577 reported a child with a homozygous missense variant (p.Pro1031His) who presented with cortical dysplasia and childhood onset epilepsy.\r\n\r\nPMID:36067010 reported homozygous missense variants in five unrelated families (three Irish Traveller families with same variant - p.Thr337Arg; and one Tunisian and one Lebanese families with the same variant - p.Arg806Cys). All nine children from these five families presented with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe psychomotor developmental delay. Polymicrogyria is one of the most common malformations of cortical development, characterized by abnormal cortical lamination and excessive folding of the cortical surface\r\n\r\nSkin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. The disease mechanism is suggested as 'loss of function' as DEPDC5 is a repressor/inhibitor within the mTOR pathway.\r\n\r\nThe phenotypes caused by biallelic variants are not yet reported in OMIM or in Gene2Phenotype.; to: The association of monoallelic variants in DEPDC5 gene to familial focal epilepsy (MIM #604364) have already been established with previous reviews and the existence of this phenotype in both OMIM and Gene2Phenotype.\r\n\r\nPMID:32848577 reported a child with a homozygous missense variant (p.Pro1031His) who presented with cortical dysplasia and childhood onset epilepsy.\r\n\r\nPMID:36067010 reported homozygous missense variants in five unrelated families (three Irish Traveller families with same variant - p.Thr337Arg; and one Tunisian and one Lebanese families with the same variant - p.Arg806Cys). All nine children from these five families presented with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe psychomotor developmental delay. Polymicrogyria is one of the most common malformations of cortical development, characterized by abnormal cortical lamination and excessive folding of the cortical surface. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. The disease mechanism is suggested as 'loss of function' as DEPDC5 is a repressor/inhibitor within the mTOR pathway.\r\n\r\nThe phenotypes caused by biallelic variants are not yet reported in OMIM or in Gene2Phenotype.",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-03-08T16:26:20.093596Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32848577, 36067010; Phenotypes: Epilepsy, familial focal, with variable foci 1, OMIM:604364, epilepsy, MONDO:0005027, Macrocephaly, HP:0000256, polymicrogyria, MONDO:0000087, cerebral cortical dysplasia, MONDO:0017094, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-02-07T15:55:43.219368Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: WNK3.",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:59:27.441357Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: DAG1.\nTag Q3_22_expert_review was removed from gene: DAG1.",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:58:30.995165Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green. Additional commends from reviewing GLHs: \"Clearly disease-causing. Cobblestone lissencephaly is a feature of MDDGC disorders and probably overlaps this panel. Reasonable to retain I think.\"",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:57:50.188224Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: TP73.",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:57:38.729443Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: TBC1D32.",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:57:29.753003Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: SOX11.\nTag Q2_22_NHS_review was removed from gene: SOX11.",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:57:19.137569Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: SCN3A.",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:57:06.546250Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: RAB3GAP2.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:56:50.874994Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: RAB3GAP1.",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:56:45.681218Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: RAB18.",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:56:38.839694Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: PTEN.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:56:33.239424Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: PIDD1.",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:56:27.969950Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: PI4KA.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:56:18.762808Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_MOI was removed from gene: PEX6.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:53:23.084476Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: NPRL3.",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:53:17.173352Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: NPRL2.",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:53:09.356163Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: MAPK8IP3.",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:53:03.133422Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: GRIN2B.",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:52:39.824249Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: GRIN1.",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:52:32.998819Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: EML1.",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:52:25.801956Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: DPYSL5.",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:52:17.975193Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: DEPDC5.",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:52:12.171608Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: DCHS1.",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:52:06.525369Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: CTNNA2.",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:52:00.842081Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: B4GAT1.",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:53.883809Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: ATP1A3.",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:48.170858Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: ARF1.",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:34.194381Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: PEX7.\nTag Q3_21_expert_review was removed from gene: PEX7.",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:27.316820Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: EMX2.\nTag Q2_22_expert_review was removed from gene: EMX2.",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:18.814224Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: NSRP1.",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.986711Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: DAG1",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.973901Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TP73: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.964554Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.953447Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.941967Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.931325Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.920709Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.909948Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.899389Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.887711Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PIDD1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.879322Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.867780Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PEX6",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.856388Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.845188Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.832640Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: MAPK8IP3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.823906Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.812832Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.800872Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: EML1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.792089Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.780142Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: DEPDC5: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.770627Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: DCHS1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.761063Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: CTNNA2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.751380Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.728102Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.709147Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: ARF1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.697957Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: PEX7: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.689389Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:19.677127Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: NSRP1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.813689Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to TP73.\nSource NHS GMS was added to TP73.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.731614Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to TBC1D32.\nSource NHS GMS was added to TBC1D32.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.653102Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to SOX11.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.574370Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to SCN3A.\nSource NHS GMS was added to SCN3A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.496401Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to RAB3GAP2.\nSource NHS GMS was added to RAB3GAP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.419615Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to RAB3GAP1.\nSource NHS GMS was added to RAB3GAP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.337097Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to RAB18.\nSource NHS GMS was added to RAB18.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.259174Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to PTEN.\nSource NHS GMS was added to PTEN.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.175799Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to PIDD1.\nSource NHS GMS was added to PIDD1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:03.027456Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to PI4KA.\nSource NHS GMS was added to PI4KA.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:02.870050Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to PEX7.\nSource Expert Review Red was added to PEX7.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:02.711420Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to PEX6.\nMode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:02.556465Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NSRP1.\nSource NHS GMS was added to NSRP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:02.308936Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NPRL3.\nSource NHS GMS was added to NPRL3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:02.207437Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NPRL2.\nSource NHS GMS was added to NPRL2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:02.036161Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to MAPK8IP3.\nSource NHS GMS was added to MAPK8IP3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.899549Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to GRIN2B.\nSource NHS GMS was added to GRIN2B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.803908Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to GRIN1.\nSource NHS GMS was added to GRIN1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.705953Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to EMX2.\nSource Expert Review Amber was added to EMX2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.619971Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to EML1.\nSource NHS GMS was added to EML1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.534465Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to DPYSL5.\nSource NHS GMS was added to DPYSL5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.447287Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to DEPDC5.\nSource NHS GMS was added to DEPDC5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.368950Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to DCHS1.\nSource NHS GMS was added to DCHS1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.285319Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to CTNNA2.\nSource NHS GMS was added to CTNNA2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.206682Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to B4GAT1.\nSource NHS GMS was added to B4GAT1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:01.126949Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to ATP1A3.\nSource NHS GMS was added to ATP1A3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:35:00.987361Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARF1.\nSource NHS GMS was added to ARF1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2022-12-22T14:41:59.686824Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2B were changed from Polymicrogyria, symmetric or asymmetric 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2022-12-22T12:42:26.195005Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_22_expert_review was removed from gene: SLC35A2.\nTag mosaicism tag was added to gene: SLC35A2.\nTag somatic tag was added to gene: SLC35A2.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-22T12:41:58.944198Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A2 were changed from Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Congenital disorder of glycosylation, type IIm, OMIM:300896",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-22T12:41:34.937576Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SLC35A2 were set to 33407896",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-22T12:41:16.896760Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SLC35A2 as Amber List (moderate evidence)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-22T12:41:16.888598Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to support this gene-disease association and regardless of ability to detect somatic variants via this panel, there are enough cases with germline variants to warrant inclusion with a Green classification. Somatic cases should be picked up via other routes such as R429 'Mosaic brain disorders - deep sequencing' which is catered to somatic variant detection.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-22T12:41:16.821670Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-22T12:30:15.586691Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_22_promote_green tag was added to gene: SLC35A2.\nTag Q4_22_expert_review tag was added to gene: SLC35A2.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:40:00.868053Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PAFAH1B1 were changed from Lissencephaly 1\t607432; Subcortical laminar heterotopia\t607432 to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2022-12-21T14:40:16.905020Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DCX were changed from Lissencephaly, X-linked\t300067; Subcortical laminal heteropia, X-linked\t300067; Classic Lissencephaly/Subcortical Band Heterotopia to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2022-12-19T16:29:13.221484Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CASK were set to 21954287; 20595373; 32700313; 33090494; 33272775",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-12-13T20:58:25.668265Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: PAFAH1B1 were set to ",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2022-12-13T20:58:01.061256Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: PAFAH1B1: Rating: ; Mode of pathogenicity: None; Publications: 34635911; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2022-11-30T13:37:36.196407Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T13:36:25.120104Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "3.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-05T16:47:52.190318Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.149",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: DAG1",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T16:46:59.115463Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.149",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_expert_review was removed from gene: DAG1.\nTag Q3_22_rating tag was added to gene: DAG1.\nTag Q3_22_expert_review tag was added to gene: DAG1.",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-09-22T15:59:08.037307Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.149",
"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": "2022-08-01T11:28:26.838602Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.148",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1641",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-08-01T11:28:26.782711Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.148",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Malformations of cortical development. Sources: Expert Review Amber,Literature\nQ3_22_rating tags were added to gene: NSRP1.\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-07-27T09:31:16.566154Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.147",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TUBG1 were set to 23603762; 27010057",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-07-06T11:11:27.700102Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.146",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: WNK3 as Amber List (moderate evidence)",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-06T11:11:27.696427Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.146",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Brain phenotypes in cases reported to date are varied and non-specific. Therefore, rating Amber with a watchlist tag to allow monitoring for future cases which may indicate whether brain malformations are a prominent features of this disorder.",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-06T11:11:27.677227Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.146",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: wnk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-06T11:06:54.646749Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.145",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: WNK3 was added\ngene: WNK3 was added to Malformations of cortical development. Sources: Literature\nwatchlist tags were added to gene: WNK3.\nMode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: WNK3 were set to 35678782\nPhenotypes for gene: WNK3 were set to Intellectual disability, MONDO:0001071\nAdded comment: Kury et al. 2022 (PMID: 35678782) reported 14 males from 6 unrelated families with hemizygous variants (3 LOF and 3 missense, predicted pathogenic) in the WNK3 gene. All (14/14) had DD/ID and variable other associations including seizures (5/13), mild microcephaly (6/13, ranging -2 to -2.4 SD) and structural brain malformations (7/10). Heterozygous mothers were all asymptomatic.\r\n\r\nBrain imaging in 4 families that had anomalies showed F1) polymicrogyria in two sibs, F2) mild cerebral atrophy and bilateral periventricular white matter hypersignal, F3) three patients with subcortical cerebral atrophy, dilation of lateral ventricles, and F4) symmetric T2 prolongation involving the deep gray structures, central tegmental tracts and dentate nuclei. \nSources: Literature",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-05-23T14:55:51.053721Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.144",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: EMX2 were set to 8528262; 9359037; 18409201",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-05-23T14:55:04.989326Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.143",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 18409201, 17506092; Mode of inheritance: None",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-05-23T14:49:37.093429Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.143",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: EMX2.\nTag Q2_22_expert_review tag was added to gene: EMX2.",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:39:27.023734Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.143",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: SOX11: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. SOX11 variants have been reported by the NHS, including one from Tracy Lester and de novo variants in around 20 children with overlapping clinical features by Alisdair mcneill (Sheffield childrens hospital)(7 Oct 2019).; Changed rating: GREEN",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:31:37.120288Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.143",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Described as MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 by Gen2Phen (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=405).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:31:37.101335Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.143",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SOX11 were changed from intellectual disability; facial dysmorphism; microcephaly; digit anomalies; central nervous system malformations to Coffin-Siris syndrome 9, OMIM:615866",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:28:54.809431Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.142",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SOX11 as Amber List (moderate evidence)",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:28:54.805407Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.142",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:28:54.770228Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.142",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-05-19T16:28:37.826358Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.141",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: SOX11.\nTag Q2_22_NHS_review tag was added to gene: SOX11.",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:59:14.914272Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.141",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TUBGCP2.",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-05-08T17:59:53.728499Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.141",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TBC1D32.",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2022-05-07T17:15:10.863697Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.141",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: CEP85L.",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2022-04-21T15:47:29.256916Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.141",
"user_name": "Tracy Lester",
"item_type": "entity",
"text": "gene: SOX11 was added\ngene: SOX11 was added to Malformations of cortical development. Sources: NHS GMS\nMode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX11 were set to 24886874; 26543203; 23556151\nPhenotypes for gene: SOX11 were set to intellectual disability; facial dysmorphism; microcephaly; digit anomalies; central nervous system malformations\nPenetrance for gene: SOX11 were set to unknown\nReview for gene: SOX11 was set to GREEN\nAdded comment: Coffin-Siris syndrome is associated with brain malformations and variable ID. A pathogenic variant in this gene was identified in a case with brain malformations who had R87 panel applied but not R29 or R27. The gene is already green on these other panels. \nSources: NHS GMS",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:18:16.899604Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.141",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Penetrance for gene PEX6 was set from to None",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:17:57.629974Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.140",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:17:27.428377Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.140",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_22_MOI tag was added to gene: PEX6.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:16:59.102649Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.140",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:16:59.073399Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.140",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:16:41.477696Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.139",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4A (Zellweger), 614862; Peroxisome biogenesis disorder 4B, 614863 to Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:16:24.834988Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.138",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to 27604308",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-16T13:36:40.328444Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.137",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on Region: ISCA-37430-Loss",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:22:35.357908Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.137",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Required Overlap Percentage for ISCA-37430-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2022-03-08T15:25:43.957617Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.136",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: CRADD.",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:25:33.804228Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.136",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CRADD",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:25:17.821520Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.135",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CRADD.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:19:57.913843Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.134",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9, MIM# 618918 to Periventricular nodular heterotopia 9, OMIM:618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:19:42.368649Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MAP1B.",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:19:20.741054Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: H3F3A.",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:19:00.160386Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CDH2.",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:18:41.595969Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: LAMA2.",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:18:12.450774Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CASK.",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:17:39.101537Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: VLDLR.",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:17:21.743359Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ATP1A2.",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:16:59.582981Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CEP85L.",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:15:43.780695Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TMX2.",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:15:32.703178Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.133",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP2 were changed from Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:15:14.868724Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.132",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TUBGCP2.",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:15:04.447994Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.132",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R12A were changed from Genitourinary and/or/brain malformation syndrome, 618820 to Genitourinary and/or/brain malformation syndrome, OMIM:618820",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:14:49.193714Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PPP1R12A.",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:14:31.320727Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MN1.",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:14:10.136138Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SNAP29.",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:47.739682Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: APC2.",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.422992Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: MAP1B",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.409705Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: H3F3A",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.400501Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CDH2",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.390336Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: LAMA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.382447Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CASK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.374589Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: VLDLR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.367120Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ATP1A2",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.357895Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CEP85L",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.347430Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.340105Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TUBGCP2",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.330737Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PPP1R12A",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.321727Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: MN1",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.312743Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SNAP29",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:25.302221Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.131",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: APC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:06.438568Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to MAP1B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:06.361719Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to H3F3A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:06.281374Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CDH2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:06.207965Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to LAMA2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:06.134431Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CASK.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:06.052482Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to VLDLR.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:05.973851Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to ATP1A2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:05.896344Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CEP85L.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:05.815602Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TMX2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:05.741287Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TUBGCP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:05.666421Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to PPP1R12A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:05.591115Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to MN1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:05.516641Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to SNAP29.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:13:05.436146Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.130",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to APC2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:46:02.750708Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.129",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, OMIM:614225 to Warburg micro syndrome 2, OMIM:614225; Warburg micro syndrome 2 MONDO:0013641",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:42:32.350239Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.128",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to 23420520; 20967465",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:37:13.315015Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: RAB3GAP2.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:36:52.729742Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: RAB3GAP2: Added comment: Associated with relevant phenotype in OMIM, but not associated with Warburg micro syndrome 2 OMIM:614225 in Gen2Phen. At least four variants reported in at least four unrelated cases..; Changed rating: GREEN",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:32:17.876438Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Amber List (moderate evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:32:17.872845Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:32:17.842928Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.127",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:18:08.496648Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.126",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP1 were set to 23420520; 32740904",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:15:07.464830Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.125",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: RAB3GAP1: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least 13 variants reported in at least 12 unrelated cases; Changed rating: GREEN",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:11:22.285091Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.125",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, OMIM:600118 to Warburg micro syndrome 1 OMIM:600118; Warburg micro syndrome 1 MONDO:0010822",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:08:21.918466Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.124",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: RAB3GAP1.",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:08:05.526760Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.124",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RAB3GAP1 as Amber List (moderate evidence)",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:08:05.523482Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.124",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:08:05.495716Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.124",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:02:23.940972Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.123",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: DAG1 as Green List (high evidence)",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:02:23.937677Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.123",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:02:23.919742Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.123",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: dag1 has been classified as Green List (High Evidence).",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:01:52.876671Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.122",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: DAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:51:29.400160Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.122",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_21_expert_review tag was added to gene: DAG1.",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:50:47.127763Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.122",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: DAG1 were set to 24052401; 25934851",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:41:26.345704Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.121",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: DAG1 were set to 24052401",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:30:25.948312Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.120",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: PTEN: Added comment: In the retrospective study PMID: 32162846, the authors observe four unrelated cases who exhibit polymicrogyria.; Changed rating: GREEN",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:28:36.544173Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.120",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: PTEN.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:28:22.393692Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.120",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: PTEN as Amber List (moderate evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:28:22.391072Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.120",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:28:22.369205Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.120",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: pten has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-12-14T16:20:56.895883Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.119",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309 to Cowden syndrome 1 OMIM:158350; Lhermitte-Duclos syndrome OMIM:158350; Cowden syndrome 1 MONDO:0008021; Macrocephaly/autism syndrome OMIM:605309; macrocephaly-autism syndrome MONDO:0011537",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:50:22.776354Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: More cases PMID: 32740904",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:50:22.752656Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP1 were set to 23420520",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:37:13.217406Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, OMIM:600118",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:35:39.967141Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: RAB18.",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:35:33.898368Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: RAB18 as Amber List (moderate evidence)",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:35:33.894967Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.116",
"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 and Gene2Phenotype (Definitive). There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:35:33.866335Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: rab18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2021-12-13T10:38:12.346845Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RAB18 were changed from Warburg micro syndrome 3, MIM# 614222 to Warburg micro syndrome 3, OMIM:614222",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2021-12-13T10:20:43.305012Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: NPRL3.",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2021-12-13T10:20:35.483312Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NPRL3 as Amber List (moderate evidence)",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2021-12-13T10:20:35.480860Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be given a Green rating at the next review.",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2021-12-13T10:20:35.459355Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nprl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2021-12-13T08:56:43.067955Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.113",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NPRL3 were changed from Epilepsy, familial focal, with variable foci 3 (MIM#617118) to Epilepsy, familial focal, with variable foci 3, OMIM:617118",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:35.637150Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.112",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Penetrance for gene NPRL2 was set from to None",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:10.966514Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NPRL2 as Amber List (moderate evidence)",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:10.963436Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.111",
"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. It should be noted that not all patients with variants in this gene has focal cortical dysplasia; however, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:10.944994Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nprl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:33:18.406498Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: NPRL2.",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:31:42.399530Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID: 30093711 describes another 2 cases with FCD.",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:31:42.376038Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:04:46.979791Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.109",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NPRL2 were changed from Epilepsy, familial focal, with variable foci 2, MIM#\t617116 to Epilepsy, familial focal, with variable foci 2, OMIM:617116",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:59:12.533572Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.108",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GRIN2B as Amber List (moderate evidence)",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:59:12.530366Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.108",
"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 and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:59:12.502084Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.108",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:58:24.779273Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.107",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: GRIN2B.",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:58:03.241067Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.107",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970 to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:18:42.560460Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.106",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SCN3A as Amber List (moderate evidence)",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:18:42.557484Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.106",
"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 and Gene2Phenotype (Strong). PMID: 34081427 reports that 31/38 (82%) cases have malformation of cortical development. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:18:42.535118Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.106",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:15:00.185632Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.105",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: SCN3A.",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:14:50.527428Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.105",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SCN3A were set to 32515017; 30146301",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:09:40.859148Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.104",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SCN3A were changed from Polymicrogyria; malformations of cortical development; epilepsy to Polymicrogyria, MONDO:0000087; malformations of cortical development; epilepsy, MONDO:0005027; Developmental and epileptic encephalopathy 62, OMIM:617938",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T14:02:01.994253Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.103",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; epilepsy; developmental delay to Polymicrogyria, MONDO:0000087; epilepsy, MONDO:0005027; developmental delay; Developmental and epileptic encephalopathy 99, OMIM:619606",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-06T14:00:59.774707Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.102",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ATP1A3 as Amber List (moderate evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-06T14:00:59.772038Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.102",
"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 and Gene2Phenotype. PMID:33880529 describes additional cases of patients with variants in ATP1A3 who have polymicrogyria. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-06T14:00:59.748397Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.102",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:49:20.677919Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.101",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ATP1A3 were set to 33762331",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:46:05.833796Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: ATP1A3.",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-11-30T14:52:37.611210Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ENO1 as Red List (low evidence)",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-11-30T14:52:37.603268Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-11-30T14:52:37.573729Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: eno1 has been classified as Red List (Low Evidence).",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-11-30T14:51:51.777620Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.99",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ENO1 were changed from Polymicrogyria to Polymicrogyria, MONDO:0000087",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-11-29T14:03:48.277346Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.98",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, MIM# 614225 to Warburg micro syndrome 2, OMIM:614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:47:54.291282Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.97",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: MAPK8IP3.",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:47:44.918877Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.97",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: MAPK8IP3 were set to 30612693",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:47:39.336375Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.96",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Amber List (moderate evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:47:39.332712Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.96",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334). Various brain malformations affecting both cerebral and cerebellar structures identified in all except four individuals. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:47:39.301970Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.96",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:18:32.905151Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.95",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MAPK8IP3 were changed from Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:10:15.080793Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: PI4KA.\nTag Q4_21_rating tag was added to gene: PI4KA.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:07:04.028486Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PI4KA were set to 25855803",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-25T10:06:46.797514Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.93",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: PI4KA: Added comment: There is now enough evidence to support this gene-disease association. This gene should be rated Green at the next review.\r\n\r\nPMID: 25855803. From OMIM: \"3 fetuses were all diagnosed in utero with multiple congenital anomalies resulting in the termination of pregnancy between 16 and 34 weeks' gestation. All fetuses had bilateral perisylvian polymicrogyria and cerebellar hypoplasia or dysplasia. One had a small pons. Additional features included severe talipes equinovarus, externally rotated hips, and variable contractures of the limbs or fingers.\"\r\n\r\nPMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years.\r\n\r\nPMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset.; Changed rating: GREEN; Changed publications to: 25855803, 34415322, 34415310",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:57:04.370126Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.93",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:14:46.936705Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.93",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: TBC1D32.",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:13:43.795699Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.93",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Rare multisystem ciliopathy disorders v1.147",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:13:43.736433Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.93",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TBC1D32 was added\ngene: TBC1D32 was added to Malformations of cortical development. Sources: Radboud University Medical Center, Nijmegen,Expert list,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": "2021-10-01T14:43:13.209821Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.92",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1322",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2021-10-01T14:43:13.163842Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.92",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: VPS50 was added\ngene: VPS50 was added to Malformations of cortical development. Sources: Literature,Expert Review Amber\nwatchlist tags were added to gene: VPS50.\nMode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS50 were set to 34037727\nPhenotypes for gene: VPS50 were set to Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum\nPenetrance for gene: VPS50 were set to Complete",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2021-09-21T14:14:13.373849Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1295",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-09-21T14:14:13.282603Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TP73 was added\ngene: TP73 was added to Malformations of cortical development. Sources: Expert list,Expert Review Amber\nQ3_21_rating tags were added to gene: TP73.\nMode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP73 were set to 31130284; 34077761\nPhenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-09-14T17:27:03.961030Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.90",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Although the MOI could be listed as \"both mono and biallelic\" in order to agree with the MOI listed in OMIM:138249, this was not done on this panel, as the phenotypes of malformation of cortical development have not been reported with biallelic variants.",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T17:27:03.939385Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.90",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T16:58:37.549151Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.89",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: GRIN1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen, although there is a confirmed association with epileptic encephalopathy in Gen2Phen. Nine de novo GRIN1 variants in eleven cases of bilateral polymicrogyria have been reported by Fry et al (PMID: 29365063), analysis of available samples from parents confirmed the de novo occurance of these GRIN1 variants.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T16:41:54.602576Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.89",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: GRIN1.",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T16:40:21.962993Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.89",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, OMIM:614254 to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T16:28:28.155451Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.88",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: GRIN1 were set to 29365063",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T13:50:23.003739Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.87",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: GRIN1 as Amber List (moderate evidence)",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T13:50:22.999380Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.87",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T13:50:22.969870Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.87",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-14T12:12:40.551959Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.86",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM#\t614254 to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, OMIM:614254",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:09:59.996879Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: FAT4.",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:09:51.379426Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: FAT4 as Amber List (moderate evidence)",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:09:51.371979Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.85",
"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 and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:09:51.306614Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-09-13T14:53:56.583198Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.84",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FAT4 were changed from Van Maldergem syndrome 2, MIM# 615546 to Van Maldergem syndrome 2, OMIM:615546",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-09-08T15:47:15.976345Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.83",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: EML1 were set to 31710781",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2021-09-08T15:45:15.091660Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: EML1.",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2021-09-08T15:44:28.563428Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: EML1 as Amber List (moderate evidence)",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2021-09-08T15:44:28.560722Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). EML1 is associated with a relevant phenotype in OMIM (MIM# 600348) but is not yet listed in G2P. Animal models and sufficient number of unrelated cases (>3) with relevant phenotype (periventricular and ribbon-like subcortical heterotopia with polymicrogyria) and variants in this gene to rate as Green at the next GMS panel update.",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2021-09-08T15:44:28.539749Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: eml1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2021-09-08T15:33:02.092734Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EML1 were changed from Band heterotopia (MIM# 600348) to Band heterotopia, OMIM:600348",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:54:34.177780Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DEPDC5 were set to 31444548",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:43:18.502110Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1, OMIM:604364 to Epilepsy, familial focal, with variable foci 1, OMIM:604364; Focal cortical dysplasia",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:43:00.713221Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: DEPDC5.",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:42:52.457840Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DEPDC5 as Amber List (moderate evidence)",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:42:52.454035Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DEPDC5 is associated with a relevant phenotype in OMIM (MIM# 604364) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases (>3) with relevant phenotype (focal cortical dysplasia of variable severity) and variants in this gene to rate as Green at the next GMS panel update.",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:42:52.419077Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: depdc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:31:01.379430Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1 (MIM#604364) to Epilepsy, familial focal, with variable foci 1, OMIM:604364",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:19:03.893582Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DCHS1 is associated with a relevant phenotype in OMIM (MIM# 601390) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases with relevant phenotype and variants in this gene to rate as Green.\r\n\r\nBrain MRI typically shows periventricular nodular heterotopia, often with a dysmorphic corpus callosum or simplified gyral pattern, consistent with a neuronal migration defect.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DCHS1 is associated with a relevant phenotype in OMIM (MIM# 601390) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases (4 patients from 3 families) with relevant phenotype and confirmed variants in this gene to rate as Green.\r\n\r\nBrain MRI typically shows periventricular nodular heterotopia, often with a dysmorphic corpus callosum or simplified gyral pattern, consistent with a neuronal migration defect.",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-09-08T14:18:21.952960Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DCHS1 were set to 27262615; 22473091",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:58:49.655536Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: DCHS1.",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:58:34.024012Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DCHS1 as Amber List (moderate evidence)",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:58:34.017310Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DCHS1 is associated with a relevant phenotype in OMIM (MIM# 601390) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases with relevant phenotype and variants in this gene to rate as Green.\r\n\r\nBrain MRI typically shows periventricular nodular heterotopia, often with a dysmorphic corpus callosum or simplified gyral pattern, consistent with a neuronal migration defect.",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:58:33.976144Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: dchs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:48:05.865841Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DCHS1 were changed from Van Maldergem syndrome 1, OMIM:601390 to Van Maldergem syndrome 1, OMIM:601390; Periventricular nodular heterotopia",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:47:26.826776Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DCHS1 were changed from Van Maldergem syndrome 1\t(MIM#601390) to Van Maldergem syndrome 1, OMIM:601390",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:41:56.768223Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: CTNNA2.",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:40:45.789093Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CTNNA2 as Amber List (moderate evidence)",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:40:45.785774Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). CTNNA2 is associated with a relevant phenotype in OMIM (MIM# 618174) and G2P ('probable' disease confidence rating). There is sufficient evidence to rate this gene as Green at the next GMS panel update - 13 patients from 3 unrelated families, pachygyria without posterior-anterior gradient or focal dysplasias was common to all.",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:40:45.762417Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ctnna2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:31:08.212717Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CTNNA2 were changed from Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:30:01.175843Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CSNK2A1 as Green List (high evidence)",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:30:01.172188Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Three individuals reported by Okur et al., 2016 (PMID: 27048600) displayed cortical abnormalities which meets the threshold for a Green rating. However it should be noted that this is not a common finding and has not been described since the initial report.",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-09-08T13:30:01.142601Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: csnk2a1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-09-08T12:58:16.833180Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CSNK2A1 were set to 27048600",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-09-08T12:41:57.813360Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CSNK2A1 were changed from 617062 to Okur-Chung neurodevelopmental syndrome, OMIM:617062",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-09-07T15:04:12.462203Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: PEX7.\nTag Q3_21_expert_review tag was added to gene: PEX7.",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2021-09-07T15:03:57.442532Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PEX7",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2021-09-07T13:59:52.403996Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PIDD1 as Amber List (moderate evidence)",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-09-07T13:59:52.397155Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-09-07T13:59:41.608195Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PIDD1 was added\ngene: PIDD1 was added to Malformations of cortical development. Sources: Literature\nQ3_21_rating tags were added to gene: PIDD1.\nMode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIDD1 were set to 33414379; 34163010\nPhenotypes for gene: PIDD1 were set to Intellectual disability; Pachygyria; Lissencephaly; Seizures\nReview for gene: PIDD1 was set to GREEN\nAdded comment: At least 9 distinct biallelic variants have been identified in 26 individuals from 11 families. All affected individuals had DD and variable degree of ID (mild to severe) and all those that had brain imaging exhibited cortical abnormalities, particularly pachygyria/lissencephaly and corpus callosum anomalies. Seizures were recorded in 9 patients (6 families). \r\n\r\nOverall there is are sufficient unrelated cases with relevant phenotype and biallelic variants in this gene to rate as Green on this panel. \nSources: Literature",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-09-07T10:54:25.825862Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CRADD were changed from Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 to Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2021-09-07T10:53:17.101879Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CRADD were set to 27773430",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2021-09-07T10:49:41.299507Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CRADD as Amber List (moderate evidence)",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2021-09-07T10:49:41.296698Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Brain phenotypes include megalencephaly with variable lissencephaly/pachygyria. Sufficient number of unrelated cases (>3) to rate as Green on this panel.",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2021-09-07T10:49:41.272951Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cradd has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2021-09-07T10:43:07.350340Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: CRADD.",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2021-09-07T10:24:49.327385Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907, 29021403; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, OMIM:617360; Mode of inheritance: None",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-09-03T14:24:27.910117Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on publications: Gana et al., 2021 (PMID: 34353862) - additional family identified with a 5-year-old girl who inherited a heterozygous nonsense variant in the ARF1 gene (c.234G>A; p.Trp78Ter) from her father. Both displayed periventricular nodular heterotopia on brain MRI but with milder clinical expression in the father.",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-09-03T14:24:27.880378Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ARF1 were set to 28868155",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-09-01T12:54:15.604253Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.61",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: PI4KA.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-09-01T12:54:03.660145Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.61",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PI4KA as Amber List (moderate evidence)",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-09-01T12:54:03.657271Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.61",
"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 and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-09-01T12:54:03.622314Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.61",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pi4ka has been classified as Amber List (Moderate Evidence).",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-09-01T12:25:03.713181Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.60",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531 to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-08-17T14:05:48.326548Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.59",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: B4GAT1.",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T14:05:31.441817Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.59",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: B4GAT1 as Amber List (moderate evidence)",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T14:05:31.434461Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.59",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: 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.",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T14:05:31.384437Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.59",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: b4gat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:57:45.664671Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.58",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: B4GAT1 were set to 23359570; 23877401; 23359570; 23217742",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:45:13.631829Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.57",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: B4GAT1 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 A, 13, OMIM:615287",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:44:12.706829Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.56",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: B4GAT1 were set to 23359570",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:42:27.474214Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: ARF1.",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:42:18.319299Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ARF1 as Amber List (moderate evidence)",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:42:18.316030Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.55",
"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 and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:42:18.281265Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: arf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:33:26.461998Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.54",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARF1 were changed from Periventricular nodular heterotopia 8, MIM#\t618185 to Periventricular nodular heterotopia 8, OMIM:618185",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:29:54.831296Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.53",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MCF2 as Red List (low evidence)",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:29:54.827496Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.53",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:29:54.790070Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.53",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mcf2 has been classified as Red List (Low Evidence).",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:23:07.922995Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MCF2 were changed from Perisylvian polymicrogyria to Perisylvian polymicrogyria; bilateral perisylvian polymicrogyria, MONDO:0020340",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:00:56.864407Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, OMIM:269160",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2021-08-17T13:00:35.363298Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: EMX2 were set to 8528262; 9359037",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2021-08-13T08:37:32.196687Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.49",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: FIG4 as Amber List (moderate evidence)",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2021-08-13T08:37:32.193231Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.49",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with ?Polymicrogyria, bilateral temporooccipital OMIM:612691 in Gen2Phen. A single missense variant has been reported in a large consanguineous Moroccan family, supportive functional studies were also reported (PMID: 24598713).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2021-08-13T08:37:32.166812Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.49",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2021-08-13T08:33:58.464754Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.48",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: FIG4 variants also are associated with Amyotrophic lateral sclerosis 11\tOMIM:612577; Charcot-Marie-Tooth disease, type 4J OMIM:611228 and Yunis-Varon syndrome OMIM:216340, but these phenotypes are not appropriate for this panel.",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2021-08-13T08:33:58.443597Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.48",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: FIG4 were changed from ?Polymicrogyria, bilateral temporooccipital OMIM:612691; bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986 to ?Polymicrogyria, bilateral temporooccipital OMIM:612691; bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2021-08-13T08:31:19.920757Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.47",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: FIG4 were changed from Polymicrogyria with epilepsy MIM# 612691 to ?Polymicrogyria, bilateral temporooccipital OMIM:612691; bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2021-07-30T08:56:05.058190Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1214",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-30T08:56:05.008153Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DPYSL5 was added\ngene: DPYSL5 was added to Malformations of cortical development. Sources: Expert Review Amber,Literature\nQ3_21_rating tags were added to gene: DPYSL5.\nMode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DPYSL5 were set to 33894126\nPhenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-15T11:53:54.947655Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.45",
"user_name": "Rachel Challis",
"item_type": "entity",
"text": "reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 32097629, 32097630; Phenotypes: Intellectual disability, epilepsy, lissencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2021-07-12T11:56:40.762032Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from Periventricular Heterotopia 300049; Melnick-Needles syndrome 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120 to Heterotopia, periventricular, 1, OMIM:300049",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-04-17T01:39:16.085778Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A3 were set to 33762331\nPhenotypes for gene: ATP1A3 were set to Polymicrogyria; epilepsy; developmental delay\nReview for gene: ATP1A3 was set to GREEN\ngene: ATP1A3 was marked as current diagnostic\nAdded comment: Eight individuals with de novo variants reported and a phenotype distinct from those previously reported in association with this gene. \nSources: Literature",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-04-17T01:34:19.633300Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: >20 individuals reported. However note variants were identified on deep sequencing of affected tissue, and are somatic. \nSources: Literature; to: >20 individuals reported. However note variants were identified on deep sequencing of affected tissue, and are somatic. Rated as Amber as uncertain whether panel only caters to germline sequencing.\r\nSources: Literature",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-04-17T01:33:49.473932Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35A2 was added\ngene: SLC35A2 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SLC35A2 were set to 33407896\nPhenotypes for gene: SLC35A2 were set to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)\nReview for gene: SLC35A2 was set to AMBER\nAdded comment: >20 individuals reported. However note variants were identified on deep sequencing of affected tissue, and are somatic. \nSources: Literature",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T09:20:47.202734Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENO1 was added\ngene: ENO1 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ENO1 were set to 32488097\nPhenotypes for gene: ENO1 were set to Polymicrogyria\nReview for gene: ENO1 was set to RED\nAdded comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect though note variants in RERE also cause a neurodevelopmental phenotype. \nSources: Literature",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:45.642391Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly\t616212 to Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2021-01-28T16:24:18.196161Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TMX2 were changed from Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730 to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:20:33.897995Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.42",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: APC2 were set to 31585108",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:19:24.353266Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.41",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: APC2 were changed from Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 to Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:18:25.781301Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.40",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: APC2 as Amber List (moderate evidence)",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:18:25.777859Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.40",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:18:25.761632Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.40",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: apc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:18:12.462592Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.39",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: APC2.",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:17:17.001178Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.39",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2021-01-21T12:16:58.377082Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2021-01-21T12:16:41.829084Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SNAP29 were set to 29051910; 21073448; 30793783",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2021-01-21T12:16:38.320629Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SNAP29.",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2021-01-21T12:16:33.200718Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SNAP29 as Amber List (moderate evidence)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2021-01-21T12:16:33.192801Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Cerebral dysgenesis is a universal feature among patients with CEDNIK syndrome caused by biallelic variants in the SNAP29 gene. Reported cerebral abnormalities of various degrees include absence of corpus callosum, cortical dysplasia, pachygyria and polymicrogyria. \r\n\r\nThere is sufficient evidence to promote SNAP29 to Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2021-01-21T12:16:33.128285Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2021-01-19T15:00:52.365385Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.36",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: VLDLR: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-01-19T15:00:29.205449Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.36",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: VLDLR as Amber List (moderate evidence)",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-01-19T15:00:29.200655Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.36",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least sic variants reported six unrelated cases, in which cerebellar hypoplasia was evident in five cases and two of these had cerebral gyral simplification.",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-01-19T15:00:29.155719Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.36",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Amber List (Moderate Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:47:48.766635Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.35",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: VLDLR.",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:43:28.826255Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.35",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050) to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM:224050",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:34:38.966709Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: LAMA2: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:34:18.821245Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: LAMA2.",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:34:10.016081Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: LAMA2 as Amber List (moderate evidence)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:34:10.008645Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported as biallelic in Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855, with over three cases exhibiting occipital agyria / polymicrogyria.",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:34:09.964875Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:21:42.285984Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: LAMA2 were set to 20207543; 18406646",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:16:20.827760Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-19T11:28:36.856602Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CASK.",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-19T11:28:18.184265Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: CASK: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-19T11:28:01.142219Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CASK as Amber List (moderate evidence)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-19T11:28:01.137364Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants and cases reported.",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-19T11:28:01.099080Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cask has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-19T11:25:56.168559Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.30",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CASK were set to 21954287; 20595373",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-19T11:24:32.062372Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from Gyral simplification to Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-19T09:50:52.519721Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CASK were set to PMID: 21954287, 20595373",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-18T12:00:53.478477Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MN1 were changed from CEBALID syndrome, 618774 to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:40:30.538695Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to 31608932",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:39:29.523332Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark. At least 4 unrelated families with multiple congenital abnormalities and different homozygous truncating variants in the ATP1A2 gene. All affected fetuses display a common cerebral phenotype with multiple cortical malformations and polymicrogyria (PMIDs: 30690204 and 316089320)\r\n\r\nRating Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag); to: Comment on list classification: New gene added by Zornitza Stark. At least 4 unrelated families with multiple congenital abnormalities and different homozygous truncating variants in the ATP1A2 gene. All affected fetuses display a common cerebral phenotype with multiple cortical malformations and polymicrogyria (PMIDs: 30690204 and 31608932)\r\n\r\nRating Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:37:38.894165Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ATP1A2 as Amber List (moderate evidence)",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:37:38.888521Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. At least 4 unrelated families with multiple congenital abnormalities and different homozygous truncating variants in the ATP1A2 gene. All affected fetuses display a common cerebral phenotype with multiple cortical malformations and polymicrogyria (PMIDs: 30690204 and 316089320)\r\n\r\nRating Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:37:38.844754Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:21:46.862380Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ATP1A2.",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-15T17:04:56.025385Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.24",
"user_name": "Ian Berry",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Malformations of cortical development. Sources: NHS GMS\nMode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CASK were set to PMID: 21954287, 20595373\nPhenotypes for gene: CASK were set to Gyral simplification\nReview for gene: CASK was set to GREEN\ngene: CASK was marked as current diagnostic\nAdded comment: Multiple publications reporting a subset of patients with simplified gyral pattern, in addition to the more recognisable features of cerebellar hypoplasia and microcephaly. \nSources: NHS GMS",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-01-15T16:57:51.356398Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.24",
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-15T16:52:41.204885Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.24",
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16174313, 6080122; Phenotypes: Gyral simplification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:08:41.462358Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2A were changed from Cortical dysplasia, complex, with other brain malformations 5 615763 to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:07:58.296680Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TUBB2A were set to 24702957",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:47:23.993921Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: H3F3A: Added new-gene-name tag, new approved HGNC gene symbol for H3F3A is H3-3A",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:47:10.406988Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: H3F3A as Amber List (moderate evidence)",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:47:10.390715Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added as Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:47:10.342924Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: h3f3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:45:49.799026Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: H3F3A was added\ngene: H3F3A was added to Malformations of cortical development. Sources: Literature\nnew-gene-name, for-review tags were added to gene: H3F3A.\nMode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: H3F3A were set to 31942419; 33268356\nPhenotypes for gene: H3F3A were set to Developmental delay; Intellectual disability; Neurodegeneration; Epilepsy; Facial dysmorphism; Congenital anomalies\nReview for gene: H3F3A was set to GREEN\nAdded comment: Currently not associated with any phenotype in OMIM, but is listed in Gene2Phenotype with a 'confirmed' disease confidence rating for 'Craniofacial with neurodevelopment disorders'.\r\n\r\n- PMID: 31942419 (2019) - De novo missense variant identified by trio exome sequencing in a girl with secondary microcephaly, severe DD and ID, growth retardation and dysmorphic features. Brain MRI demonstrated hypoplasia of corpus callosum and cerebellum as well as thin layer of frontal and parietal periventricular gliosis. No functional analyses of the variant or patient cells were performed.\r\n\r\n- PMID: 33268356 (2020) - De novo missense variants identified in 33 unrelated individuals with a shared phenotype of GDD/ID, usually severe and often progressive, with mostly minor congenital anomalies. 23/28 patients showed abnormalities on brain MRI including hypoplasia/agenesis of the corpus collosum (9), cortical atrophy (6) and impaired myelination (5). Variable seizure phenotypes were reported in 17/33 cases, all early-onset where specified, mostly during infancy (latest onset at 14 years of age). \nSources: Literature",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-07T10:15:08.748644Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CEP85L were changed from Lissencephaly, posterior predominant to Lissencephaly 10, OMIM:618873; Lissencephaly 10, MONDO:0030031",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-07T10:14:22.712011Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CEP85L were set to 32097630",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-07T10:13:36.671759Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CEP85L.",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-07T10:13:31.839454Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CEP85L as Amber List (moderate evidence)",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-07T10:13:31.826704Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). \r\n\r\nAt least 13 patients from 9 unrelated families with lissencephaly and heterozygous variants in the CEP85L gene. Mouse model supports a role in neuronal migration. Gene-disease association also included in OMIM.",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-07T10:13:31.753568Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cep85l has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-01T17:05:49.277576Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: 2 papers (PMID: 31585109 and 31650526) describing 13 unrelated individuals with a neurodevelopmental disorder and variants in the CDH2 gene. Clinical features include GDD/ID (10/12), brain malformations - particularly agenesis of corpus callosum (11/13), cardiovascular abnormalities (9/13), and various eye abnormalities (11/13). \r\n\r\nCdh2 knockout in mice is embryonically lethal. Conditional inactivation of Cdh2 in the cerebral cortex leads to cortical disorganisation and CCA similar to the human phenotypes (PMIDs: 9015265, 17222817).\r\nSources: Literature; to: Associated with relevant phenotype in OMIM, and is a 'probable' gene for 'Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects' in Gene2Phenotype.\r\n\r\n2 papers (PMID: 31585109 and 31650526) describing 13 unrelated individuals with a neurodevelopmental disorder and variants in the CDH2 gene. Clinical features include GDD/ID (10/12), brain malformations - particularly agenesis of corpus callosum (11/13), cardiovascular abnormalities (9/13), and various eye abnormalities (11/13). \r\n\r\nCdh2 knockout in mice is embryonically lethal. Conditional inactivation of Cdh2 in the cerebral cortex leads to cortical disorganisation and CCA similar to the human phenotypes (PMIDs: 9015265, 17222817).\r\nSources: Literature",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-12-01T17:00:20.299083Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CDH2 as Amber List (moderate evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-12-01T17:00:20.288646Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-12-01T17:00:20.240382Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cdh2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-12-01T16:58:48.830162Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: 2 papers (PMID: 31585109 and 31650526) describing 13 unrelated individuals with a neurodevelopmental disorder and variants in the CDH2 gene. Clinical features include GDD/ID (10/12), brain malformations - particularly agenesis of corpus callosum (11/13), cardiovascular abnormalities (9/13), and various eye abnormalities (11/13). \r\n\r\nCdh2 knockout in mice is embryonically lethal. Conditional inactivation of Cdh2 in the cerebral cortex leads to cortical disorganization and CCA similar to the human phenotypes (PMIDs cited: 9015265, 17222817). Other animal studies (mouse, zebrafish, chicken, dog, etc) are also cited to link with specific defects. \nSources: Literature; to: 2 papers (PMID: 31585109 and 31650526) describing 13 unrelated individuals with a neurodevelopmental disorder and variants in the CDH2 gene. Clinical features include GDD/ID (10/12), brain malformations - particularly agenesis of corpus callosum (11/13), cardiovascular abnormalities (9/13), and various eye abnormalities (11/13). \r\n\r\nCdh2 knockout in mice is embryonically lethal. Conditional inactivation of Cdh2 in the cerebral cortex leads to cortical disorganisation and CCA similar to the human phenotypes (PMIDs: 9015265, 17222817).\r\nSources: Literature",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-12-01T16:58:04.917438Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: CDH2 was added\ngene: CDH2 was added to Malformations of cortical development. Sources: Literature\nfor-review tags were added to gene: CDH2.\nMode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CDH2 were set to 31585109; 31650526\nPhenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065\nReview for gene: CDH2 was set to GREEN\nAdded comment: 2 papers (PMID: 31585109 and 31650526) describing 13 unrelated individuals with a neurodevelopmental disorder and variants in the CDH2 gene. Clinical features include GDD/ID (10/12), brain malformations - particularly agenesis of corpus callosum (11/13), cardiovascular abnormalities (9/13), and various eye abnormalities (11/13). \r\n\r\nCdh2 knockout in mice is embryonically lethal. Conditional inactivation of Cdh2 in the cerebral cortex leads to cortical disorganization and CCA similar to the human phenotypes (PMIDs cited: 9015265, 17222817). Other animal studies (mouse, zebrafish, chicken, dog, etc) are also cited to link with specific defects. \nSources: Literature",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-11-11T13:51:41.457061Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MAP1B as Amber List (moderate evidence)",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-11-11T13:51:41.453545Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). Multiple unrelated families with different variants in the MAP1B gene and brain malformations, particularly PVNH",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-11-11T13:51:41.433352Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: map1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-11-11T13:44:59.462891Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: MAP1B.",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-11-11T13:44:50.880422Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30150678, 29738522, 31317654; Phenotypes: Periventricular nodular heterotopia 9, 618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-10-20T14:02:59.684831Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TMX2 as Amber List (moderate evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-10-20T14:02:59.679432Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-10-20T14:02:59.631822Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-10-20T13:21:09.763985Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TMX2.",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-28T02:12:36.858663Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-28T02:09:28.404156Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAP29 were set to 29051910; 21073448; 30793783\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)\nReview for gene: SNAP29 was set to GREEN\ngene: SNAP29 was marked as current diagnostic\nAdded comment: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)). \nSources: Expert list",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-28T02:07:39.849463Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN3A was added\ngene: SCN3A was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN3A were set to 32515017; 30146301\nPhenotypes for gene: SCN3A were set to Polymicrogyria; malformations of cortical development; epilepsy\nReview for gene: SCN3A was set to GREEN\ngene: SCN3A was marked as current diagnostic\nAdded comment: Six unrelated families reported with prominent speech and oral motor dysfunction but no epilepsy, some multiplex in PMID: 30146301. Additionally malformations of cortical development reported in ~75% of a cohort of 22 individuals with a broader neurodevelomental phenotype, including epilepsy, PMID: 32515017 \nSources: Expert list",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-28T02:05:27.618971Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB3GAP2 were set to 23420520; 20967465\nPhenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, MIM# 614225\nReview for gene: RAB3GAP2 was set to GREEN\ngene: RAB3GAP2 was marked as current diagnostic\nAdded comment: Polymicrogyria is a well described phenotypic feature in Micro syndrome caused by variants in RAB3GAP2 and other genes.\r\n\r\nPMID: 23420520 – at least 3 unrelated families with polymicrogyria\r\nPMID: 20967465 - single proband with polymicrogyria \nSources: Expert list",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-08-28T02:03:33.907227Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB3GAP1 were set to 23420520\nPhenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, MIM# 600118\nReview for gene: RAB3GAP1 was set to GREEN\ngene: RAB3GAP1 was marked as current diagnostic\nAdded comment: Polymicrogyria is a well described phenotypic feature of Micro syndrome, caused by RAB3GAP1 and other genes.\r\n\r\nPMID: 23420520 - at least 4 unrelated families with polymicrogyria \nSources: Expert list",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-08-28T01:49:48.909586Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB18 was added\ngene: RAB18 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB18 were set to 21473985; 23420520\nPhenotypes for gene: RAB18 were set to Warburg micro syndrome 3, MIM# 614222\nReview for gene: RAB18 was set to GREEN\nAdded comment: Polymicrogyria is a well described phenotypic feature in Micro syndrome, caused by RAB18 and other genes. \r\n\r\nPMID: 21473985 – two unrelated families with polymicrogyria\r\nPMID: 23420520 – one proband with polymicrogyria \nSources: Expert list",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2020-08-28T01:46:05.890623Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTEN were set to 32162846\nPhenotypes for gene: PTEN were set to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309\nReview for gene: PTEN was set to GREEN\ngene: PTEN was marked as current diagnostic\nAdded comment: PMID: 32162846 - 4 unrelated individuals with PTEN variants with polymicrogyria \nSources: Expert list",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-08-28T01:44:23.095201Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PI4KA was added\ngene: PI4KA was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4KA were set to 25855803\nPhenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531\nReview for gene: PI4KA was set to AMBER\nAdded comment: One family reported, we are aware of additional cases. \nSources: Expert list",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2020-08-28T01:41:20.495496Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPRL3 was added\ngene: NPRL3 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NPRL3 were set to 27173016; 26285051\nPhenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3 (MIM#617118)\nReview for gene: NPRL3 was set to GREEN\nAdded comment: Three families reported where focal cortical dysplasia is a feature, but also reduced penetrance noted. Borderline Amber/Green. \nSources: Expert list",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2020-08-28T01:37:15.763751Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPRL2 was added\ngene: NPRL2 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NPRL2 were set to 29281825; 27173016; 31625153\nPhenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, MIM#\t617116\nReview for gene: NPRL2 was set to AMBER\nAdded comment: Focal cortical dysplasia reported in some patients\r\n\r\nPMID: 29281825 (2017) - LOF variant identified in a patient with left frontal focal cortical dysplasia\r\n\r\nPMID: 27173016 (2016) - cohort of focal epilepsy patients. LOF function variant in a family with focal epilepsy and focal cortical dysplasia. Segregated with two affected individuals but reduced penetrance and variable expressivity was observed.\r\n\r\nSummary: associated with focal cortical dysplasia in two families. Recent review (PMID: 31625153) also states, mutations in NPRL2 have been linked to focal epilepsy with a less clear association with Focal Cortical Dysplasia. \nSources: Expert list",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2020-08-28T01:32:43.107379Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to 30612693\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431\nReview for gene: MAPK8IP3 was set to GREEN\ngene: MAPK8IP3 was marked as current diagnostic\nAdded comment: 13 unrelated individuals reported, with de novo truncating or missense variants (one recurrent). Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among individuals harboring recurrent de novo missense variants. \nSources: Expert list",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-08-28T01:30:42.919976Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP1B was added\ngene: MAP1B was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP1B were set to 31317654; 30150678; 30214071\nPhenotypes for gene: MAP1B were set to Periventricular nodular heterotopia 9, MIM# 618918\nReview for gene: MAP1B was set to GREEN\ngene: MAP1B was marked as current diagnostic\nAdded comment: At least 5 families described with intellectual disability and variable brain malformation phenotypes. \nSources: Expert list",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-08-27T23:27:52.113616Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA2 were set to 20207543; 18406646\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855\nReview for gene: LAMA2 was set to GREEN\ngene: LAMA2 was marked as current diagnostic\nAdded comment: Malformations of cortical development are seen in a small proportion of individuals with biallelic LAMA2 variants. These were initially described and characterised based on immunohistochemistry showing loss of the protein associated with LAMA2. Reports where genotyping has been performed include: PMID: 20207543 – 7 individuals with biallelic LAMA2 variants and occipital agyria / polymicrogyria with a further 2 individuals with cortical folding abnormalities in other sites. PMID: 18406646 – 1 individual with a homozygous nonsense LAMA2 variant with extensive bilateral occipital polymicrogyria. \nSources: Expert list",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T23:11:28.721740Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN2B was added\ngene: GRIN2B was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2B were set to 28377535\nPhenotypes for gene: GRIN2B were set to Mental retardation, autosomal dominant 6, MIM# 613970\nReview for gene: GRIN2B was set to GREEN\nAdded comment: PMID: 28377535 - Neuroimaging was performed in 44 of 58 individuals: six unrelated individuals (6/44, 14%) showed a consistent MCD intermediate between typical polymicrogyria (PMG) and the cortical appearance of tubulinopathies, consisting of mixed large and small gyri separated by shallow sulci, a smooth grey-white border and little infolding. These individuals also had hypoplastic corpus callosum of varying degrees, enlarged and mildly dysplastic basal ganglia, hippocampal dysplasia with thick leaves and open hilus as well as enlarged tecta. One had no septum pellucidum. Generalised cerebral volume loss, compatible with cerebral atrophy, was described in four additional patients (4/44; 9%). \nSources: Expert list",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-27T22:49:21.717917Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN1 was added\ngene: GRIN1 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN1 were set to 29365063\nPhenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM#\t614254\nReview for gene: GRIN1 was set to GREEN\ngene: GRIN1 was marked as current diagnostic\nAdded comment: PMID: 29365063 - series of 11 unrelated individuals with GRIN1 variants and polymicrogyria \nSources: Expert list",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:45:22.479287Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FIG4 was added\ngene: FIG4 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FIG4 were set to 18758830; 24598713\nPhenotypes for gene: FIG4 were set to Polymicrogyria with epilepsy MIM# 612691\nReview for gene: FIG4 was set to AMBER\nAdded comment: One family and a supportive mouse model:\r\n\r\nPMID 18758830 – Ben Cheikh et al (2009) studied a large consanguineous Moroccan family in which bilateral occipital polymicrogyria segregated as an autosomal recessive trait, establishing linkage to 6q16-q22 by homozygosity mapping. Three affected individuals had epilepsy and polymicrogyria (other siblings had variable phenotypes).\r\n\r\nPMID 24598713 – Baulac et al (2014) analysed the consanguineous Moroccan family and detected a homozygous missense variant in FIG4, which was homozygous in each of the affected siblings with polymicrogyria, heterozygous in one healthy sibling, not present in three healthy siblings, heterozygous in both parents and not tested in a further four siblings. They went on to study transfected fibroblasts from FIG4 deficient mice and examined histologically brains from FIG4-null mice which had findings that included changes “reminiscent of human cortical malformations”. \nSources: Expert list",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:42:24.632418Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAT4 was added\ngene: FAT4 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAT4 were set to 22473091; 24056717\nPhenotypes for gene: FAT4 were set to Van Maldergem syndrome 2, MIM# 615546\nReview for gene: FAT4 was set to AMBER\nAdded comment: PVNH reported in two families. \nSources: Expert list",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:41:23.394736Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TUBGCP2 as Amber List (moderate evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:41:23.390964Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - at least four families with three distinct TUBGCP2 variants, associated with a lissencephaly-spectrum phenotype.",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:41:23.370225Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:38:44.176094Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TUBGCP2.",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:38:27.727316Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Associated with phenotype in OMIM, and a probable gene for Microcephaly and Lissencephaly Spectrum Disorders in G2P.\r\n\r\nPMID: 31630790 (2019) - Five patients from four families with biallelic variants in the TUBGCP2 gene. Affected individuals shared phenotypic features that included progressive microcephaly (4/4), developmental delay (5/5, mild-severe), seizures (4/5). All patients exhibited lissencephaly-spectrum phenotypes with varying degrees of cortical malformations on brain imaging including pachygyria and subcortical band heterotopia.\r\n\r\nAll variants segregated with disease in each family. Analysis of fibroblasts derived from one patient with a splice site variant revealed several abnormal transcripts, predicted to result in LoF. No further functional studies of other variants or patient cells were performed. \nSources: Literature",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:34:26.461817Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EML1 was added\ngene: EML1 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EML1 were set to 31710781\nPhenotypes for gene: EML1 were set to Band heterotopia (MIM# 600348)\nReview for gene: EML1 was set to GREEN\ngene: EML1 was marked as current diagnostic\nAdded comment: PMID: 31710781; Review of 5 families with patients characterised by severe developmental delay, drug-resistant seizures and visual impairment. On brain imaging of 4 patients, there is megalencephaly with a characteristic ribbon-like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria-like cortical malformation. \nSources: Expert list",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:32:38.363925Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEPDC5 was added\ngene: DEPDC5 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DEPDC5 were set to 31444548\nPhenotypes for gene: DEPDC5 were set to Epilepsy, familial focal, with variable foci 1 (MIM#604364)\nReview for gene: DEPDC5 was set to GREEN\ngene: DEPDC5 was marked as current diagnostic\nAdded comment: PMID: 31444548\r\n- 5x focal cortical dysplasia patients \nSources: Expert list",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:30:50.915018Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCHS1 was added\ngene: DCHS1 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCHS1 were set to 27262615; 22473091\nPhenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1\t(MIM#601390)\nReview for gene: DCHS1 was set to GREEN\ngene: DCHS1 was marked as current diagnostic\nAdded comment: PMID: 27262615;\r\n- cohort of 26x periventricular band heterotopias and 2x had additional phenotype of pachygyria\r\n- 2nd cohort of 10x band heterotopias\r\n\r\nPMID: 22473091;\r\n- 1x patient with localised areas of cortical thickening and gyral simplification \r\nSources: Literature \nSources: Expert list",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:28:55.048688Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAG1: Rating: RED; Mode of pathogenicity: None; Publications: 24052401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:26:32.875822Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNNA2 was added\ngene: CTNNA2 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTNNA2 were set to 30013181\nPhenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174\nReview for gene: CTNNA2 was set to GREEN\ngene: CTNNA2 was marked as current diagnostic\nAdded comment: 13 children from three unrelated families reported. \nSources: Expert list",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:24:32.695893Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSNK2A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27048600, 29240241; Phenotypes: Okur-Chung neurodevelopmental syndrome (MIM#617062); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2020-08-26T15:08:10.620688Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PPP1R12A as Amber List (moderate evidence)",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2020-08-26T15:08:10.615617Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least 5 unrelated cases reported with brain malformations associated with PPP1R12A variants. \r\n\r\nPPP1R12A has been added to this panel following discussion with the clinical team.",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2020-08-26T15:08:10.596014Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2020-08-26T15:02:31.760952Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PPP1R12A was added\ngene: PPP1R12A was added to Malformations of cortical development. Sources: Literature\nfor-review tags were added to gene: PPP1R12A.\nMode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP1R12A were set to 31883643\nPhenotypes for gene: PPP1R12A were set to Genitourinary and/or/brain malformation syndrome, 618820\nReview for gene: PPP1R12A was set to GREEN\nAdded comment: Associated with phenotype in OMIM, and a probable gene for PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations in G2P.\r\n\r\nPMID: 31883643 (2020) - Screening cohorts of patients with holoprosencephaly and patients with disorders of sex development revealed 12 unrelated individuals with de novo LoF variants in the PPP1R12A gene. Variants were associated with a broad spectrum of manifestations, and a clear genotype-phenotype correlation was not observed - most commonly presentation included either malformations of the brain or the genitourinary tract (two individuals exhibited both brain and genitourinary anomalies). 5/12 individuals presented structural CNS anomalies; however, the phenotype was variable and included dysgenesis of the corpus callosum, polymicrogyria, leukomalacia, and acrania. \nSources: Literature",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:29:10.501449Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum). \r\n\r\nMost variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model. \nSources: Literature; to: Associated with phenotype in OMIM, and a probable gene for MN1 C-terminal truncation syndrome in G2P. \r\n\r\nOver 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum). \r\n\r\nMost variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model. \r\nSources: Literature",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:27:36.840171Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MN1 as Amber List (moderate evidence)",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:27:36.835584Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - added to this panel following suggestion from the clinical team.",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:27:36.761840Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:15:45.211369Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: MN1 was added\ngene: MN1 was added to Malformations of cortical development. Sources: Literature\nfor-review tags were added to gene: MN1.\nMode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MN1 were set to 31834374; 31839203; 15870292\nPhenotypes for gene: MN1 were set to CEBALID syndrome, 618774\nReview for gene: MN1 was set to GREEN\nAdded comment: Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum). \r\n\r\nMost variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model. \nSources: Literature",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2020-08-24T11:06:40.572338Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359570, 23877401, 23359570, 23217742; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2020-08-24T11:04:50.637235Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A2 was added\ngene: ATP1A2 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP1A2 were set to 31608932\nPhenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations\nReview for gene: ATP1A2 was set to GREEN\ngene: ATP1A2 was marked as current diagnostic\nAdded comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities including extensive cortical malformations. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia. \nSources: Expert list",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-24T11:02:46.633599Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARF1 was added\ngene: ARF1 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARF1 were set to 28868155\nPhenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, MIM#\t618185\nReview for gene: ARF1 was set to GREEN\ngene: ARF1 was marked as current diagnostic\nAdded comment: Three unrelated individuals reported with de novo missense in this gene. \nSources: Expert list",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T11:01:12.884663Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APC2 was added\ngene: APC2 was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APC2 were set to 31585108\nPhenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677\nReview for gene: APC2 was set to GREEN\ngene: APC2 was marked as current diagnostic\nAdded comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum. \nSources: Expert list",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2020-08-24T10:54:25.503792Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRADD was added\ngene: CRADD was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRADD were set to 27773430\nPhenotypes for gene: CRADD were set to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499\nReview for gene: CRADD was set to GREEN\ngene: CRADD was marked as current diagnostic\nAdded comment: At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported). Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. \nSources: Expert list",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T08:52:48.234887Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-08-24T07:52:06.122420Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B (MIM#614879), Rhizomelic chondrodysplasia punctata, type 1 (MIM#215100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2020-08-24T07:19:06.281066Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VLDLR was added\ngene: VLDLR was added to Malformations of cortical development. Sources: Expert list\nMode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VLDLR were set to 16080122; 18364738; 18326629; 22700954; 22973972\nPhenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)\nReview for gene: VLDLR was set to GREEN\ngene: VLDLR was marked as current diagnostic\nAdded comment: Gyral simplification/pachygyria reported in this condition. \nSources: Expert list",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-08-03T11:09:20.120779Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCF2 was added\ngene: MCF2 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MCF2 were set to 31846234\nPhenotypes for gene: MCF2 were set to Perisylvian polymicrogyria\nReview for gene: MCF2 was set to RED\nAdded comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model. \nSources: Literature",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2020-07-30T15:25:44.379288Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: TUBB2A: Changed publications: 32571897",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-30T15:24:46.395061Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:19:22.226551Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TMX2 as Green List (high evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:19:22.214952Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Primary microcephaly, cortical malformation and epileptic encephalopathy. At least 7 variants reported in at least 9 unrelated cases of Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730 (PMID 31735293; 31270415).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:19:22.190089Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:07:52.908971Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TMX2 was added\ngene: TMX2 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31586943; 31735293; 31270415\nPhenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730\nReview for gene: TMX2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-04-28T06:57:15.630496Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Please note publication disputing gene-disease association.; to: Please note publication disputing gene-disease association. Also note only pathogenic variants in ClinVar are from 1996, all the rest are VOUS/LB.",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2020-04-28T06:56:01.401471Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18409201; Phenotypes: Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2020-02-27T07:37:11.574299Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP85L was added\ngene: CEP85L was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEP85L were set to 32097630\nPhenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant\nReview for gene: CEP85L was set to GREEN\nAdded comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. \nSources: Literature",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-02-25T10:52:24.842828Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"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": "2020-02-25T10:51:34.188186Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-11T15:39:17.116966Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.1",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-11T15:38:36.622614Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"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": "2019-12-11T15:38:27.934394Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.172",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-06T15:00:45.079767Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.171",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: KIF1BP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2019-09-06T15:00:39.173161Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.171",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1BP",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2019-08-12T12:05:01.316408Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.171",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: EMX2 as Green List (high evidence)",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2019-08-12T12:05:01.308968Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.171",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: emx2 has been classified as Green List (High Evidence).",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2019-08-12T12:04:45.265850Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.170",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From review Rebecca Foulger (Genomics England curator) [email protected]\r\nReview from Genetic epilepsy syndromes panel:\r\nComment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.\r\nCreated: 29 Nov 2018, 11:05 a.m.\r\n\r\nFaiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).\r\nCreated: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.\r\n\r\nPanel Version: 1.173; to: From review Rebecca Foulger (Genomics England curator) Review from Genetic epilepsy syndromes panel:\r\nComment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.\r\nCreated: 29 Nov 2018, 11:05 a.m.\r\n\r\nFaiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).\r\nCreated: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.\r\n\r\nPanel Version: 1.173",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2019-08-12T12:04:34.358038Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.170",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From review \r\nRebecca Foulger (Genomics England curator)\r\[email protected]\r\nI don't know\r\n\r\nReview from Genetic epilepsy syndromes panel:\r\n\r\nComment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.\r\nCreated: 29 Nov 2018, 11:05 a.m.\r\n\r\nFaiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).\r\nCreated: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.\r\n\r\nPanel Version: 1.173; to: From review Rebecca Foulger (Genomics England curator) [email protected]\r\nReview from Genetic epilepsy syndromes panel:\r\nComment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.\r\nCreated: 29 Nov 2018, 11:05 a.m.\r\n\r\nFaiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).\r\nCreated: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.\r\n\r\nPanel Version: 1.173",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2019-08-12T12:04:08.804064Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.170",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: EMX2: From review \r\nRebecca Foulger (Genomics England curator)\r\[email protected]\r\nI don't know\r\n\r\nReview from Genetic epilepsy syndromes panel:\r\n\r\nComment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.\r\nCreated: 29 Nov 2018, 11:05 a.m.\r\n\r\nFaiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).\r\nCreated: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.\r\n\r\nPanel Version: 1.173",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2019-08-12T12:02:26.485241Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.170",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: EMX2 was added\ngene: EMX2 was added to Malformations of cortical development. Sources: Other\nMode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EMX2 were set to 8528262; 9359037\nPhenotypes for gene: EMX2 were set to Schizencephaly, 269160\nReview for gene: EMX2 was set to GREEN\nAdded comment: Due to a webex to discuss R59 (https://panelapp.genomicsengland.co.uk/panels/489/) on Aug 8th 2019 (RF, EM, RS with WWMGLH), some discussion points overlapped with additional panels and it was agreed that EMX2 should be added to the : Malformations of cortical development panel : https://panelapp.genomicsengland.co.uk/panels/96/ which a component of the GMS Super panels: https://panelapp.genomicsengland.co.uk/panels/96/ and Cerebral malformations (https://panelapp.genomicsengland.co.uk/panels/491/).\r\nPhenotype is: Schizencephaly \nSources: Other",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2019-03-12T12:14:40.516258Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.167",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels.",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2019-03-12T12:14:40.505636Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.167",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MACF1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2019-03-12T12:10:37.550641Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.166",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: MACF1 as Green List (high evidence)",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2019-03-12T12:10:37.547845Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.166",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716.",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2019-03-12T12:10:37.533533Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.166",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2019-03-12T12:10:02.100960Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.165",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MACF1 was added\ngene: MACF1 was added to Malformations of cortical development. Sources: Literature\nMode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MACF1 were set to 30471716\nPhenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, 618325\nReview for gene: MACF1 was set to GREEN\nAdded comment: Added MACF1 to 'Malformations of cortical development' panel on advice from Helen Brittain after MACF1 was reviewed by Sarah Leigh on the 'Genetic Epilepsy Syndromes' and 'Intellectual disability' panels. PMID:30471716 (Dobyns et al 2018) recognized a complex brainstem malformation in three unrelated children with MACF1 variants. They searched their large brain-malformation databases and found another five children with this malformation (as well as one with a less severe variant). The brain malformation comprised posterior predominant lissencephaly and midline crossing defects consisting of absent anterior commissure and a striking W-shaped brainstem malformation caused by small or absent pontine crossing fibers. \nSources: Literature",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2019-01-28T16:26:36.084623Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ISPD",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2019-01-28T16:26:30.907667Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.164",
"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": "2018-12-19T13:40:29.884515Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.164",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-12-19T11:32:58.793944Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.163",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-16T09:03:45.634386Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.161",
"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": "2018-11-05T09:25:45.441153Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.160",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: TUBA8.",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2018-11-05T09:22:01.461593Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.160",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Amber List (moderate evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2018-11-05T09:22:01.457614Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.160",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber based on re-review of evidence. Demotion was agreed by Clinical Fellow Helen Brittain. \r\n\r\nTUBA8 was originally rated Green on the panel because TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180) and TUBA8 is on the UKGTN 43 gene panel for brain malformations:\r\nhttps://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/brain-malformation-disorders-cortical-43-gene-panel-886/.\r\n\r\nHowever, the reported evidence comes from one 2009 paper (PMID:19896110) with 4 literature cases coming from 2 consaguineous families (1 variant); at least PMID:25008804 questions whether the families are related. A 2017 paper identifies an additional VUS (compound heterozygous) in a chinese EE patient (PMID:29588952).\r\n\r\nAnna de Burca confirmed that there are lots of cases with CNVs involving TUBA8 in DECIPHER but there are only two cases with SNVs in the gene. One of them is classified as unknown pathogenicity, the other likely benign.\r\n\r\nI contacted Usha Kini at Oxford, and also the Leeds and Cardiff genetic testing groups (as recommended by Usha) since they all offer cortical malformation panels. All three confirmed (pers. comm. via email) that they have no further cases for TUBA8. \r\n\r\nThe literature evidence and communications from Oxford, Leeds and Cardiff all support demotion of TUBA8 to Amber rating: The phenotype is still appropriate for the panel but insufficient cases for diagnostic rating.\r\n\r\nAdded 'watchlist' tag to look out for further cases.",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2018-11-05T09:22:01.431696Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.160",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2018-11-05T09:20:08.743962Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.159",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM and DD-Gene2Phenotype.",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2018-11-05T09:20:08.719970Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.159",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2018-11-05T09:06:00.771539Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.158",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2018-11-05T09:06:00.746908Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.158",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2018-11-01T15:19:22.691637Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.157",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: MTOR as Green List (high evidence)",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2018-11-01T15:19:22.688537Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.157",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Amber to Green due to ID panel review there is enough evidence to support MTOR and Focal cortical dysplasia, type II.",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2018-11-01T15:19:22.660330Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.157",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: mtor has been classified as Green List (High Evidence).",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2018-09-24T09:01:32.450312Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.156",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: TUBB as Green List (high evidence)",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2018-09-24T09:01:32.447652Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.156",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Updated rating from Amber to Green following reassessment of evidence as suggested by Helen Brittain, TUBB is a confirmed Gene2Phenotype gene for cortical dysplasia disorder (MIM:615771). Plus 3 unrelated cases from the literature (PMID:23246003).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2018-09-24T09:01:32.431620Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.156",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: tubb has been classified as Green List (High Evidence).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:59:38.648836Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.155",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: TUBB: In 3 unrelated children of different ethnicities with complex cortical dysplasia with other brain malformations-6 (MIM:615771) and microcephaly, Breuss et al. (2012, PMID:23246003) identified 3 different de novo heterozygous missense variants in the TUBB gene.",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:57:31.342202Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.155",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: TUBB were set to 27010057, 23246003; 30016746",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:57:18.092333Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.154",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on publications: TUBB is called TUBB5 in some literature (e.g. PMID:23246003).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:57:18.071164Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.154",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: TUBB were set to 27010057, 23246003",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2018-09-24T08:49:07.182652Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.153",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB were changed from Cortical dysplasia, complex, with other brain malformations 6 to Cortical dysplasia, complex, with other brain malformations 6, 615771",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2018-09-07T16:49:26.825157Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "1.152",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37430-Loss was added\nRegion: ISCA-37430-Loss was added to Malformations of cortical development. Sources: ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2018-07-06T09:11:58.673458Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked gene: OSGEP as ready",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2018-07-06T09:11:47.899670Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified OSGEP as Green List (high evidence)",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2018-07-06T09:11:18.516382Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2018-04-23T13:44:18.289320Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of PEX11A",
"entity_name": "PEX11A",
"entity_type": "gene"
},
{
"created": "2018-04-23T13:43:38.359898Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX11A",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:54.017851Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX7",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:54.003146Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX6",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.986861Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX5",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.971884Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX3",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.955964Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX26",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.940338Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX2",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.924286Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX19",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.908072Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX16",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.892532Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX14",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.874488Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX13",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.857619Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX12",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.840521Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX11B",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.813130Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX10",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:42:53.761402Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed PEX1",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:42.571373Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:42.326440Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:42.124176Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:41.884491Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:41.562279Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:41.316518Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:40.976102Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:40.785852Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:40.562798Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:40.375666Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:40.171606Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:39.955329Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:39.757018Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2018-04-23T11:30:39.482532Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2018-03-21T13:15:05.465532Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on TMEM5",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2017-12-18T13:14:30.900324Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on EOMES",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2017-12-18T13:14:20.227672Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2017-11-07T10:46:39.738458Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified CDK13 as Green List (high evidence)",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2017-09-22T14:57:51.848000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified TSC2 as red",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2017-09-22T14:55:56.262000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added TSC2 to panel",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2017-09-22T14:55:54.314000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed TSC2",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2017-09-22T14:43:26.522000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified TSC1 as amber",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2017-09-22T14:42:18.171000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added TSC1 to panel",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2017-09-22T14:42:16.204000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed TSC1",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2017-09-22T13:32:10.720000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified MTOR as amber",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2017-09-22T13:31:53.313000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added MTOR to panel",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2017-09-22T13:31:52.798000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed MTOR",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2017-08-30T10:52:55.845000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified SMO as green",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2017-08-30T10:51:03.893000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on SMO",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2017-08-30T10:50:36.817000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on SMO",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2017-08-30T10:49:19.071000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "added SMO to panel",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2017-08-30T10:49:18.542000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed SMO",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2017-05-05T08:33:35.323000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on AKT3",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2017-04-03T15:58:54.989000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on FLNA",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2017-02-27T09:44:25.855000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "marked CSNK2A1 as ready",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2017-02-27T09:44:15.075000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "classified CSNK2A1 as green",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2017-02-27T09:42:44.391000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "added CSNK2A1 to panel",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2017-02-27T09:42:43.924000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "reviewed CSNK2A1",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:50:55.385000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "approved panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2016-12-19T14:40:54.151000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified TUBB3 as green",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:40:54.150000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on TUBB3",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:39:55.991000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified TUBB3 as green",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:37:35.162000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:37:32.148000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified B3GALNT2 as green",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:36:57.222000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added B3GALNT2 to panel",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:36:56.776000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed B3GALNT2",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:32:51.669000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked GMPPB as ready",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:32:05.233000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added GMPPB to panel",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:32:04.733000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed GMPPB",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:27:44.630000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TMEM5 as ready",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:27:15.125000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added TMEM5 to panel",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:27:14.638000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed TMEM5",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:22:47.965000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked B4GAT1 as ready",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:22:13.230000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added B4GAT1 to panel",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:22:12.732000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed B4GAT1",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:09:30.155000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked DAG1 as ready",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:09:11.906000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added DAG1 to panel",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:09:11.434000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed DAG1",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:05:51.716000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:05:06.672000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added POMGNT2 to panel",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:05:06.241000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed POMGNT2",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2016-12-19T14:01:40.578000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:59:32.595000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added POMK to panel",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:59:32.062000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed POMK",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:54:07.081000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ASPM as ready",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:53:47.297000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added ASPM to panel",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:53:46.886000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ASPM",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:50:43.315000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked KIAA1279 as ready",
"entity_name": "KIAA1279",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:49:26.901000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added KIAA1279 to panel",
"entity_name": "KIAA1279",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:49:26.461000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed KIAA1279",
"entity_name": "KIAA1279",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:44:46.237000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:44:42.022000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified GPSM2 as green",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:44:23.601000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added GPSM2 to panel",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2016-12-19T13:44:23.151000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed GPSM2",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:53:08.579000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBA1A as ready",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:52:10.686000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:51:10.691000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked NDE1 as ready",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:49:49.469000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:48:20.405000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:45:01.092000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked DCX as ready",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:43:32.886000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:41:25.122000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ADGRG1 as ready",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:12:57.112000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked RTTN as ready",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:12:08.033000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added RTTN to panel",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:12:07.592000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed RTTN",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:06:04.194000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked OCLN as ready",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:06:00.725000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified OCLN as green",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:05:48.144000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added OCLN to panel",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2016-12-19T12:05:47.745000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed OCLN",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:55:57.280000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:55:44.316000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added ISPD to panel",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:55:43.907000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ISPD",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:48:01.115000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:46:41.627000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added FKTN to panel",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:46:41.223000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed FKTN",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:40:00.197000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ERMARD as ready",
"entity_name": "ERMARD",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:39:50.033000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added ERMARD to panel",
"entity_name": "ERMARD",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:39:49.637000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ERMARD",
"entity_name": "ERMARD",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:35:50.402000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CCND2 as ready",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:35:30.736000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified CCND2 as green",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:35:17.227000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added CCND2 to panel",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2016-12-19T11:35:15.967000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed CCND2",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:56:31.446000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBG1 as ready",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:56:26.053000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified TUBG1 as green",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:55:58.530000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed TUBG1",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:50:27.834000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBB as ready",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:49:46.491000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified TUBB as amber",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:48:36.121000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBB2A as ready",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:47:31.994000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified TUBB2A as green",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:47:16.202000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed TUBB2A",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:43:43.430000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked RELN as ready",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:42:36.138000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified RELN as green",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:40:42.288000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked LAMC3 as ready",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:40:42.287000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on LAMC3",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:37:02.806000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked KIF5C as ready",
"entity_name": "KIF5C",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:37:02.805000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on KIF5C",
"entity_name": "KIF5C",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:36:39.724000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified KIF5C as green",
"entity_name": "KIF5C",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:34:21.289000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked KIF2A as ready",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:34:21.288000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on KIF2A",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:33:44.107000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified KIF2A as green",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:30:34.062000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2016-12-19T10:30:34.061000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on TUBA8",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:54:46.795000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:53:40.917000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed TUBB2B",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:52:19.344000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBB3 as ready",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:48:02.900000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed TUBB",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:39:28.105000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:39:28.104000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on PIK3R2",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:38:36.209000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified PIK3R2 as green",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:36:47.909000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:36:47.909000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on PIK3CA",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:36:31.031000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified PIK3CA as green",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:33:14.120000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked WDR62 as ready",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:33:00.036000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified WDR62 as green",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:29:33.809000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:29:33.808000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on POMT2",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:29:03.280000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified POMT2 as green",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:26:29.730000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:26:29.729000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on POMT1",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:26:24.620000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified POMT1 as green",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:05:24.186000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:05:24.185000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on POMGNT1",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:05:06.058000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified POMGNT1 as green",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:01:44.027000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked NEDD4L as ready",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2016-12-15T16:01:44.026000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on NEDD4L",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:58:41.504000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified NEDD4L as green",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:54:46.985000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked LARGE as ready",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:54:46.984000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on LARGE",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:54:32.152000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified LARGE as green",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:53:00.977000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked LAMB1 as ready",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:52:49.496000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified LAMB1 as green",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:49:41.417000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:49:41.416000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on FKRP",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:48:40.404000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified FKRP as green",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:46:07.563000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked DYNC1H1 as ready",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:46:07.562000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on DYNC1H1",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:45:13.391000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified DYNC1H1 as green",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:40:19.529000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ARFGEF2 as ready",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:39:29.261000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified ARFGEF2 as green",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:38:00.174000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:38:00.174000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on AKT3",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:37:44.116000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified AKT3 as green",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:33:36.091000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:33:36.091000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on ACTG1",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:33:11.200000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified ACTG1 as green",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:31:29.986000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified ACTB as green",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:31:11.940000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2016-12-15T15:31:11.940000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on ACTB",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2016-12-14T17:35:10.913000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "rejected panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2016-12-09T15:35:21.752000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on LARGE",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:28:47.905000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed TUBA8",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:27:57.900000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed RELN",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:26:53.967000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed RELN",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:24:59.062000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added LAMB1 to panel",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:24:58.767000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed LAMB1",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:22:14.871000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed LAMC3",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:18:44.929000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added NEDD4L to panel",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:18:44.642000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed NEDD4L",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:17:48.793000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added LARGE to panel",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:17:48.517000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed LARGE",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:16:54.198000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added FKRP to panel",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:16:53.917000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed FKRP",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:12:25.917000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added POMGNT1 to panel",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:12:25.652000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed POMGNT1",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:11:14.002000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added POMT2 to panel",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:11:13.750000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed POMT2",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:10:17.103000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added POMT1 to panel",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:10:16.854000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed POMT1",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2016-12-08T12:08:34.068000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed KIF5C",
"entity_name": "KIF5C",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:52:58.304000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed KIF2A",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:50:01.163000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added WDR62 to panel",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:50:00.924000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed WDR62",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:40:44.777000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added PIK3R2 to panel",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:40:44.521000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed PIK3R2",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:39:16.164000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added AKT3 to panel",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:39:15.937000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed AKT3",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:37:54.022000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added PIK3CA to panel",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:37:53.790000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed PIK3CA",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:31:54.305000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added ARFGEF2 to panel",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:31:54.087000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed ARFGEF2",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:30:57.661000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added ACTG1 to panel",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:30:57.429000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed ACTG1",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:29:06.757000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added ACTB to panel",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:29:06.534000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed ACTB",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:14:31.181000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "added DYNC1H1 to panel",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2016-12-08T11:14:30.978000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Usha Kini",
"item_type": "entity",
"text": "reviewed DYNC1H1",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2016-11-22T13:03:53.794000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "promoted panel to version 1",
"entity_name": null,
"entity_type": null
},
{
"created": "2016-11-22T12:42:42.333000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified KATNB1 as green",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2016-11-22T12:40:04.734000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified KATNB1 as green",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2016-11-22T12:39:31.637000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2016-11-22T12:39:31.625000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on KATNB1",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2016-11-22T10:48:25.654000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked RELN as ready",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2016-11-22T10:43:16.158000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified RELN as red",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2016-11-22T10:37:46.603000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on RELN",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:21:55.380000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked TUBA1A as ready",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:21:55.379000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on TUBA1A",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:20:08.604000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified TUBA1A as green",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:17:30.628000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified FLNA as green",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:15:29.650000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked NDE1 as ready",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:15:29.648000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on NDE1",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:12:01.158000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified NDE1 as green",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:08:37.803000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified FLNA as green",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:08:24.085000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2016-11-01T13:03:56.598000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on FLNA",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2016-11-01T12:45:38.714000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked DCX as ready",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2016-11-01T12:45:38.713000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on DCX",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2016-11-01T12:39:55.359000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified DCX as green",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2016-11-01T12:33:07.733000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2016-11-01T12:33:07.732000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on ARX",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2016-11-01T12:27:24.965000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified ARX as green",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2016-11-01T12:19:36.517000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2016-11-01T12:19:36.516000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on PAFAH1B1",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2016-11-01T11:51:28.514000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked ADGRG1 as ready",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2016-11-01T11:51:28.513000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on ADGRG1",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2016-11-01T11:50:17.450000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified ADGRG1 as green",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2016-10-04T19:10:21.464000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed TUBA1A",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2016-10-04T19:08:47.817000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed NDE1",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2016-10-04T19:08:09.495000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed FLNA",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2016-10-04T19:06:57.037000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed DCX",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2016-10-04T19:05:58.804000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed ARX",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2016-10-04T19:04:22.213000Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": null,
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed ADGRG1",
"entity_name": "ADGRG1",
"entity_type": "gene"
}
]