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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=449",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=447",
"results": [
{
"created": "2024-05-22T13:14:40.585711+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: ALDH18A1: Changed rating: GREEN",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2024-05-22T13:14:35.452974+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALDH18A1 were set to 32017139, 26026163, 26320891\nPhenotypes for gene: ALDH18A1 were set to P5CS deficiency MONDO:0100126\nAdded comment: Classified Definitive on 18/05/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004093\r\n\r\nP5CS is an important enzyme in several amino acid pathways. >10 Individuals with abnormal biochemistry and function studies have been conducted. \r\n\r\nMechanism of disease is variable LOF depending on the mutation present which results in the spectrum of severity in the phenotype. \r\nDominant negative mutations have a less severe phenotype (AD cutis laxa/hsp) to the severely affected proteins having no activity (AR cutis laxa/hsp) (PMID: 32017139). \nSources: ClinGen",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2024-05-22T12:31:30.380335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B2M: Changed phenotypes: Amyloidosis, hereditary systemic 6, MIM# 620659, Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c, MONDO:0009434, Amyloidosis, familial visceral, MIM# 105200",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2024-05-22T12:30:27.743132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYZ were changed from Amyloidosis, renal, MIM# 105200 to Amyloidosis, renal, MIM# 105200; Amyloidosis, hereditary systemic 5, MIM#\t620658",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2024-05-22T12:29:26.087206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOA1 were changed from Amyloidosis, 3 or more types MIM#105200; Hypoalphalipoproteinemia, primary, 2 MIM#618463; Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836 to Amyloidosis, hereditary systemic 3, MIM#\t620657; Amyloidosis, 3 or more types MIM#105200; Hypoalphalipoproteinemia, primary, 2 MIM#618463; Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2024-05-22T12:17:37.717582+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: AHCY was added\ngene: AHCY was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AHCY were set to 13641268, 15024124, 16736098, 20852937, 22959829, 30121674, 26527160, 26095522, 27848944, 31957987, 35463910\nPhenotypes for gene: AHCY were set to hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404\nReview for gene: AHCY was set to GREEN\nAdded comment: Individuals present with psychomotor delay along with biochemical abnormalities (elevated plasma SAH, SAM, methionione and creatine kinase with decreased SAM/SAH ratio). \r\nAt least 10 probands (majority having missense variants but nonsense variants have been reported as well) have been reported with a biochemical abnormality. LoF is the mechanism of disease. \r\n\r\nClassified Moderate on 12/12/2022 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004077 \nSources: ClinGen",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:40:18.031431+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-22T11:39:26.425590+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNB2 as ready",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:39:26.416532+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:39:18.511187+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNB2 as Amber List (moderate evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:39:18.495663+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:36:50.758420+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066\r\n\r\nMultiple reported in individuals with ADK deficiency. \r\nLoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. \r\nSources: ClinGen; to: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066\r\n\r\nADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period.\r\nMultiple reported in individuals with ADK deficiency. \r\nLoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. \r\nSources: ClinGen",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:36:48.714884+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA6 as ready",
"entity_name": "GABRA6",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:36:48.705865+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra6 has been classified as Red List (Low Evidence).",
"entity_name": "GABRA6",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:36:39.485024+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: ADK: Changed phenotypes: adenosine kinase deficiency MONDO:0100255",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:36:15.766818+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066\r\n\r\nADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period. \r\nMultiple reported in individuals with ADK deficiency. \r\nLoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. \nSources: ClinGen; to: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066\r\n\r\nMultiple reported in individuals with ADK deficiency. \r\nLoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. \r\nSources: ClinGen",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:36:15.627408+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: FAME1 as ready",
"entity_name": "FAME1",
"entity_type": "str"
},
{
"created": "2024-05-22T11:36:15.610774+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: fame1 has been removed from the panel.",
"entity_name": "FAME1",
"entity_type": "str"
},
{
"created": "2024-05-22T11:36:09.545839+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified STR: FAME1 as No list",
"entity_name": "FAME1",
"entity_type": "str"
},
{
"created": "2024-05-22T11:36:09.530909+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: fame1 has been removed from the panel.",
"entity_name": "FAME1",
"entity_type": "str"
},
{
"created": "2024-05-22T11:35:54.423685+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: ADK: Changed phenotypes: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:35:14.578541+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ADK was added\ngene: ADK was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891\nPhenotypes for gene: ADK were set to adenosine kinase deficiency MONDO:0100255\nReview for gene: ADK was set to GREEN\nAdded comment: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066\r\n\r\nADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period. \r\nMultiple reported in individuals with ADK deficiency. \r\nLoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. \nSources: ClinGen",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-22T11:01:32.230342+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ACY1 was added\ngene: ACY1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396\nPhenotypes for gene: ACY1 were set to aminoacylase 1 deficiency MONDO:0012368\nReview for gene: ACY1 was set to GREEN\nAdded comment: Classified Definitive on 25/09/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004051\r\n\r\nReported in >5 unrelated individuals with biochemically abnormal organic aciduria. \r\nLoF appears to be the mechanism of disease but no functional studies conducted at this stage. \nSources: ClinGen",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:34:00.458877+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAPGEF2 as ready",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:34:00.445002+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapgef2 has been removed from the panel.",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:27:55.638937+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX10 as Green List (high evidence)",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:27:55.628435+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Green List (High Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:27:19.243150+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:25:42.647831+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:25:42.638770+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:25:33.514354+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KATNB1 as Green List (high evidence)",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:25:33.503439+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:24:57.413345+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 6, with microcephaly MIM#616212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:23:52.597760+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JARID2 as ready",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:23:52.587631+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jarid2 has been classified as Red List (Low Evidence).",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:22:29.283072+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JARID2 as ready",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:22:29.266440+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jarid2 has been classified as Red List (Low Evidence).",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:21:24.864279+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF4A as ready",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:21:24.855895+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:20:09.010141+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3A as ready",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:20:08.997602+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3a has been classified as Green List (High Evidence).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:20:05.581069+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3A were changed from to Angelman syndrome, MIM#105830",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:19:14.068663+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE3A were set to ",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:18:36.285951+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:17:30.573076+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2A as ready",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:17:30.557136+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2a has been classified as Green List (High Evidence).",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:17:27.159511+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE2A were changed from to Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:16:43.786736+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2A were set to ",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:16:00.753499+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE2A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:15:14.098720+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: >3 families reported. Obligate carrier females unaffected. \r\nClinGen: Definitively associated with syndromic X-linked ID; to: >3 families reported. Obligate carrier females unaffected. \r\nClinGen: Definitively associated with syndromic X-linked ID. Seizures are part of the phenotype.",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:14:44.065065+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE2A: Changed phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:14:04.166883+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBG1 as ready",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:14:04.151604+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubg1 has been classified as Green List (High Evidence).",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:14:01.030840+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:13:19.653835+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBG1 were set to ",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:12:39.119067+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:11:45.047943+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB4A as ready",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:11:45.033278+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb4a has been classified as Green List (High Evidence).",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:11:41.427958+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB4A were changed from to Leukodystrophy, hypomyelinating, 6, OMIM # 612438",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:11:01.799844+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB4A were set to ",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:10:21.604613+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:09:42.972688+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBB4A: Changed phenotypes: Leukodystrophy, hypomyelinating, 6, OMIM # 612438",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:09:35.250074+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. At least 8 unrelated families reported.\r\n\r\nLeukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood.; to: Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood. Seizures are part of the phenotype.",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:08:30.727593+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:08:30.705753+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Green List (High Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:08:18.626969+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:07:39.492150+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2B were set to ",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:06:54.430077+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:06:02.595835+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB as ready",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:06:02.572343+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb has been classified as Green List (High Evidence).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:05:40.284971+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:03:58.214613+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB were set to ",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:03:14.054655+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:02:32.474769+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.; to: Established gene-disease association. Seizures are part of the phenotype.",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:02:02.922174+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA1A as ready",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:02:02.902140+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1a has been classified as Green List (High Evidence).",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:01:49.360042+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-05-22T07:00:02.638785+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:58:56.771535+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN54 as ready",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:58:56.761906+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Green List (High Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:58:48.000867+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:58:03.482711+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:57:24.958888+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review.; to: Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review. Seizures are part of the PCH phenotype.",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:56:47.328607+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:56:47.313168+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:56:42.601246+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis 2, MIM# 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:56:05.030917+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:55:28.463503+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:54:45.201274+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:54:45.182790+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:54:36.654247+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis 1, MIM# 191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:53:57.570993+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:53:19.357791+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:52:28.254067+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:52:28.245361+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:52:23.646317+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:51:44.038143+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPP1 were set to ",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:50:59.074432+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:50:21.662448+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TPP1: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:49:10.224977+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF4 as ready",
"entity_name": "TCF4",
"entity_type": "gene"
}
]
}