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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=467",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=465",
"results": [
{
"created": "2024-04-21T10:47:30.270439+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PARK7 were changed from to autosomal recessive early-onset Parkinson disease 7 MONDO:0011658",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:43:43.440991+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:43:30.717869+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:43:12.412520+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:43:00.834840+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:42:45.213584+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:42:34.204510+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:42:11.364574+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:41:36.280682+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:41:13.942532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:40:54.764184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:40:31.194822+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-21T09:39:54.183509+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:25:18.714245+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PARK7 were set to ",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:24:28.629960+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PARK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:20:48.346428+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SETX as ready",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:20:48.335779+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: setx has been classified as Green List (High Evidence).",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:20:11.387021+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SETX were changed from to Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:19:11.094359+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SETX were set to ",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:17:47.075804+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:14:30.878400+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ANG as ready",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:14:30.869083+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ang has been classified as Red List (Low Evidence).",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:13:13.551289+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANG was added\ngene: ANG was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: ANG was set to Unknown\nPublications for gene: ANG were set to 33875291; 25386690\nPhenotypes for gene: ANG were set to Parkinson disease MONDO:0005180\nReview for gene: ANG was set to RED\nAdded comment: Multiple large studies not finding an association with PD \nSources: Literature",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:09:24.167409+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A single family reported p.Gln290* segregating (incomplete penetrance) with essential tremor, also two missense variants reported in 2 probands which are too common in gnomAD and have been classified as LB in ClinVar. A reported ET risk variant Met392Ile in a Chinese population - set 1 odds ratio = 4.72 [95% confidence interval = 1.90-11.71], p = 0.0037). Validation set 2 (joint analysis odds ratio = 3.92 [95% confidence interval = 1.57-9.82], p = 8.6 × 10(-4). This variant has been classified as LB in ClinVar. \nSources: Literature; to: A single family reported p.Gln290* segregating (incomplete penetrance) with essential tremor, also two missense variants reported in 2 probands which are too common in gnomAD and have been classified as LB in ClinVar. One of these (Pro431Leu) was also reported in an Italian family. A reported ET risk variant Met392Ile in a Chinese population - set 1 odds ratio = 4.72 [95% confidence interval = 1.90-11.71], p = 0.0037). Validation set 2 (joint analysis odds ratio = 3.92 [95% confidence interval = 1.57-9.82], p = 8.6 × 10(-4). This variant has been classified as LB in ClinVar. \r\nSources: Literature",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:08:52.845705+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FUS: Changed publications: 22863194, 23834483, 23825177, 38626532",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T16:07:59.824214+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FUS were set to 22863194",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:56:11.536475+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FUS as ready",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:56:11.524480+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fus has been classified as Red List (Low Evidence).",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:54:17.787407+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FUS was added\ngene: FUS was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FUS were set to 22863194\nPhenotypes for gene: FUS were set to tremor, hereditary essential, 4\tMONDO:0013888\nReview for gene: FUS was set to RED\nAdded comment: A single family reported p.Gln290* segregating (incomplete penetrance) with essential tremor, also two missense variants reported in 2 probands which are too common in gnomAD and have been classified as LB in ClinVar. A reported ET risk variant Met392Ile in a Chinese population - set 1 odds ratio = 4.72 [95% confidence interval = 1.90-11.71], p = 0.0037). Validation set 2 (joint analysis odds ratio = 3.92 [95% confidence interval = 1.57-9.82], p = 8.6 × 10(-4). This variant has been classified as LB in ClinVar. \nSources: Literature",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:45:18.593310+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MAPT as ready",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:45:18.584362+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mapt has been classified as Green List (High Evidence).",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:19:26.357929+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MAPT were changed from to late-onset Parkinson disease MONDO:0008199",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:18:15.821583+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAPT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:16:55.315193+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAPT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:15:14.990563+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FUS as ready",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:15:14.981097+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fus has been classified as Green List (High Evidence).",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:14:23.622259+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030)",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:14:10.467016+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MAPT were set to ",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:12:43.598513+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FUS were set to ",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:11:58.259664+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:10:30.389544+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:10:30.379994+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:00:49.744878+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VCP as Green List (high evidence)",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:00:49.733897+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:00:34.806904+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: THAP1 as ready",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2024-04-20T15:00:34.789536+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: thap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:59:48.198906+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VCP was added\ngene: VCP was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VCP were set to 38283104; 38145206\nPhenotypes for gene: VCP were set to Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507\nMode of pathogenicity for gene: VCP was set to Other\nReview for gene: VCP was set to GREEN\ngene: VCP was marked as current diagnostic\nAdded comment: Parkinsonism is a rare feature of VCP-related multisystem proteinopathy, but has been reported in at least 15 individuals with VCP variants. \nSources: Literature",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:53:24.367207+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LYST as ready",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:53:24.349747+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:52:56.951936+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LYST were set to ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:50:25.208657+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: THAP1 as Amber List (moderate evidence)",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:50:25.196012+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: thap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:44:10.576345+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DDHD1 as ready",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:44:10.565833+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddhd1 has been classified as Red List (Low Evidence).",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:43:49.385513+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DDHD1 as Red List (low evidence)",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:43:49.380966+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only single case reported with iron accumulation",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:43:49.343762+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddhd1 has been classified as Red List (Low Evidence).",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:41:45.576274+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome MONDO:0008963",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:40:12.620091+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:32:34.300058+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SQSTM1 as ready",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:32:34.291766+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Red List (Low Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:32:26.442846+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SQSTM1 as Red List (low evidence)",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:32:26.437850+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only single family reported with iron accumulation",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:32:26.394807+10:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Red List (Low Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:25:36.194201+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LYST as Green List (high evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:25:36.189167+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Parkinsonism is a feature of the condition",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2024-04-20T14:25:36.139610+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2024-04-20T13:45:07.174888+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EPM2A were set to PMID: 27574708",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2024-04-20T13:08:55.625222+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: KIF5A were changed from to Spastic paraplegia 10, autosomal dominant MIM#604187",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-04-20T13:07:13.995101+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: KIF5A were set to ",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-04-20T13:05:23.115392+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-04-20T13:01:16.714228+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NHLRC1 were set to PMID: 22425593",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2024-04-19T22:08:09.370213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1715",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: KIAA1024L was added\ngene: KIAA1024L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIAA1024L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1024L were set to 35727972\nPhenotypes for gene: KIAA1024L were set to Deafness, autosomal recessive 120, OMIM:620238\nReview for gene: KIAA1024L was set to GREEN\nAdded comment: New gene name - MINAR2\r\n\r\nPMID:35727972 reported 13 patients from four unrelated families with non-syndromic sensorineural hearing loss. Four of these patients had prelingual onset of severe to profound, progressive bilateral hearing loss. The other nine patients had congenital onset of severe to profound bilateral hearing loss, which was not progressive on one patient, while data was not available for the other. \r\n\r\nThree different homozygous variants (c.144G > A/ p.Trp48Ter, c.412_419delCGGTTTTG/ p.Arg138Valfs*10 and c.393G > T/ p.Lys131Asn) were identified in MINAR2/ KIAA1024L gene in these patients.\r\n\r\nThere is some functional evidence available for the p.Lys131Asn variant. In addition, mice with loss of function of the Minar2 protein present with rapidly progressive sensorineural hearing loss.\r\n\r\nThis gene has also been associated with relevant phenotype in OMIM (MIM #620238). \nSources: Literature",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-19T18:27:35.839685+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-04-19T18:27:35.827867+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-04-19T18:27:31.466173+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNA as Green List (high evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-04-19T18:27:31.448263+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-04-19T18:27:22.325363+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Pulmonary Arterial Hypertension. Sources: Expert Review\nMode of inheritance for gene: FLNA 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: FLNA were set to 33143682\nPhenotypes for gene: FLNA were set to congenital emphysematous lung disease due to Filamin A loss-of-function variant, MONDO:0800135; Melnick-Needles syndrome, MIM#\t309350\nReview for gene: FLNA was set to GREEN\nAdded comment: Severe PAH can be a rare feature of FLNA-related disorders. \nSources: Expert Review",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:59:55.738968+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYLD as ready",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:59:55.731153+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyld has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:58:04.228056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYLD as Green List (high evidence)",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:58:04.215531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyld has been classified as Green List (High Evidence).",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:57:32.548956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYLD as Amber List (moderate evidence)",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:57:32.539304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyld has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:57:16.372805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: CYLD: DEFINITIVE by ClinGen for the cutaneous disorder, Brooke-Spiegler syndrome, 605041.\r\nLIMITED for FTD/ALS -- rated as Amber due to multiple affected individuals and experimental data.",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:56:02.294387+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYLD as ready",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:56:02.274044+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyld has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:53:28.573441+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SS18L1 as ready",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:53:28.564059+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ss18l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:53:23.654543+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SS18L1 as Amber List (moderate evidence)",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:53:23.645967+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ss18l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:52:54.977582+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SS18L1 was added\ngene: SS18L1 was added to Incidentalome. Sources: Expert Review\nMode of inheritance for gene: SS18L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SS18L1 were set to 25888396; 24360741; 23708140; 30976389\nPhenotypes for gene: SS18L1 were set to amyotrophic lateral sclerosis (MONDO:0004976)\nReview for gene: SS18L1 was set to AMBER\nAdded comment: ClinGen has curated as LIMITED:\r\n\r\n There are 5 variants (one nonsense, three missense, and one in-frame del) that have been reported in 5 probands in 3 publications (PMIDs: 23708140, 24360741, 31522742) that are included in this curation, one of which was not scored due to the patient harboring a variant in another ALS-causing gene and a high minor allele frequency in population databases. ALS-associated SS18L1 variants are suggested to dysregulate neuronal function by inhibiting dendrite outgrowth and microglial activation through a dominant-negative mechanism, however there is an absence of functional data from primary tissue of SS18L1 mutation carriers. This gene-disease relationship is also supported by experimental evidence (mouse models, expression, and protein interactions; PMIDs: 30976389, 14716005, 23708140). CREST knockout (Crest +/− ) and Q394X knock-in mice generated through CRISPR/Cas9 system displayed deficits in motor coordination and partially recapitulated ALS phenotypes (PMID: 30976389). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. \nSources: Expert Review",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:49:54.478064+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SS18L1 were changed from amyotrophic lateral sclerosis to amyotrophic lateral sclerosis (MONDO:0004976)",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:49:03.891426+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SS18L1 as Amber List (moderate evidence)",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:49:03.873387+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ss18l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:46:45.689998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MARS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:46:23.295528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MARS: Added comment: The mono-allelic gene-disease associations have LIMITED evidence.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2024-04-19T16:25:54.207570+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from capillary and lymphatic malformation to capillary malformation MONDO:0016231, PIK3R1-related",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-04-19T15:35:01.577956+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PIK3R1 were set to 29174369",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-04-19T15:34:48.675402+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PIK3R1 as Green List (high evidence)",
"entity_name": "PIK3R1",
"entity_type": "gene"
}
]
}