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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1890",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1888",
"results": [
{
"created": "2020-03-31T20:07:56.135579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DRP2 as Green List (high evidence)",
"entity_name": "DRP2",
"entity_type": "gene"
},
{
"created": "2020-03-31T20:07:56.127009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: drp2 has been classified as Green List (High Evidence).",
"entity_name": "DRP2",
"entity_type": "gene"
},
{
"created": "2020-03-31T20:07:38.700864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DRP2 was added\ngene: DRP2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DRP2 were set to 26227883; 11430802; 31217940; 22764250; 29473052\nPhenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN\nReview for gene: DRP2 was set to GREEN\nAdded comment: Three unrelated families, functional data. \nSources: Expert list",
"entity_name": "DRP2",
"entity_type": "gene"
},
{
"created": "2020-03-31T19:47:01.026546+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-03-31T19:24:58.726511+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KIF5A as Green List (high evidence)",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-31T19:24:58.717702+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Green List (High Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-31T19:24:27.780480+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF5A was added\ngene: KIF5A was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5A were set to 29342275; 30301576; 29566793\nPhenotypes for gene: KIF5A were set to {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921\nReview for gene: KIF5A was set to GREEN\nAdded comment: 12 patients from 9 unrelated families with ALS, had heterozygous LOF variants in the C-terminal region cargo-binding region. Variants causing SPG10 are almost exclusively missense mutations that affect the N-terminal motor domain. \nSources: Expert list",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-31T19:11:03.261874+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNE were set to 29086072\nPhenotypes for gene: GNE were set to Amyotrophic lateral sclerosis\nReview for gene: GNE was set to RED\nAdded comment: Single family reported with ALS \nSources: Expert list",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-03-31T19:07:51.926092+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GLT8D1 as Green List (high evidence)",
"entity_name": "GLT8D1",
"entity_type": "gene"
},
{
"created": "2020-03-31T19:07:51.916702+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: glt8d1 has been classified as Green List (High Evidence).",
"entity_name": "GLT8D1",
"entity_type": "gene"
},
{
"created": "2020-03-31T19:07:08.287114+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GLT8D1 was added\ngene: GLT8D1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: GLT8D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLT8D1 were set to 30811981\nPhenotypes for gene: GLT8D1 were set to Amyotrophic lateral sclerosis\nReview for gene: GLT8D1 was set to GREEN\nAdded comment: 14 ALS cases with heterozygous missense (10 cases with p.R92C), and supporting in vitro functional assays and zebrafish model. \nSources: Expert list",
"entity_name": "GLT8D1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:59:45.267323+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGUOK as ready",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:59:45.254330+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Green List (High Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:59:41.800779+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DGUOK as Green List (high evidence)",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:59:41.791448+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Green List (High Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:59:34.187629+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy\nReview for gene: DGUOK was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:58:26.006882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGAT2 as ready",
"entity_name": "DGAT2",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:58:25.998023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgat2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DGAT2",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:58:17.276176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DGAT2 as Amber List (moderate evidence)",
"entity_name": "DGAT2",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:58:17.262868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgat2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DGAT2",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:57:58.841306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGAT2 was added\ngene: DGAT2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DGAT2 were set to 26786738\nPhenotypes for gene: DGAT2 were set to axonal Charcot-Marie-Tooth disease\nReview for gene: DGAT2 was set to AMBER\nAdded comment: Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model. \nSources: Expert Review",
"entity_name": "DGAT2",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:50:40.846535+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DAO was added\ngene: DAO was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: DAO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAO were set to 29274788; 29895397; 20368421; 29194436\nPhenotypes for gene: DAO were set to Amyotrophic Lateral Sclerosis\nReview for gene: DAO was set to RED\nAdded comment: Many mouse models, but reported variant in a case is R199W, which has gnomAD AF higher than expected for a dominant ALS gene. No compelling evidence in human cases. \nSources: Expert list",
"entity_name": "DAO",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:48:00.789124+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EWSR1 as Amber List (moderate evidence)",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:48:00.775822+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ewsr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:47:20.548193+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EWSR1 was added\ngene: EWSR1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: EWSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EWSR1 were set to 29731676; 22454397\nPhenotypes for gene: EWSR1 were set to Amyotrophic lateral sclerosis\nReview for gene: EWSR1 was set to AMBER\nAdded comment: Mouse model and 2 missense reported in 2 ALS cases, but no other reports in ALS cases since 2012 \nSources: Expert list",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:43:27.210518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1873",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERLIN1 as Green List (high evidence)",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:43:27.196939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1873",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erlin1 has been classified as Green List (High Evidence).",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:41:08.491404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1872",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERLIN1 was added\ngene: ERLIN1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERLIN1 were set to 24482476\nPhenotypes for gene: ERLIN1 were set to Spastic paraplegia 62 MIM#615681\nReview for gene: ERLIN1 was set to GREEN\nAdded comment: Three unrelated consanguineous families with early onset pure HSP. \nSources: Expert list",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:38:22.560781+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERLIN1 was added\ngene: ERLIN1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERLIN1 were set to 29453415\nPhenotypes for gene: ERLIN1 were set to Amyotrophic lateral sclerosis\nReview for gene: ERLIN1 was set to RED\nAdded comment: Homozygous varinat segregates with ALS in a single family \nSources: Expert list",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:37:55.054232+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPOX as ready",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:37:55.041034+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpox has been classified as Green List (High Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:37:51.624774+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPOX as Green List (high evidence)",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:37:51.616246+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpox has been classified as Green List (High Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:37:43.134674+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPOX was added\ngene: CPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CPOX were set to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300\nReview for gene: CPOX was set to GREEN\nAdded comment: Acute intermittent porphyria-like phenotype, including neuropathy. \nSources: NHS GMS",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:33:51.696324+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD59 as ready",
"entity_name": "CD59",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:33:51.687541+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd59 has been classified as Green List (High Evidence).",
"entity_name": "CD59",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:33:46.074497+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD59 as Green List (high evidence)",
"entity_name": "CD59",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:33:46.066023+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd59 has been classified as Green List (High Evidence).",
"entity_name": "CD59",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:33:38.370707+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD59 was added\ngene: CD59 was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD59 were set to 24382084; 23149847\nPhenotypes for gene: CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy\t612300\nReview for gene: CD59 was set to GREEN\nAdded comment: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. \nSources: NHS GMS",
"entity_name": "CD59",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:30:58.566889+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHB as ready",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:30:58.558355+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Green List (High Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:30:55.032318+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCKDHB as Green List (high evidence)",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:30:55.023727+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Green List (High Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:30:46.097498+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy\nReview for gene: BCKDHB was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:21:17.467735+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERBB4 as ready",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:21:17.454356+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erbb4 has been classified as Green List (High Evidence).",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:21:12.881313+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERBB4 as Green List (high evidence)",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:21:12.872269+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erbb4 has been classified as Green List (High Evidence).",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:20:44.287361+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERBB4 was added\ngene: ERBB4 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERBB4 were set to 24119685; 28889094\nPhenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19 MIM#615515\nReview for gene: ERBB4 was set to GREEN\nAdded comment: At least 4 cases with ALS \nSources: Expert list",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:07:33.118410+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOA1 as ready",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:07:33.109842+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoa1 has been classified as Green List (High Evidence).",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:07:29.064013+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOA1 as Green List (high evidence)",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:07:29.050730+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoa1 has been classified as Green List (High Evidence).",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2020-03-31T18:07:20.882272+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOA1 was added\ngene: APOA1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types\t105200; Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy\nReview for gene: APOA1 was set to GREEN\nAdded comment: Neuropathy is a predominant feature, particularly of the Iowa type, associated with p.Gly26Arg \nSources: NHS GMS",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2020-03-31T17:01:42.472065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTBD7 as ready",
"entity_name": "BTBD7",
"entity_type": "gene"
},
{
"created": "2020-03-31T17:01:42.467967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agreed, no evidence currently for Mendelian gene-disease association.",
"entity_name": "BTBD7",
"entity_type": "gene"
},
{
"created": "2020-03-31T17:01:42.438042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btbd7 has been classified as Red List (Low Evidence).",
"entity_name": "BTBD7",
"entity_type": "gene"
},
{
"created": "2020-03-31T17:01:31.255729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BTBD7 as Red List (low evidence)",
"entity_name": "BTBD7",
"entity_type": "gene"
},
{
"created": "2020-03-31T17:01:31.242057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btbd7 has been classified as Red List (Low Evidence).",
"entity_name": "BTBD7",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:59:53.340301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOS1AP as ready",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:59:53.334191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agreed, cannot find evidence for Mendelian gene-disease association.",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:59:53.288046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos1ap has been classified as Red List (Low Evidence).",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:59:45.777181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOS1AP as Red List (low evidence)",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:59:45.768274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos1ap has been classified as Red List (Low Evidence).",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:56:04.166408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID2 as ready",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:56:04.153105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid2 has been classified as Green List (High Evidence).",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:55:56.982113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID2 were changed from to Coffin-Siris syndrome 6, MIM#617808",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:55:41.347658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARID2 were set to 30838730",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:54:53.162393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARID2 were set to ",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:54:39.187000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARID2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:54:04.611260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC1H1 as ready",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:54:04.598020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:53:58.102437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1H1 were changed from to Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity-predominant 1",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:53:43.355591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC1H1 were set to ",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:52:26.086578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DYNC1H1 was changed from to Other",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:52:04.710481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:48:45.796307+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PQBP1 as ready",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:48:45.783306+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqbp1 has been classified as Green List (High Evidence).",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:48:23.971496+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM#309500",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:47:56.195572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PQBP1 were set to ",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:47:29.526504+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:46:57.382443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31840929, 14634649, 20410308; Phenotypes: Renpenning syndrome, MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:45:32.651475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PQBP1 as ready",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:45:32.643097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqbp1 has been classified as Green List (High Evidence).",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:45:25.947655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM#309500",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:44:49.138704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PQBP1 were set to ",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:44:22.465965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PQBP1 was changed from to Other",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:43:59.230961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:41:43.073981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD3 as ready",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:41:43.067807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Over 30 unrelated individuals reported.",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:41:43.002339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Green List (High Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:41:34.422397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD3 were changed from to Snijders Blok-Campeau syndrome (618205)",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:41:20.885578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD3 were set to ",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:41:05.982597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CHD3 was changed from to Other",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:40:19.695430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:39:11.299343+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22335739; Phenotypes: Cardiomyopathy, dilated, 1G, MIM#604145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:37:05.604081+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTN as ready",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:37:05.589592+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttn has been classified as Green List (High Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:37:01.033478+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTN were set to ",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-03-31T16:35:22.377988+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, MIM#604145",
"entity_name": "TTN",
"entity_type": "gene"
}
]
}