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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1575",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1573",
"results": [
{
"created": "2020-09-25T11:58:00.369920+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"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": "2020-09-25T11:57:33.929198+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUS were set to ",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:57:06.625292+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"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": "2020-09-25T11:56:42.493740+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: None; Publications: 32941707, 32770214; Phenotypes: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:46:05.912453+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTL as ready",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:46:05.903053+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftl has been classified as Green List (High Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:46:02.834339+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTL were changed from to Neurodegeneration with brain iron accumulation 3, MIM# 606159",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:45:40.081744+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTL were set to ",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:45:11.321857+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:44:45.622039+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438811, 18854324, 15099026, 15173247; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM# 606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:35:12.906652+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FA2H as ready",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:35:12.893908+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Red List (Low Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:35:09.391709+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, MIM# 612319",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:34:44.810589+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:32:26.775599+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FA2H as Red List (low evidence)",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:32:26.765881+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Red List (Low Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:31:52.887753+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:28:44.640868+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCTN1 as ready",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:28:44.632643+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dctn1 has been classified as Green List (High Evidence).",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:28:42.305539+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCTN1 were changed from to Perry syndrome, MIM# 168605",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:28:16.640630+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCTN1 were set to ",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:27:48.791746+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:27:24.933464+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19136952; Phenotypes: Perry syndrome, MIM# 168605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:25:38.778226+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:25:38.768217+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:25:31.947691+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, MIM# 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:24:55.768245+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:24:31.324357+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:20:28.417978+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHCHD10 as ready",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:20:28.404646+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chchd10 has been classified as Green List (High Evidence).",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:20:24.305095+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHCHD10 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, MIM# 615911",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:19:54.269218+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHCHD10 were set to ",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:19:30.922405+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:18:58.792176+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934289, 31690696, 30877432, 32369233; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, MIM# 615911; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:59:52.268460+10:00",
"panel_name": "Neurodegenerative disease - adult onset",
"panel_id": 3374,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-25T10:46:11.356060+10:00",
"panel_name": "Neurodegenerative disease - adult onset",
"panel_id": 3374,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Neurology and neurodevelopmental disorders to Neurodegenerative disease - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-25T10:43:51.310268+10:00",
"panel_name": "Neurology and neurodevelopmental disorders",
"panel_id": 3374,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Neurology and neurodevelopmental disorders\nSet child panels to: Ataxia - adult onset; Early-onset Dementia; Early-onset Parkinson disease; Motor Neuron Disease; Hereditary Spastic Paraplegia - adult onset\nSet panel types to: Superpanel; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-25T10:34:15.911664+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:34:15.903646+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:34:13.467978+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM# 614298",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:33:47.283415+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:33:25.535343+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:32:57.127351+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23278385, 21981780, 23269600; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:29:19.799813+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:29:19.788773+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:29:16.592763+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from to Kufor-Rakeb syndrome, MIM# 606693",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:28:53.925592+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:28:26.879918+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:23:10.307915+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:23:10.299438+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:23:07.570504+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100, adult-onset",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:22:42.254193+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARSA were set to ",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:22:17.799731+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:21:08.205606+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29486463, 26890752, 15710861; Phenotypes: Metachromatic leukodystrophy, MIM# 250100, adult-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:12:21.494024+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOE as ready",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:12:21.484151+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoe has been classified as Green List (High Evidence).",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:11:03.939023+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOE were changed from to Alzheimer disease 2, MIM# 104310",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:10:36.242448+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:10:12.826990+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease 2, MIM# 104310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:07:37.706711+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS20 as ready",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:07:37.696824+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:07:33.915902+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS20 as Amber List (moderate evidence)",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:07:33.906031+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:07:07.211763+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS20 was added\ngene: RPS20 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS20 were set to 32790018\nPhenotypes for gene: RPS20 were set to Diamond Blackfan anaemia\nReview for gene: RPS20 was set to AMBER\nAdded comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype. \nSources: Literature",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:04:37.236479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMX1A as ready",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:04:37.227945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1a has been classified as Green List (High Evidence).",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:04:18.058476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1A were changed from to Deafness, autosomal dominant 7 MIM#601412; non-syndromic hearing loss",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:04:01.506412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMX1A were set to ",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:03:43.478397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMX1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T10:03:24.870719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29754270, 32840933, 29971487; Phenotypes: Deafness, autosomal dominant 7 MIM#601412, non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:52:38.332811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4569",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RPS20 as ready",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:52:38.319249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4569",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rps20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:52:28.451355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4569",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RPS20 as Amber List (moderate evidence)",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:52:28.440736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4569",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rps20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:52:08.386056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4568",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPS20 was added\ngene: RPS20 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS20 were set to 32790018\nPhenotypes for gene: RPS20 were set to Diamond Blackfan anaemia\nMode of pathogenicity for gene: RPS20 was set to Other\nReview for gene: RPS20 was set to AMBER\nAdded comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype. \nSources: Literature",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:50:17.049848+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RPS20 as ready",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:50:17.033467+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rps20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:48:56.511445+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RPS20 as Amber List (moderate evidence)",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:48:56.503001+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rps20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:48:00.256381+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPS20 was added\ngene: RPS20 was added to Diamond Blackfan anaemia. Sources: Literature\nMode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS20 were set to 32790018\nPhenotypes for gene: RPS20 were set to Diamond Blackfan anaemia\nMode of pathogenicity for gene: RPS20 was set to Other\nReview for gene: RPS20 was set to AMBER\nAdded comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype. \nSources: Literature",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:19:08.551866+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.398",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LMX1A were set to 29754270; 29971487",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:18:37.599661+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LMX1A as Green List (high evidence)",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:18:37.590468+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmx1a has been classified as Green List (High Evidence).",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-25T09:15:44.460230+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.396",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LMX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29754270, 32840933, 29971487; Phenotypes: Deafness, autosomal dominant 7 MIM#601412, non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:42:40.590881+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ACTG1 was changed from to Other",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:42:16.717744+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:42:16.706727+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:42:13.558380+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG1 were changed from to Deafness, autosomal dominant 20/26, MIM# 604717",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:41:44.894739+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTG1 were set to ",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:41:14.515281+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:40:49.975322+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 13680526, 14684684, 16773128, 19477959, 19497859; Phenotypes: Deafness, autosomal dominant 20/26, MIM# 604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:31:56.083366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABHD12 were set to ",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:31:35.768122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:30:06.916987+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD12 as ready",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:30:06.905528+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Green List (High Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:30:04.308327+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD12 were changed from to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:29:41.004848+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABHD12 were set to ",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:29:14.595887+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABHD12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:28:45.150604+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-09-24T21:24:48.677730+10:00",
"panel_name": "Alagille syndrome",
"panel_id": 36,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
}
]
}