HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1867",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1865",
"results": [
{
"created": "2020-04-12T18:04:09.806160+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS22 as ready",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2020-04-12T18:04:09.797761+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps22 has been classified as Green List (High Evidence).",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2020-04-12T18:03:46.567734+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5, MIM# 611719",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2020-04-12T18:03:18.782255+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS22 were set to ",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2020-04-12T18:02:49.305845+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2020-04-12T18:02:20.508355+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5, MIM# 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2020-04-12T18:01:08.498657+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS2 as ready",
"entity_name": "MRPS2",
"entity_type": "gene"
},
{
"created": "2020-04-12T18:01:08.485520+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps2 has been classified as Green List (High Evidence).",
"entity_name": "MRPS2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:59:09.113723+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950",
"entity_name": "MRPS2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:58:39.421633+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS2 were set to ",
"entity_name": "MRPS2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:58:10.574831+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:57:40.076073+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:54:04.396690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIEF2 was added\ngene: MIEF2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIEF2 were set to 29361167\nPhenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency\nReview for gene: MIEF2 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list",
"entity_name": "MIEF2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:52:33.199866+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIEF2 as ready",
"entity_name": "MIEF2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:52:33.190545+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mief2 has been classified as Red List (Low Evidence).",
"entity_name": "MIEF2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:52:24.429296+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIEF2 was added\ngene: MIEF2 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIEF2 were set to 29361167\nPhenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency\nReview for gene: MIEF2 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list",
"entity_name": "MIEF2",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:43:46.170244+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HAAO: Changed rating: GREEN; Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:38:47.299610+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC3 as ready",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:38:47.290925+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:38:43.199476+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC3 as Amber List (moderate evidence)",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:38:43.186302+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:38:14.207955+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC3 was added\ngene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC3 were set to 28687512\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B\t614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction\nReview for gene: EXOSC3 was set to AMBER\nAdded comment: Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex. \nSources: Expert list",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:26:48.167727+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERAL1 as ready",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:26:48.157708+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eral1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:26:44.181411+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERAL1 as Amber List (moderate evidence)",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:26:44.167641+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eral1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:26:14.418542+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERAL1 was added\ngene: ERAL1 was added to Deafness. Sources: Expert list\nMode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERAL1 were set to 28449065\nPhenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM#\t617565\nReview for gene: ERAL1 was set to AMBER\nAdded comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data. \nSources: Expert list",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:24:38.374479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERAL1 as ready",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:24:38.361479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eral1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:24:28.450990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERAL1 as Amber List (moderate evidence)",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:24:28.442023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eral1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:24:08.844017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERAL1 was added\ngene: ERAL1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERAL1 were set to 28449065\nPhenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM#\t617565\nReview for gene: ERAL1 was set to AMBER\nAdded comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data. \nSources: Expert list",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:22:40.198711+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERAL1 as ready",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:22:40.185184+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eral1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:22:34.463332+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERAL1 as Amber List (moderate evidence)",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:22:34.454728+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eral1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:22:06.309445+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERAL1 was added\ngene: ERAL1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERAL1 were set to 28449065\nPhenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM#\t617565\nReview for gene: ERAL1 was set to AMBER\nAdded comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data. \nSources: Expert list",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:16:53.870586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX5A as ready",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:16:53.857204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox5a has been classified as Red List (Low Evidence).",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:16:40.021116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX5A was added\ngene: COX5A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX5A were set to 2824752\nPhenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency\nReview for gene: COX5A was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-04-12T17:12:43.436045+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX4I1: Rating: RED; Mode of pathogenicity: None; Publications: 28766551, 22592081; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:54:13.498766+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKB as ready",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:54:13.489795+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chkb has been classified as Green List (High Evidence).",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:54:10.608209+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHKB as Green List (high evidence)",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:54:10.593978+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chkb has been classified as Green List (High Evidence).",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:53:41.181724+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHKB was added\ngene: CHKB was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHKB were set to 21665002; 23692895; 24997086\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM#\t602541; Intellectual disability; Abnormal mitochondria\nReview for gene: CHKB was set to GREEN\nAdded comment: Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy. \nSources: Expert list",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:49:21.327721+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QBP as ready",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:49:21.314370+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:45:40.909900+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:44:52.005116+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QBP were set to ",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:44:23.296517+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:43:50.900085+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:17:07.347097+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:16:57.403955+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS4 as ready",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:16:57.391081+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:16:41.881281+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:15:39.077147+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:15:15.974743+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS4 were set to ",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2020-04-12T16:13:42.258668+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:51:11.026558+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:49:16.514469+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals reported with GoF variants, most commonly E1021K.; to: Multiple individuals reported with GoF variants, most commonly E1021K. Note recent reports of bi-allelic variants causing disease: severe bacterial infections, and increased chance of autoimmunity.",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:48:43.093103+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIK3CD: Changed publications: 24136356, 30018075, 24165795, 31073077; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:35:27.463918+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:33:45.494010+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:23:34.461146+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3IP2 as ready",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:23:34.448017+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:19:19.096160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3IP2 as ready",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:19:19.087372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:19:06.628686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:18:51.658358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP2 were set to ",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:18:37.334557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:18:22.463945+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:18:19.279681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAF3IP2 as Amber List (moderate evidence)",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:18:19.270770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:17:57.468996+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP2 were set to ",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:17:55.702821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:17:34.140146+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:16:59.943054+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAF3IP2 as Amber List (moderate evidence)",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:16:59.934539+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:16:29.549556+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:08:52.922705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3 as ready",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:08:52.914378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3 has been classified as Red List (Low Evidence).",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:08:44.708256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:08:30.438024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3 were set to ",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:07:53.059180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:07:35.183272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAF3 as Red List (low evidence)",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:07:35.174596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3 has been classified as Red List (Low Evidence).",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:07:15.464826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:06:30.282117+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3 as ready",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:06:30.267964+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3 has been classified as Red List (Low Evidence).",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:06:27.206931+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:06:04.486387+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3 were set to ",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:05:35.421809+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:05:07.616238+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAF3 as Red List (low evidence)",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:05:07.607890+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3 has been classified as Red List (Low Evidence).",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:04:31.080315+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:03:41.092888+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3 as ready",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T14:03:41.084262+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3 has been classified as Red List (Low Evidence).",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T13:59:56.895458+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-12T13:59:33.911741+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3 were set to ",
"entity_name": "TRAF3",
"entity_type": "gene"
}
]
}