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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2067",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2065",
"results": [
{
"created": "2019-12-06T14:09:17.681939+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYRM7 as ready",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2019-12-06T14:09:17.674267+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyrm7 has been classified as Green List (High Evidence).",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2019-12-06T14:09:13.076329+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2019-12-06T14:08:58.532862+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2019-12-06T14:08:44.914315+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:44:33.110822+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNB1 as ready",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:44:33.103354+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb1 has been classified as Red List (Low Evidence).",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:44:21.361266+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB1 were changed from to Leukodystrophy, adult-onset, autosomal dominant, MIM#169500",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:44:08.804601+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:43:51.447100+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNB1 as Red List (low evidence)",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:43:51.440000+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb1 has been classified as Red List (Low Evidence).",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:42:20.974591+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, MIM#169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:40:54.695548+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:40:54.688423+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Red List (Low Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:40:48.862188+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNA as Red List (low evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:40:48.851752+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Red List (Low Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:40:36.964669+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:36:05.188859+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPT1 as ready",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:36:05.181235+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipt1 has been classified as Green List (High Evidence).",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:36:00.823390+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:35:47.293017+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIPT1 were set to ",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:35:34.292232+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:35:21.119342+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 24256811, 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:30:17.604358+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINGO1 as Amber List (moderate evidence)",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:30:17.597232+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:29:50.299605+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LINGO1 as ready",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:29:50.291540+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Green List (High Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:29:44.095431+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINGO1 as Green List (high evidence)",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:29:44.088394+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Green List (High Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:29:25.094513+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LINGO1 was added\ngene: LINGO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LINGO1 were set to 28837161\nPhenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64, MIM#618103\nReview for gene: LINGO1 was set to GREEN\nAdded comment: Five individuals from two unrelated families, no functional evidence. \nSources: Expert list",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:15:00.552356+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIAS as ready",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:15:00.541466+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lias has been classified as Green List (High Evidence).",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:14:55.945035+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM#614462",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:14:41.481774+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIAS were set to ",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:14:29.600111+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:14:13.627374+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334290, 22152680; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:11:18.973687+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LGI4 as ready",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:11:18.966481+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi4 has been classified as Red List (Low Evidence).",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:11:12.838437+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:11:01.086641+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:09:51.519681+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LGI4 as Red List (low evidence)",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:09:51.512131+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi4 has been classified as Red List (Low Evidence).",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2019-12-06T13:09:38.700318+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LGI4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:58:19.471056+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LBR as ready",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:58:19.463838+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbr has been classified as Red List (Low Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:58:10.986031+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM#215140; 3 Pelger-Huet anomaly, MIM#169400",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:57:53.010662+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LBR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:57:45.660098+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LBR as Red List (low evidence)",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:57:45.651782+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbr has been classified as Red List (Low Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:57:28.858430+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LBR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Greenberg skeletal dysplasia, MIM#215140, 3 Pelger-Huet anomaly, MIM#169400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:43:33.839887+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KYNU: Changed phenotypes: Hydroxykynureninuria, MIM#236800, Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:41:53.884184+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KYNU as ready",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:41:53.876955+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Red List (Low Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:41:36.556422+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KYNU were changed from to Hydroxykynureninuria, MIM#236800",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:41:20.650284+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KYNU were set to ",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:41:04.803130+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KYNU as Red List (low evidence)",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:41:04.795444+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Red List (Low Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:40:44.787913+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KYNU: Rating: RED; Mode of pathogenicity: None; Publications: 28792876, 17334708; Phenotypes: Hydroxykynureninuria, MIM#236800; Mode of inheritance: None",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:23:40.647104+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT5B as ready",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:23:40.639944+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt5b has been classified as Green List (High Evidence).",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:23:33.950340+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT5B as Green List (high evidence)",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:23:33.943594+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt5b has been classified as Green List (High Evidence).",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:23:15.854401+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT5B was added\ngene: KMT5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT5B were set to 25363768; 28191889; 29276005\nPhenotypes for gene: KMT5B were set to Mental retardation, autosomal dominant 51, MIM#617788\nReview for gene: KMT5B was set to GREEN\nAdded comment: Multiple affected individuals from unrelated families. \nSources: Expert list",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:09:10.334356+11:00",
"panel_name": "Cancer Predisposition_Paediatric_VCGS",
"panel_id": 152,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHEK2 as ready",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:09:10.327305+11:00",
"panel_name": "Cancer Predisposition_Paediatric_VCGS",
"panel_id": 152,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chek2 has been classified as Green List (High Evidence).",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:09:05.160288+11:00",
"panel_name": "Cancer Predisposition_Paediatric_VCGS",
"panel_id": 152,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHEK2 as Green List (high evidence)",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:09:05.152735+11:00",
"panel_name": "Cancer Predisposition_Paediatric_VCGS",
"panel_id": 152,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chek2 has been classified as Green List (High Evidence).",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:08:20.215366+11:00",
"panel_name": "Cancer Predisposition_Paediatric_VCGS",
"panel_id": 152,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHEK2 was added\ngene: CHEK2 was added to Cancer Predisposition_Paediatric_VCGS. Sources: Expert Review\nMode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHEK2 were set to 10617473\nPhenotypes for gene: CHEK2 were set to Li-Fraumeni syndrome, MIM#609265\nReview for gene: CHEK2 was set to GREEN\nAdded comment: Affected individuals from three unrelated families reported originally. \nSources: Expert Review",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:04:12.286111+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHEK2 as ready",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:04:12.282898+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Decision to add to Incidentalome by Genomics MDT 6/12/19.",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:04:12.264476+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chek2 has been classified as Green List (High Evidence).",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:03:41.828525+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHEK2 as Green List (high evidence)",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:03:41.815093+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chek2 has been classified as Green List (High Evidence).",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T12:03:11.202841+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHEK2 was added\ngene: CHEK2 was added to Incidentalome_VCGS. Sources: Other\nMode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHEK2 were set to Breast cancer\nReview for gene: CHEK2 was set to GREEN\nAdded comment: Sources: Other",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:55:50.917709+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2B as ready",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:55:50.910172+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2b has been classified as Green List (High Evidence).",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:55:44.305687+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from to Dystonia 28, childhood-onset, MIM#617284",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:55:29.769912+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:55:15.598065+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset, MIM#617284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:53:19.244607+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLLN were set to ",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:53:06.711150+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLLN as Red List (low evidence)",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:53:06.702898+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klln has been classified as Red List (Low Evidence).",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:52:54.517838+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLLN: Rating: RED; Mode of pathogenicity: None; Publications: 21177507; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:48:59.923645+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF8 as ready",
"entity_name": "KLF8",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:48:59.915158+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf8 has been classified as Red List (Low Evidence).",
"entity_name": "KLF8",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:48:52.505082+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF8 were set to ",
"entity_name": "KLF8",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:48:42.931472+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLF8 as Red List (low evidence)",
"entity_name": "KLF8",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:48:42.920593+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf8 has been classified as Red List (Low Evidence).",
"entity_name": "KLF8",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:47:45.297114+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: None; Publications: 11836360; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KLF8",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:10:11.828981+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF7 as ready",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:10:11.820756+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf7 has been classified as Green List (High Evidence).",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:10:03.195588+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLF7 as Green List (high evidence)",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:10:03.187504+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf7 has been classified as Green List (High Evidence).",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T10:09:44.921232+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLF7 was added\ngene: KLF7 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLF7 were set to 29251763\nPhenotypes for gene: KLF7 were set to Intellectual disability\nReview for gene: KLF7 was set to GREEN\nAdded comment: Four unrelated individuals with de novo missense variants; animal model data supportive. \nSources: Literature",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:30:51.238566+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF7 were changed from to Intellectual disability",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:30:42.764881+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF7 were set to ",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:30:28.189320+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:30:09.727504+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29251763; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:18:36.151916+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIRREL3 as ready",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:18:36.144261+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kirrel3 has been classified as Red List (Low Evidence).",
"entity_name": "KIRREL3",
"entity_type": "gene"
}
]
}