HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221277,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1933",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1931",
"results": [
{
"created": "2020-02-09T18:19:45.556461+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lnpk has been classified as Amber List (Moderate Evidence).",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:19:39.207286+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LNPK were set to ",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:19:22.403693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:18:37.176441+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LNPK as Amber List (moderate evidence)",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:18:37.171661+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lnpk has been classified as Amber List (Moderate Evidence).",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:17:44.794310+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:13:23.926056+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMBRD1 as ready",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:13:23.921065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:13:10.872723+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:12:35.955111+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMBRD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:11:57.969932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:03:56.033021+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPT2 as ready",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:03:56.027574+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:03:48.571405+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIPT2 as Amber List (moderate evidence)",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:03:48.566711+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:02:57.751854+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPT2 was added\ngene: LIPT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIPT2 were set to 28757203\nPhenotypes for gene: LIPT2 were set to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668\nReview for gene: LIPT2 was set to AMBER\nAdded comment: Three individuals from two unrelated families; profound ID. \nSources: Expert list",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:42:54.938584+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAS1L as ready",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:42:54.933340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: las1l has been classified as Green List (High Evidence).",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:42:14.871863+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:41:24.129521+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAS1L were set to ",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:20:53.387452+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAS1L: Rating: ; Mode of pathogenicity: None; Publications: 25644381, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: None",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:03:39.773058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF4A as ready",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:03:39.768184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Red List (Low Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:03:30.792893+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF4A as ready",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:03:30.788072+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Red List (Low Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:03:14.537496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF4A were changed from to Mental retardation, X-linked 100, MIM# 300923",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:02:55.727334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF4A were set to ",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:02:50.596772+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF4A were changed from to Mental retardation, X-linked 100, MIM# 300923",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:02:36.127390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF4A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:02:09.927909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF4A as Red List (low evidence)",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:02:09.923080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Red List (Low Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:02:01.304420+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF4A were set to ",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:01:47.024634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: None; Publications: 24812067; Phenotypes: Mental retardation, X-linked 100, MIM# 300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:01:32.966142+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF4A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:00:33.567077+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF4A as Red List (low evidence)",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T21:00:33.562153+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Red List (Low Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:59:49.849998+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: None; Publications: 24812067; Phenotypes: Mental retardation, X-linked 100, MIM# 300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:54:34.768654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF2A as Green List (high evidence)",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:54:34.763687+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif2a has been classified as Green List (High Evidence).",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:54:19.893547+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF2A as ready",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:54:19.883626+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif2a has been classified as Green List (High Evidence).",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:54:05.871395+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF2A as Green List (high evidence)",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:54:05.866311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif2a has been classified as Green List (High Evidence).",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:53:02.982279+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF2A was added\ngene: KIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282\nPhenotypes for gene: KIF2A were set to Cortical dysplasia, complex, with other brain malformations 3, 615411\nReview for gene: KIF2A was set to GREEN\ngene: KIF2A was marked as current diagnostic\nAdded comment: Five unrelated individuals reported. \nSources: Expert list",
"entity_name": "KIF2A",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:52:54.434568+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK4 as ready",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:52:54.427608+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk4 has been classified as Green List (High Evidence).",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:39:23.871408+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNT2 as ready",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:39:23.865764+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt2 has been classified as Green List (High Evidence).",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:39:11.197234+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNT2 as Green List (high evidence)",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:39:11.192305+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt2 has been classified as Green List (High Evidence).",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:38:14.104158+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNT2 was added\ngene: KCNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNT2 were set to 29069600; 29740868\nPhenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile 57, 617771\nMode of pathogenicity for gene: KCNT2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: KCNT2 was set to GREEN\ngene: KCNT2 was marked as current diagnostic\nAdded comment: Three unrelated individuals reported. \nSources: Expert list",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:32:49.711922+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNK4 were changed from to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:31:02.458161+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK4 were set to ",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:23:49.145871+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNK4 was changed from to Other",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:23:23.820434+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:22:37.701271+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:21:53.271185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK4 as ready",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:21:53.259961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk4 has been classified as Green List (High Evidence).",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:21:38.969444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNK4 were changed from to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:21:23.419419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK4 were set to ",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:21:08.149792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNK4 was changed from to Other",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:20:52.611513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:20:32.986960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK4 as ready",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:20:32.981595+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk4 has been classified as Green List (High Evidence).",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:20:19.270630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:20:13.406062+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNK4 as Green List (high evidence)",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:20:13.387960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk4 has been classified as Green List (High Evidence).",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:18:58.751038+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNK4 was added\ngene: KCNK4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNK4 were set to 30290154\nPhenotypes for gene: KCNK4 were set to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome\t618381\nMode of pathogenicity for gene: KCNK4 was set to Other\nReview for gene: KCNK4 was set to GREEN\nAdded comment: Three unrelated individuals reported with a distinctive syndromic ID condition and de novo variants (two of the individuals had the same variant). Likely GoF as KO mice do not share the phenotype. \nSources: Expert list",
"entity_name": "KCNK4",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:04:11.397724+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNAL2 were changed from Autism to Autism",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:03:44.593743+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNAL2 were changed from Autism to Autism",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:03:30.459804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNAL2 as ready",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:03:30.453412+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnal2 has been classified as Red List (Low Evidence).",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:03:18.765759+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNAL2 were changed from to Autism",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:03:03.670062+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNAL2 as ready",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:03:03.659396+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnal2 has been classified as Green List (High Evidence).",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:02:51.275680+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNAL2 were changed from Autism to Autism",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:02:51.198781+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KATNAL2 were set to 22495311; 21572417; 22495309; 22495306",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:01:43.476918+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNAL2 were changed from to Autism",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:01:43.258811+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KATNAL2 were set to ",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:00:32.302089+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KATNAL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T20:00:25.552291+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KATNAL2 were set to ",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T19:59:32.144135+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KATNAL2 as Red List (low evidence)",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T19:59:32.139541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnal2 has been classified as Red List (Low Evidence).",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T19:59:16.706377+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KATNAL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T19:58:38.632726+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KATNAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22495311, 21572417, 22495309, 22495306; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T19:57:40.765213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KATNAL2: Rating: RED; Mode of pathogenicity: None; Publications: 22495311, 21572417, 22495309, 22495306; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:44:07.901236+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA7 as ready",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:44:07.895868+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:43:53.925500+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGA7 were set to ",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:43:05.607640+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:42:30.691357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:41:07.847993+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITGA7 as Amber List (moderate evidence)",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:41:07.843003+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:40:28.450009+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:32:52.518002+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISCA2 as ready",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:32:52.512758+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: isca2 has been classified as Green List (High Evidence).",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:32:33.604142+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:32:00.298031+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ISCA2 were set to ",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:31:29.634183+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2020-02-08T18:30:44.366623+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 31279336, 31106229; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISCA2",
"entity_type": "gene"
}
]
}