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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1949",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1947",
"results": [
{
"created": "2020-02-01T16:05:09.447347+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn3 has been classified as Red List (Low Evidence).",
"entity_name": "CNTN3",
"entity_type": "gene"
},
{
"created": "2020-02-01T16:04:28.234041+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTN3",
"entity_type": "gene"
},
{
"created": "2020-02-01T16:01:23.110344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-02-01T16:01:23.099708+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Red List (Low Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-02-01T16:01:09.843087+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-02-01T15:58:03.975921+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to ",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-02-01T15:57:31.227716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-02-01T15:56:49.840365+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLPP as Red List (low evidence)",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-02-01T15:56:49.829795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Red List (Low Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-02-01T15:56:11.794835+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 23541340; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-02-01T15:33:42.258915+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA4 as ready",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2020-02-01T15:33:42.248360+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna4 has been classified as Red List (Low Evidence).",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2020-02-01T15:33:26.317014+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA4 were set to ",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:58:40.289679+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:57:09.458739+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:56:24.551646+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNA4 as Red List (low evidence)",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:56:24.541281+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna4 has been classified as Red List (Low Evidence).",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:55:45.069623+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNA4: Rating: RED; Mode of pathogenicity: None; Publications: 14623738; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:46:41.793502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD1: Added comment: Possible dominant negative mechanism: reported variants are missense, an individual with a deletion did not have a neurological phenotype.; Changed mode of pathogenicity: Other",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:41:46.908738+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP104 as ready",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:41:46.898536+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep104 has been classified as Green List (High Evidence).",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:41:35.615244+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP104 as Green List (high evidence)",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:41:35.605056+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep104 has been classified as Green List (High Evidence).",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:40:59.345715+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP104 was added\ngene: CEP104 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list\nMode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP104 were set to 26477546\nPhenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781\nReview for gene: CEP104 was set to GREEN\nAdded comment: Three unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:40:22.679048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP104 as ready",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:40:22.668415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep104 has been classified as Green List (High Evidence).",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:39:44.882221+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP104 as Green List (high evidence)",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:39:44.858164+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep104 has been classified as Green List (High Evidence).",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:38:14.648252+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP104 was added\ngene: CEP104 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP104 were set to 26477546\nPhenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781\nReview for gene: CEP104 was set to GREEN\nAdded comment: Three unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:29:59.304597+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:29:59.293425+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:29:21.262499+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from to IMAGE syndrome, MIM# 614732",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:28:33.544542+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:27:38.199075+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKN1C as Amber List (moderate evidence)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:27:38.188213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:26:58.772586+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IMAGE syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:22:03.508645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5R1 as ready",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:22:03.497888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5r1 has been classified as Red List (Low Evidence).",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:21:50.617099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:21:17.117870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:20:20.592975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5R1 were set to ",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:18:56.373998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5R1 as Red List (low evidence)",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:18:56.363957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5r1 has been classified as Red List (Low Evidence).",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:18:17.684066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:18:02.840520+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5R1 as ready",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:18:02.829961+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5r1 has been classified as Red List (Low Evidence).",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:16:49.855615+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:16:12.700080+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5R1 were set to ",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:15:38.101646+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:15:00.926657+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5R1 as Red List (low evidence)",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:15:00.916315+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5r1 has been classified as Red List (Low Evidence).",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:14:24.429778+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK5R1",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:05:00.543706+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88A as ready",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:05:00.532909+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Green List (High Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-02-01T14:04:45.269964+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM# 617507",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-02-01T13:28:25.763195+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC88A were set to ",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-02-01T12:11:25.129064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:53:21.986139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:38:51.546821+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARS2 as ready",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:38:51.536545+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Green List (High Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:38:39.103504+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CARS2 as Green List (high evidence)",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:38:39.093080+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Green List (High Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:37:44.331886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARS2 was added\ngene: CARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARS2 were set to 30139652; 25787132\nPhenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM#616672\nReview for gene: CARS2 was set to GREEN\nAdded comment: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype. \nSources: Expert list",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:28:38.831304+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CANT1 as ready",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:28:38.820157+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cant1 has been classified as Red List (Low Evidence).",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:28:27.501574+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:27:50.214331+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:26:11.284100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CANT1 as Red List (low evidence)",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:26:11.273755+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cant1 has been classified as Red List (Low Evidence).",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2020-02-01T11:25:29.137956+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CANT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desbuquois dysplasia 1, MIM# 251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:27:56.832948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPN as ready",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:27:56.822502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipn has been classified as Red List (Low Evidence).",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:27:44.018278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:27:22.254138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIPN were set to ",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:27:00.244346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:26:40.853037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIPN as Red List (low evidence)",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:26:40.842792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipn has been classified as Red List (Low Evidence).",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:26:19.879004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:19:51.621087+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLC2 was added\ngene: KLC2 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature\nSV/CNV tags were added to gene: KLC2.\nMode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLC2 were set to 26385635\nPhenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541\nReview for gene: KLC2 was set to RED\nAdded comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. The deletion is not detected by whole-exome sequencing. Later onset of sensorimotor peripheral neuropathy is a feature of the condition. \nSources: Literature",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-02-01T09:08:57.998338+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-01T08:55:18.641255+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPN as ready",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T08:55:18.630373+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipn has been classified as Red List (Low Evidence).",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T08:55:03.513066+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T08:54:25.433959+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIPN were set to ",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T08:53:48.532643+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T08:53:17.696318+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIPN as Red List (low evidence)",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T08:53:17.686028+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipn has been classified as Red List (Low Evidence).",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-02-01T08:52:37.370240+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPN",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:21:56.491565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA5A as ready",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:21:56.481038+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Red List (Low Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:21:49.680997+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:21:15.458077+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CA5A were set to ",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:08:48.861185+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBP as ready",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:08:48.842176+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Green List (High Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:05:24.465043+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN1 as ready",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:05:24.454666+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn1 has been classified as Green List (High Evidence).",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:05:19.291913+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN1 as Green List (high evidence)",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:05:19.280730+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn1 has been classified as Green List (High Evidence).",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:04:27.845863+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-01-31T23:04:27.835421+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
}
]
}