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{
"count": 220459,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1288",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1286",
"results": [
{
"created": "2021-06-21T21:19:05.898607+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB4 were set to ",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-06-21T21:18:36.677642+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-06-21T21:18:11.132425+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 8666348, 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-06-21T21:17:53.273771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB4 as ready",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-06-21T21:17:53.261777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Green List (High Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-06-21T21:17:18.738615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB4 were changed from to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-06-21T21:17:05.657825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB4 were set to ",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-06-21T21:16:18.202663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:52:10.477915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAS1 as ready",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:52:10.467578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:52:02.962615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OAS1 were changed from to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:51:50.865958+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAS1 as ready",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:51:50.852355+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:51:46.216223+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAS1 as Green List (high evidence)",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:51:46.206465+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:51:22.848905+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAS1 was added\ngene: OAS1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OAS1 were set to 34145065; 29455859\nPhenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia\nMode of pathogenicity for gene: OAS1 was set to Other\nReview for gene: OAS1 was set to GREEN\nAdded comment: PMID 34145065:6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinaemia. PMID 29455859: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent. \nSources: Literature",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:50:51.360894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OAS1 were set to ",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:50:36.262060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: OAS1 was changed from to Other",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:50:23.257500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:49:34.198002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34145065, 29455859; Phenotypes: Autoinflammatory immunodeficiency, infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:47:20.803746+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAS1 as ready",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:47:20.793555+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:47:17.032908+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAS1 as Green List (high evidence)",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:47:17.022934+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:46:52.486747+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAS1 was added\ngene: OAS1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OAS1 were set to 34145065\nPhenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency\nReview for gene: OAS1 was set to GREEN\nAdded comment: 6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia. \nSources: Literature",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:33:16.682233+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAR as Green List (high evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:33:16.673910+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:32:55.845355+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAR as Green List (high evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:32:55.835867+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:32:49.410959+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:32:49.397563+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Red List (Low Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:32:26.769854+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAR were set to 33528536\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM#\t615010\nReview for gene: ADAR was set to GREEN\nAdded comment: Multiple individuals reported with CP-like phenotype in a cohort study. \nSources: Literature",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:24:16.297629+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPDL as ready",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:24:16.288030+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Amber List (Moderate Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:24:09.092638+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Amber List (moderate evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:24:09.082801+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Amber List (Moderate Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:23:46.187998+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 33634263\nPhenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM#\t619026; Spastic paraplegia 83, autosomal recessive, MIM#\t619027\nReview for gene: HPDL was set to AMBER\nAdded comment: Overlapping phenotype, one family reported with cerebral palsy diagnosis and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:18:19.443359+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-1 as ready",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:18:19.432110+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-1 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:18:15.607371+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:17:51.301169+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-1 were set to ",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:17:26.460375+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-06-21T20:16:51.418317+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911641, 11854319, 24714694; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:56:36.291166+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: CCHS as Green List (high evidence)",
"entity_name": "CCHS",
"entity_type": "str"
},
{
"created": "2021-06-21T19:56:36.281567+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: cchs has been classified as Green List (High Evidence).",
"entity_name": "CCHS",
"entity_type": "str"
},
{
"created": "2021-06-21T19:56:27.207642+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: CCHS was added\nSTR: CCHS was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: CCHS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: CCHS were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: CCHS were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880\nReview for STR: CCHS was set to GREEN\nSTR: CCHS was marked as clinically relevant\nAdded comment: NM_003924.3:c.721_723[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect.\r\nNormal: 20 GCN (alanine) repeats\r\nUncertain significance: 21-23 GCN repeats have not been described in CCHS to date.\r\nLater onset: 24 GCN repeats and a subset of individuals with 25 GCN repeats may have a very mild phenotype with delayed onset of the disorder and/or manifestations only when the individual is exposed to respiratory depressants and/or has severe intercurrent pulmonary illness.\r\nNeonatal onset: 26-33 GCN repeats, as well as most with 25 GCN repeats, present in the newborn period \nSources: Expert list",
"entity_name": "CCHS",
"entity_type": "str"
},
{
"created": "2021-06-21T19:37:10.137002+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: PHPX as ready",
"entity_name": "PHPX",
"entity_type": "str"
},
{
"created": "2021-06-21T19:37:10.126898+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: phpx has been classified as Green List (High Evidence).",
"entity_name": "PHPX",
"entity_type": "str"
},
{
"created": "2021-06-21T19:37:06.761321+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: PHPX as Green List (high evidence)",
"entity_name": "PHPX",
"entity_type": "str"
},
{
"created": "2021-06-21T19:37:06.751829+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: phpx has been classified as Green List (High Evidence).",
"entity_name": "PHPX",
"entity_type": "str"
},
{
"created": "2021-06-21T19:36:57.687306+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PHPX was added\nSTR: PHPX was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: PHPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: PHPX were set to 12428212; 15800844; 33811808; 23505376; 19654509\nPhenotypes for STR: PHPX were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000\nReview for STR: PHPX was set to GREEN\nSTR: PHPX was marked as clinically relevant\nAdded comment: NM_005634.2:c.700_702[X]\r\nSufficient evidence for an association with growth hormone deficiency, however limited evidence for intellectual disability. ID and growth hormone deficiency identified in a single family with 26 Ala repeats (11 Ala expansion). 22 Ala repeats (7 Ala expansion) has been identified in two families with hypopituitarism (without ID). Mouse model demonstrates that mechanism of disease is polyAlanine tract leading to a loss of function of the protein, \nSources: Expert list",
"entity_name": "PHPX",
"entity_type": "str"
},
{
"created": "2021-06-21T19:08:12.876720+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4S1 as ready",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:08:12.865853+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4s1 has been classified as Green List (High Evidence).",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:08:09.931392+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:07:36.353989+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to ",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:07:08.369424+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:06:43.485961+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27444738, 24065543; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:04:46.861651+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:04:46.849633+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Green List (High Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:04:43.820161+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:04:20.073085+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:03:52.675651+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-06-21T19:03:23.663845+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 24065543, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:50:31.160442+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FREM1 as ready",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:50:31.145676+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frem1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:50:28.318209+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FREM1 as Amber List (moderate evidence)",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:50:28.308735+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frem1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:50:03.911887+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FREM1 was added\ngene: FREM1 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FREM1 were set to 32016392\nPhenotypes for gene: FREM1 were set to Congenital diaphragmatic hernia\nReview for gene: FREM1 was set to AMBER\nAdded comment: Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes. \nSources: Literature",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:46:44.548829+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-21T18:45:41.003544+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-21T18:40:47.568425+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG12 as Amber List (moderate evidence)",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:40:47.558442+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:38:16.570238+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported with CDH. \nSources: Literature; to: Two individuals reported as part of a CDH cohort.\r\nSources: Literature",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:37:54.704763+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG12: Changed rating: AMBER; Changed phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:37:05.104224+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA4 as ready",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:37:05.094276+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca4 has been classified as Red List (Low Evidence).",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:36:58.232833+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA4 was added\ngene: SMARCA4 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA4 were set to 33461977\nPhenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM#\t614609\nReview for gene: SMARCA4 was set to RED\nAdded comment: Single individual reported as part of a CDH cohort. \nSources: Literature",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:33:29.824091+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:33:29.813065+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Red List (Low Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:33:23.479728+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RASA1 were set to 33461977\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM#\t608354\nReview for gene: RASA1 was set to RED\nAdded comment: Single individual reported as part of a cohort. \nSources: Literature",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:31:42.294455+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHA1 as ready",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:31:42.284617+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdha1 has been classified as Red List (Low Evidence).",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:31:34.716468+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHA1 was added\ngene: PDHA1 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: PDHA1 were set to 33461977\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency, MIM#\t312170\nReview for gene: PDHA1 was set to RED\nAdded comment: Single individual reported as part of a cohort. Note variants in this gene can cause congenital anomalies. \nSources: Literature",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:29:21.846993+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:29:21.831417+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Red List (Low Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:29:15.754577+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCPH1 was added\ngene: MCPH1 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCPH1 were set to 33461977\nPhenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, MIM#\t251200\nReview for gene: MCPH1 was set to RED\nAdded comment: Single individual reported as part of a CDH cohort. \nSources: Literature",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:27:38.413684+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP1 as ready",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:27:38.403251+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:27:32.524433+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP1 was added\ngene: FOXP1 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP1 were set to 33461977\nPhenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features, MIM#\t613670\nReview for gene: FOXP1 was set to RED\nAdded comment: Single individual reported as part of a CDH cohort. \nSources: Literature",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:25:50.155833+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXC2 as ready",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:25:50.144853+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:25:37.507794+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXC2 were set to 33461977; 27663689\nPhenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, MIM#\t153400\nReview for gene: FOXC2 was set to RED\nAdded comment: Single individual reported with CDH, some supportive functional data. \nSources: Literature",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:23:03.393564+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:23:03.382902+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:23:00.392540+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBN1 as Green List (high evidence)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:23:00.382222+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:22:37.024843+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBN1 was added\ngene: FBN1 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBN1 were set to 31829751; 33461977\nPhenotypes for gene: FBN1 were set to Marfan syndrome, MIM#\t154700\nReview for gene: FBN1 was set to GREEN\nAdded comment: CDH is a rare feature of FBN1-associated disease. \nSources: Literature",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:19:12.099875+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:19:12.089038+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Red List (Low Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-06-21T18:19:04.265539+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, MIM#\t605724\nReview for gene: BRCA2 was set to RED\nAdded comment: Single affected individual reported, although FA is a multiple congenital anomaly syndrome. \nSources: Literature",
"entity_name": "BRCA2",
"entity_type": "gene"
}
]
}