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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1190",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1188",
"results": [
{
"created": "2021-10-07T22:18:14.013084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9347",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: AARS: Rating: ; Mode of pathogenicity: None; Publications: 33909043; Phenotypes: trichothiodystrophy, MONDO:0018053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:56:16.120163+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN5 as ready",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:56:16.111228+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:56:10.682501+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN5 as Green List (high evidence)",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:56:10.673119+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:55:33.288556+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN5 was added\ngene: CLN5 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLN5 were set to 32983231; 15728307; 20157158\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM#\t256731\nReview for gene: CLN5 was set to GREEN\nAdded comment: Well established gene-disease association, initial presentation with seizures reported. \nSources: Expert Review",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:16:49.580139+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:16:49.569505+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:16:45.632596+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR45 were set to PMID: 33528536, 34364746",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:15:43.022803+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:14:54.368356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIP as ready",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:14:54.358721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aip has been classified as Green List (High Evidence).",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:14:39.829259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIP were changed from to Pituitary adenoma predisposition MIM#102200",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:14:18.336405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIP were set to ",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:13:59.934357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:11:59.826759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:11:40.024548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:11:18.465145+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:10:46.858772+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:10:31.983711+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:09:54.841976+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:09:01.525713+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1G1 were changed from Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy to Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467; Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:08:29.616971+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AP1G1: Changed phenotypes: Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467, Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548, Neurodevelopmental disorder (NDD), Intellectual Disability, Epilepsy",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:08:12.968794+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1G1 were changed from Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy to Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467; Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:07:32.028804+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1G1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467, Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:07:16.385318+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1G1 were changed from Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy to Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467; Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:06:44.294587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AP1G1: Changed rating: GREEN; Changed phenotypes: Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467, Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:05:16.144998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CERKL were set to 33322828; 32865075; 32411380",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:04:54.234571+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CERKL as ready",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:04:54.224807+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cerkl has been classified as Green List (High Evidence).",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:04:51.893641+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CERKL were changed from Retinitis pigmentosa 26, 608380 to Retinitis pigmentosa 26, MIM# 608380",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:04:38.457664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CERKL: Changed publications: 33322828, 32865075, 32411380, 14681825, 24043777, 28838317, 27208204, 28130426",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:04:29.389399+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CERKL were set to ",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:04:12.099868+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33322828, 32865075, 32411380; Phenotypes: Retinitis pigmentosa 26, MIM# 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:03:20.597778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CERKL as ready",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:03:20.587604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cerkl has been classified as Green List (High Evidence).",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:03:06.049284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CERKL were changed from Retinitis pigmentosa 26, MIM# 608380 to Retinitis pigmentosa 26, MIM# 608380",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:03:06.031615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CERKL were changed from to Retinitis pigmentosa 26, MIM# 608380",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:02:35.609476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CERKL were set to ",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:02:15.717909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CERKL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T14:01:45.572257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33322828, 32865075, 32411380; Phenotypes: Retinitis pigmentosa 26, MIM# 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2021-10-07T13:40:11.612650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9338",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Germline variants in AIP cause predisposition to pituitary adenomas which may result in acromegaly. \r\n\r\nA 2015 cohort study of 143 patients with pituitary gigantism who consented to genetic testing found 29% had variants in AIP. Age at first symptoms was 9-13 years, age at diagnosis 14-20 years.; to: Germline variants in AIP cause predisposition to pituitary adenomas which may result in acromegaly. \r\n\r\nA 2015 cohort study of 143 patients with pituitary gigantism who consented to genetic testing found 29% had variants in AIP. Age at first symptoms was 9-13 years, age at diagnosis 14-20 years.\r\n\r\nMany patients have no family history, suggesting low penetrance.",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T13:39:25.791503+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.257",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: AIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16728643, 17360484, 26187128; Phenotypes: Pituitary adenoma predisposition MIM#102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T13:36:19.538731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9338",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: AIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16728643, 17360484, 26187128; Phenotypes: Pituitary adenoma predisposition MIM#102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:29:28.509790+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:29:28.499824+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:29:10.815534+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Cerebral Malformation Disorders to Cerebral cavernous malformations 4, MIM#619538",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:28:59.753257+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3CA were set to ",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:28:45.621169+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:27:04.698965+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR45 as Green List (high evidence)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:27:04.687528+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:26:43.867833+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR45 as Green List (high evidence)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:26:43.858125+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:26:37.906103+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CA as Green List (high evidence)",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:26:37.894242+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:26:18.058662+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR45 as Green List (high evidence)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:26:18.049467+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:26:17.269361+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:26:08.560885+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34496175; Phenotypes: Cerebral cavernous malformations 4, MIM#619538; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:25:29.628933+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WDR45 was added\ngene: WDR45 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: WDR45 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: WDR45 were set to PMID: 33528536, 34364746\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, OMIM # 300894\nReview for gene: WDR45 was set to GREEN\nAdded comment: Established gene for neurodevelopmental/degenerative disorder with spasticity and dystonia. Moreno-De-Luca et al. (2021) reported 4 patients with CP with P/LP variants.\r\nZahrani et al. (2021) reported 2 patients with dystonic/hypotonic CP with variants. \nSources: Literature",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:22:50.051593+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZEB2 as ready",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:22:50.032955+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:22:45.564454+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZEB2 were set to PMID: 33528536, 33098801",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:21:57.233826+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3A as ready",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:21:57.224262+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3a has been classified as Green List (High Evidence).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:21:07.809553+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB4A as ready",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:21:07.796794+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb4a has been classified as Green List (High Evidence).",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:21:01.775271+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB4A were set to PMID: 34531397, 33528536",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:20:07.711130+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:20:07.698552+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Red List (Low Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:19:28.434505+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1C as ready",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:19:28.424437+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Green List (High Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:19:24.688596+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1C as Green List (high evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:19:24.678558+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Green List (High Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:18:56.556378+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1C was added\ngene: CACNA1C was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1C were set to 34163037\nPhenotypes for gene: CACNA1C were set to Neurodevelopmental abnormalities and epilepsy, no OMIM#\nReview for gene: CACNA1C was set to GREEN\nAdded comment: Rodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome. Functional studies of a subgroup of missense variants demonstrated loss of function, neutral effect, and gain of function on channel function in vitro. \nSources: Literature",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:18:29.546937+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:17:26.922156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:16:03.299099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK1 as ready",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:16:03.277844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Green List (High Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:15:54.815464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK1 were changed from to Neurodevelopmental disorder, no OMIM#",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:15:35.410879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK1 were set to ",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:15:33.546182+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZEB2 as Green List (high evidence)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:15:33.524639+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:15:10.665235+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZEB2 as Green List (high evidence)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:15:10.655207+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:15:09.508822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:14:53.987396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34113010, 22503632, 25188300; Phenotypes: Neurodevelopmental disorder, no OMIM#; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:14:49.490444+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZEB2 as Green List (high evidence)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:14:49.480130+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:14:33.721096+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZEB2 as Green List (high evidence)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:14:33.693116+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:14:17.973995+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZEB2 as Green List (high evidence)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:14:17.959792+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:13:55.896552+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZEB2 as Green List (high evidence)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:13:55.885184+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:13:38.872258+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZEB2 as Green List (high evidence)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:13:38.848101+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:13:33.270162+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK1 were changed from Autism to Neurodevelopmental disorder, no OMIM#",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:13:00.774374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK1 were set to 22503632; 25188300",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:12:33.967693+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK1",
"entity_type": "gene"
}
]
}