HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1201",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1199",
"results": [
{
"created": "2021-09-25T14:08:46.282472+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MINPP1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 16, MIM# 619527",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2021-09-25T14:08:12.839020+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MINPP1: Changed phenotypes: Pontocerebellar hypoplasia, type 16, MIM# 619527",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:14:11.717230+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZC4H2 were set to 23623388; 31885220",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:13:52.004408+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZC4H2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:13:19.994064+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388, 34322088, 33949289, 31885220, 31206972; Phenotypes: Wieacker-Wolff syndrome, MIM# 314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:12:14.267338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZC4H2 as ready",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:12:14.252559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc4h2 has been classified as Green List (High Evidence).",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:12:06.276827+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZC4H2 as ready",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:12:06.260870+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc4h2 has been classified as Green List (High Evidence).",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:12:01.961881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZC4H2 were changed from to Wieacker-Wolff syndrome, MIM# 314580",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:11:35.148052+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZC4H2 were set to ",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:11:01.453189+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZC4H2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:10:27.571489+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388, 34322088, 33949289, 31885220, 31206972; Phenotypes: Wieacker-Wolff syndrome, MIM# 314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:10:15.556184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZC4H2 were changed from to Wieacker-Wolff syndrome, MIM# 314580",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:09:53.706520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZC4H2 were set to ",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:09:31.349367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZC4H2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:09:03.601584+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZC4H2 were set to 23623388",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:08:39.369271+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability and spasticity are key features. At least one family had a diagnosis of CP.; to: Intellectual disability and spasticity are key features, more than 40 families reported. At least one family had a diagnosis of CP.",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:08:24.713657+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZC4H2: Changed publications: 23623388, 34322088, 33949289, 31885220, 31206972",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:08:04.653597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388, 34322088, 33949289, 31885220, 31206972; Phenotypes: Wieacker-Wolff syndrome, MIM# 314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:03:50.767178+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZC4H2 as ready",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:03:50.755326+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc4h2 has been classified as Green List (High Evidence).",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:03:41.688628+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZC4H2 were changed from to Wieacker-Wolff syndrome, MIM# 314580",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:03:12.693155+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZC4H2 were set to ",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:02:42.441122+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZC4H2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T13:02:17.907483+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388; Phenotypes: Wieacker-Wolff syndrome, MIM# 314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:57:44.135237+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG11 as ready",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:57:44.124896+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg11 has been classified as Green List (High Evidence).",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:57:38.431768+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPG11 as Green List (high evidence)",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:57:38.421374+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg11 has been classified as Green List (High Evidence).",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:57:14.419613+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPG11 was added\ngene: SPG11 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG11 were set to 34183250; 33581793\nPhenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#\t604360\nReview for gene: SPG11 was set to GREEN\nAdded comment: Intellectual disability and spasticity, reported in CP cohort.\r\n\r\nRecent review of >300 individuals with SPG11-related disease. Mean age at onset was 13.10 ± 3.65 years, with initial symptoms like gait disturbance (107/195, 54.87%) and intellectual disability (47/195, 24.10%). Cognitive decline (228/270, 84.44%) was the most common complex manifestation stepped by dysarthria (134/195, 68.72%), neuropathy (112/177, 63.28%), amyatrophy, sphincter disturbance (60/130, 46.15%) and ataxia (90/194, 46.39%). \nSources: Expert list",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:53:59.646567+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCB1 as ready",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:53:59.636151+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Red List (Low Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:53:42.482647+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCB1 was added\ngene: SMARCB1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3, MIM#\t614608\nReview for gene: SMARCB1 was set to RED\nAdded comment: Intellectual disability and dysmorphic features, no strong phenotypic overlap with CP. \nSources: Expert list",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:47:20.961676+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACOX1 as ready",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:47:20.932533+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:47:17.502560+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:46:41.609250+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACOX1 were set to ",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:46:04.988323+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACOX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:45:34.377565+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:43:43.382874+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALX4 as ready",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:43:43.366931+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alx4 has been classified as Red List (Low Evidence).",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:43:36.409025+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALX4 was added\ngene: ALX4 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALX4 were set to 33269135\nPhenotypes for gene: ALX4 were set to Parietal foramina 2, MIM#\t609597\nReview for gene: ALX4 was set to RED\nAdded comment: Single case report of seizures in an individual with ALX4 variant and parietal foramina, unclear if related. \nSources: Expert Review",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:40:34.976193+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRV1 were changed from Myoclonic epilepsy; febrile seizures; epilepsy to Myoclonic epilepsy; febrile seizures; epilepsy; Rolandic epilepsy",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:39:53.586342+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRV1 were set to 29266188; 29261713; 32962041",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:39:07.943039+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRV1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:38:24.988074+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRV1 as Amber List (moderate evidence)",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:38:24.977812+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrv1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:36:49.694974+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADGRV1: Added comment: Two families reported with bi-allelic variants and Rolandic epilepsy.; Changed rating: AMBER; Changed publications: 29266188, 29261713, 32962041, 34160719; Changed phenotypes: Myoclonic epilepsy, febrile seizures, epilepsy, Rolandic epilepsy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:36:17.533768+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTG1 as Green List (high evidence)",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:36:17.523440+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:35:50.746116+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTG1 as Green List (high evidence)",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:35:50.735263+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:35:41.790753+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:35:41.778513+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:35:29.520901+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTG1 as Green List (high evidence)",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:35:29.511966+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:34:42.312394+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG1 was added\ngene: ACTG1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTG1 were set to 22366783; 25052316\nPhenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, MIM#\t614583\nReview for gene: ACTG1 was set to GREEN\nAdded comment: Well established gene-disease association. ID and seizures correlate with extent of brain anomalies. \nSources: Expert Review",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:30:35.462097+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AARS2 were set to 21549344; 25817015",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:29:59.448027+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AARS2 as Amber List (moderate evidence)",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:29:59.437733+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:29:29.118151+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Seizures not a prominent feature of these conditions.; to: Seizures reported in some.",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:29:11.446184+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AARS2: Changed rating: AMBER; Changed publications: 21549344, 25817015, 32571458, 24808023",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:26:49.766376+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB3 as ready",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:26:49.752294+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb3 has been classified as Green List (High Evidence).",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:26:46.518016+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:26:07.088340+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB3 were set to ",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:25:28.771487+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:24:49.932156+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:21:03.018704+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A4 as ready",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:21:03.007911+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:20:56.223748+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A4 was added\ngene: SLC4A4 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A4 were set to 33439394\nPhenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, MIM#\t604278\nReview for gene: SLC4A4 was set to RED\nAdded comment: Bi-allelic variants in SLC4A4 cause a syndrome characterised by proximal renal tubular acidosis (pRTA), ID, dental and ocular abnormalities, and hemiplegic migraine.\r\n\r\nSingle family reported with 4 affected individuals, where seizures were a prominent feature, with adult onset. Two developed life-threatening status epilepticus. \nSources: Expert Review",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:09:05.869603+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A3 as ready",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:09:05.858544+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:09:02.663687+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM# 612656",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:08:31.512925+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A3 were set to ",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:07:51.033236+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:07:49.869299+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A3 as ready",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:07:49.854829+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:07:28.871563+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A3 as Red List (low evidence)",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:07:28.862594+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:06:58.207182+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: 19139306, 16116111, 29208948, 27829685, 32741053; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:06:56.218001+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A3 as Green List (high evidence)",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:06:56.196968+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:06:27.188850+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A3 was added\ngene: SLC1A3 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC1A3 were set to 19139306; 16116111; 29208948; 27829685; 32741053\nPhenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6, MIM# 612656\nReview for gene: SLC1A3 was set to GREEN\nAdded comment: Seven families reported. Episodic ataxia type 6 (EA6) differs from other EA forms in long attack duration, epilepsy and absent myokymia, nystagmus, and tinnitus. \nSources: Expert Review",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:04:15.808482+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAST1 as ready",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:04:15.791628+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mast1 has been classified as Green List (High Evidence).",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:03:12.957225+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAST1 as Green List (high evidence)",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:03:12.925174+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mast1 has been classified as Green List (High Evidence).",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2021-09-25T12:02:34.848533+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAST1 was added\ngene: MAST1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST1 were set to 31721002; 30449657; 32198973\nPhenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273\nReview for gene: MAST1 was set to GREEN\nAdded comment: 7 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. Intellectual disability and seizures are clinical features, together with characteristic brain imaging abnormalities.\r\n\r\nIn vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls. \r\n\r\n1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1. \nSources: Expert Review",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:58:50.682224+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA2 as Green List (high evidence)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:58:50.671287+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:58:29.711046+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA2 as Green List (high evidence)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:58:29.700706+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:58:23.000445+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:58:22.990320+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:57:52.215314+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA2 were set to 33333793; 34325301\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM#\t607855; Muscular dystrophy, limb-girdle, autosomal recessive 23\t, MIM#618138\nReview for gene: LAMA2 was set to GREEN\nAdded comment: Epilepsy is a common, often severe, feature of LAMA2-related muscular dystrophy (LAMA2-RD) and could represent its onset and main manifestation, even in the absence of overt muscle involvement, reviewed in PMID 34325301. \nSources: Literature",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:52:32.659283+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIC as ready",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:52:32.645714+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cic has been classified as Green List (High Evidence).",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:52:29.962855+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIC were changed from to Mental retardation, autosomal dominant 45, MIM# 617600",
"entity_name": "CIC",
"entity_type": "gene"
}
]
}