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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1202",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1200",
"results": [
{
"created": "2021-09-25T11:52:06.447346+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIC were set to ",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:51:12.971581+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:50:41.503759+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28288114; Phenotypes: Mental retardation, autosomal dominant 45, MIM# 617600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:48:36.393643+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:48:36.381036+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:46:35.717932+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome, MIM# 115150",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:45:52.313268+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRAF were set to ",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:45:12.322917+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:44:35.187379+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 34309696; Phenotypes: Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:42:47.828060+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG10 as ready",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:42:47.815607+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg10 has been classified as Red List (Low Evidence).",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:42:12.755470+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG10 was added\ngene: ALG10 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG10 were set to 33798445\nPhenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG\nReview for gene: ALG10 was set to RED\nAdded comment: Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort. \nSources: Literature",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:40:46.421954+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG10 as ready",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:40:46.410987+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg10 has been classified as Red List (Low Evidence).",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:40:40.237600+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG10 was added\ngene: ALG10 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG10 were set to 33798445\nPhenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG\nReview for gene: ALG10 was set to RED\nAdded comment: Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort. \nSources: Literature",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:39:18.417686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG10 as ready",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:39:18.408219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg10 has been classified as Red List (Low Evidence).",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-25T11:39:09.022419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG10 was added\ngene: ALG10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG10 were set to 33798445\nPhenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG\nReview for gene: ALG10 was set to RED\nAdded comment: Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort. \nSources: Literature",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:31:43.742760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRK1 as ready",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:31:43.733786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrk1 has been classified as Green List (High Evidence).",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:29:13.420083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRRK1 as Green List (high evidence)",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:29:13.409211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrk1 has been classified as Green List (High Evidence).",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:28:45.875119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRK1 was added\ngene: LRRK1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRK1 were set to 27829680; 27055475; 31571209; 32119750\nPhenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)\nReview for gene: LRRK1 was set to GREEN\nAdded comment: At least 4 unrelated families reported. \nSources: Expert Review",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:28:31.240648+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRK1 as ready",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:28:31.230480+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrk1 has been classified as Green List (High Evidence).",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:27:39.291083+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRRK1 as Green List (high evidence)",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:27:39.279811+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrk1 has been classified as Green List (High Evidence).",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T20:27:13.172683+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRK1 was added\ngene: LRRK1 was added to Skeletal dysplasia. Sources: Expert Review\nMode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRK1 were set to 27829680; 27055475; 31571209; 32119750\nPhenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)\nReview for gene: LRRK1 was set to GREEN\nAdded comment: At least 4 unrelated families reported. \nSources: Expert Review",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2021-09-24T16:00:42.520670+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF4A was added\ngene: KIF4A was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KIF4A were set to 24812067; 34346154\nPhenotypes for gene: KIF4A were set to Mental retardation, X-linked 100, MIM# 300923\nReview for gene: KIF4A was set to AMBER\nAdded comment: 12 families reported. Major structural brain abnormalities present in at least 3 (hydrocephalus), variable ID in several. At least 3 reported as having seizures, though variable severity (including febrile Sz in one). \nSources: Expert Review",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:55:14.741938+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF4A as ready",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:55:14.732300+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Green List (High Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:54:26.150795+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF4A as Green List (high evidence)",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:54:26.142285+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Green List (High Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:53:46.851064+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF4A was added\ngene: KIF4A was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review\nMode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KIF4A were set to 24812067; 34346154; 30679815\nPhenotypes for gene: KIF4A were set to Mental retardation, X-linked 100, MIM# 300923\nReview for gene: KIF4A was set to GREEN\nAdded comment: 12 families reported. Severe hydrocephalus present in at least 3. \nSources: Expert Review",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:49:18.862684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF4A were set to 24812067",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:49:02.272181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF4A as Green List (high evidence)",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:49:02.248215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Green List (High Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:46:50.521415+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": "Publications for gene: KIF4A were set to 24812067; 34346154",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:46:35.511202+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": "Publications for gene: KIF4A were set to 24812067",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:46:17.749971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF4A: Added comment: Further 11 families reported. Major structural brain abnormalities present in at least 3 (hydrocephalus), variable ID in several.; Changed rating: GREEN; Changed publications: 24812067, 34346154",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:45:36.475973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF4A as Green List (high evidence)",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:45:36.465657+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Green List (High Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-24T15:45:08.408096+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF4A: Added comment: Further 11 families reported. Major structural brain abnormalities present in at least 3 (hydrocephalus), variable ID in several.; Changed rating: GREEN; Changed publications: 24812067, 34346154",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-09-23T20:44:10.685749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPH1 as ready",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2021-09-23T20:44:10.674218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnph1 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2021-09-23T20:44:00.895410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPH1 as Green List (high evidence)",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2021-09-23T20:44:00.885430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnph1 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:40:13.660351+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAK3 as ready",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:40:13.650625+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak3 has been classified as Red List (Low Evidence).",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:40:11.353796+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAK3 were changed from to Intellectual developmental disorder, X-linked 30, MIM# 300558",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:39:43.302772+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAK3 were set to ",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:39:04.842279+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:38:42.129168+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAK3 as Red List (low evidence)",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:38:42.119443+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak3 has been classified as Red List (Low Evidence).",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:38:10.262630+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAK3: Rating: RED; Mode of pathogenicity: None; Publications: 25666757; Phenotypes: Intellectual developmental disorder, X-linked 30, MIM# 300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:33:19.775582+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:33:19.764442+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:33:14.848284+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC2A1 as Green List (high evidence)",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:33:14.837569+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:32:44.682540+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A1 was added\ngene: SLC2A1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC2A1 were set to 30799092; 18451999; 20129935; 10980529; 20221955; 31196579\nPhenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Disorders of glucose transport\nReview for gene: SLC2A1 was set to GREEN\nAdded comment: Well established gene-disease association. Mixture of ID and movement disorders, reported in a CP cohort. Treatable. \nSources: Expert list",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:04:53.717131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRGM as ready",
"entity_name": "IRGM",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:04:53.707450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irgm has been classified as Red List (Low Evidence).",
"entity_name": "IRGM",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:03:04.906209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRGM were changed from to {Inflammatory bowel disease (Crohn disease) 19} MIM#612278",
"entity_name": "IRGM",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:02:47.394753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRGM were set to ",
"entity_name": "IRGM",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:00:37.356613+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRGM as Red List (low evidence)",
"entity_name": "IRGM",
"entity_type": "gene"
},
{
"created": "2021-09-23T18:00:37.347710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irgm has been classified as Red List (Low Evidence).",
"entity_name": "IRGM",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:48:20.962526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UTP4 as ready",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:48:20.949374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: utp4 has been classified as Red List (Low Evidence).",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:48:13.741461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UTP4 were changed from to North American Indian childhood cirrhosis",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:47:51.953906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UTP4 were set to ",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:47:32.991683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UTP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:47:14.287606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UTP4 as Red List (low evidence)",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:47:14.278194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: utp4 has been classified as Red List (Low Evidence).",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:46:54.978745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: UTP4.",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:46:42.066513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UTP4: Rating: RED; Mode of pathogenicity: None; Publications: 12417987, 27535533; Phenotypes: North American Indian childhood cirrhosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:43:28.689378+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM149B1 as ready",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:43:28.679447+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:43:23.132107+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM149B1 as Green List (high evidence)",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:43:23.121052+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:41:44.805121+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1A as ready",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:41:44.794989+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:41:23.498632+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN1A as Green List (high evidence)",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:41:23.488940+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:40:19.060483+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PURA as ready",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:40:19.050969+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pura has been classified as Green List (High Evidence).",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:40:13.854816+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PURA as Green List (high evidence)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:40:13.844915+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pura has been classified as Green List (High Evidence).",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:39:14.177204+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HECW2 as ready",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:39:14.166298+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hecw2 has been classified as Green List (High Evidence).",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:38:51.460711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9219",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: IRGM: Rating: RED; Mode of pathogenicity: None; Publications: 17554261, 19299395, 18985712, 20106866, 21278745, 20360734; Phenotypes: {Inflammatory bowel disease (Crohn disease) 19} MIM#612278; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "IRGM",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:38:26.686704+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HECW2 as Green List (high evidence)",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:38:26.676296+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hecw2 has been classified as Green List (High Evidence).",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:13:32.490958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9219",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: UTP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2021-09-23T17:05:34.473163+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4130",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: FAM149B1 was added\ngene: FAM149B1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM149B1 were set to 30905400\nPhenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy\nReview for gene: FAM149B1 was set to GREEN\ngene: FAM149B1 was marked as current diagnostic\nAdded comment: Four unrelated, but consanguineous, families reported with 2 truncating variants. Developmental delay with hypotonia and intellectual disability are typical features, and many children have characteristic facies. \nSources: Literature",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2021-09-23T16:44:38.581149+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.129",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SCN1A was added\ngene: SCN1A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN1A were set to PMID: 33528536; PMID: 34364746; PMID: 34114234\nPhenotypes for gene: SCN1A were set to Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317); Dravet syndrome (OMIM 607208)\nReview for gene: SCN1A was set to GREEN\nAdded comment: Six cases described with missense (3 cases) or loss of function (3 cases) variants in SCN1A in individuals diagnosed with cerebral palsy. Mutations in SCN1A cause a spectrum of early-onset epileptic encephalopathies, with some cases reported to have movement disorders clinically overlapping with cerebral palsy. \nSources: Literature",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-09-23T14:56:08.117973+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.129",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PURA was added\ngene: PURA was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PURA were set to PMID: 34077496\nPhenotypes for gene: PURA were set to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)\nReview for gene: PURA was set to GREEN\nAdded comment: PURA loss of function and missense variants cause a clinically variable neurodevelopmental disorder with movement disorders including dystonia and limb spasticity described in some individuals. One case with a novel frameshift deletion described with dyskinetic cerebral palsy and intellectual disability. An additional 3 cases with de novo variants (1 nonsense, 2 missense) reported in a retrospective analysis of a Clinical Laboratory referral cohort with cerebral palsy. \nSources: Literature",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2021-09-23T13:55:21.417796+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.129",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: HECW2 was added\ngene: HECW2 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HECW2 were set to 33528536; 33098801\nPhenotypes for gene: HECW2 were set to Cerebral Palsy; Neurodevelopmental disorder with hypotonia, seizures, and absent language MIM# 617268\nReview for gene: HECW2 was set to GREEN\nAdded comment: 3 individuals in CP cohort with mono-allelic (2x de novo & 1 unknown inheritance) HECW2 variants. All individuals were diagnosed with idiopathic dystonic CP.\r\n\r\nHECW2 variants cause a neurodevelopmental disorder NDHSAL that presents with severe developmental delay, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly. \nSources: Expert list",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2021-09-23T13:36:54.845060+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FRA7A as Amber List (moderate evidence)",
"entity_name": "FRA7A",
"entity_type": "str"
},
{
"created": "2021-09-23T13:36:54.832794+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fra7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRA7A",
"entity_type": "str"
},
{
"created": "2021-09-23T13:30:23.712950+10:00",
"panel_name": "Limb and Digital Malformations SuperPanel",
"panel_id": 3730,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Radial Ray Abnormalities; Polydactyly; Hand and foot malformations",
"entity_name": null,
"entity_type": null
}
]
}