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{
"count": 220493,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1538",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1536",
"results": [
{
"created": "2020-10-16T13:27:27.382352+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL41 were set to ",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:26:58.217724+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:26:29.395442+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: None; Publications: 24268659, 30986853, 28939701, 28826497; Phenotypes: Nemaline myopathy 9, MIM# 615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:25:43.764798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL41 as ready",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:25:43.754608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl41 has been classified as Green List (High Evidence).",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:25:34.066724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL41 were changed from to Nemaline myopathy 9, MIM# 615731",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:25:14.484192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL41 were set to ",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:24:55.126941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:24:32.822522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: None; Publications: 24268659, 30986853, 28939701, 28826497; Phenotypes: Nemaline myopathy 9, MIM# 615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:19:17.818972+11:00",
"panel_name": "Multiple pterygium syndrome",
"panel_id": 139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL40 as ready",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:19:17.800562+11:00",
"panel_name": "Multiple pterygium syndrome",
"panel_id": 139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl40 has been classified as Green List (High Evidence).",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:19:13.784780+11:00",
"panel_name": "Multiple pterygium syndrome",
"panel_id": 139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: KLHL40.",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:19:06.836583+11:00",
"panel_name": "Multiple pterygium syndrome",
"panel_id": 139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:18:34.304559+11:00",
"panel_name": "Multiple pterygium syndrome",
"panel_id": 139,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL40 were set to ",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:18:05.200930+11:00",
"panel_name": "Multiple pterygium syndrome",
"panel_id": 139,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:17:35.856581+11:00",
"panel_name": "Multiple pterygium syndrome",
"panel_id": 139,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:15:22.432082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: KLHL40.",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:13:34.877582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL40 as ready",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:13:34.865804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl40 has been classified as Green List (High Evidence).",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:13:27.372052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:13:08.537463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL40 were set to ",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:09:43.750835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:09:17.237118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:08:31.613872+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: KLHL40.",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:08:14.398879+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL40 as ready",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:08:14.388699+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl40 has been classified as Green List (High Evidence).",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:08:11.292355+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:07:43.000750+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL40 were set to ",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:07:14.816212+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:06:45.736284+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:58:25.068751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO18B as ready",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:58:25.060367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo18b has been classified as Green List (High Evidence).",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:58:17.814673+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO18B were changed from to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:57:58.729878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO18B were set to ",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:57:38.729806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYO18B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:57:18.502334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25748484, 27858739, 32637634, 32184166, 27879346; Phenotypes: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:46:09.917749+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLA as ready",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:46:09.909970+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:46:07.601449+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLA were changed from to Fabry disease 301500; Fabry disease, cardiac variant 301500",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:45:37.588911+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLA were set to ",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:45:07.690856+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GLA was changed from to Other",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-10-16T12:43:09.722672+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLA 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": "GLA",
"entity_type": "gene"
},
{
"created": "2020-10-16T10:31:18.035086+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.43",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 8878432, 31613176; Phenotypes: Fabry disease 301500, Fabry disease, cardiac variant 301500; 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": "GLA",
"entity_type": "gene"
},
{
"created": "2020-10-16T06:46:57.751515+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRV1 as ready",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-10-16T06:46:57.743446+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrv1 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-10-16T06:46:46.011448+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene are associated with Usher syndrome.\r\n\r\nSome evidence that variants in this gene are implicated in epilepsy, based on animal model, presence in the recurrent 5q14.3 deletion, and over-representation of rare variants in myoclonic epilepsy cohorts (29266188) and identification in individual cases (29261713; 32962041). However, some of the variants do not meet pathogenicity criteria (present in pop datasets, no segregation information available) and contribution may be under a polygenic model. \nSources: Expert Review; to: Bi-allelic variants in this gene are associated with Usher syndrome.\r\n\r\nSome evidence that mono-allelic variants in this gene are implicated in epilepsy, based on animal model, presence in the recurrent 5q14.3 deletion, and over-representation of rare variants in myoclonic epilepsy cohorts (29266188) and identification in individual cases (29261713; 32962041). However, some of the variants do not meet pathogenicity criteria (present in pop datasets, no segregation information available) and contribution may be under a polygenic model. \r\nSources: Expert Review",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-10-16T06:46:32.755517+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRV1 was added\ngene: ADGRV1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ADGRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADGRV1 were set to 29266188; 29261713; 32962041\nPhenotypes for gene: ADGRV1 were set to Myoclonic epilepsy; febrile seizures; epilepsy\nReview for gene: ADGRV1 was set to RED\nAdded comment: Bi-allelic variants in this gene are associated with Usher syndrome.\r\n\r\nSome evidence that variants in this gene are implicated in epilepsy, based on animal model, presence in the recurrent 5q14.3 deletion, and over-representation of rare variants in myoclonic epilepsy cohorts (29266188) and identification in individual cases (29261713; 32962041). However, some of the variants do not meet pathogenicity criteria (present in pop datasets, no segregation information available) and contribution may be under a polygenic model. \nSources: Expert Review",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:29:52.677199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEGF10 as ready",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:29:52.665513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: megf10 has been classified as Green List (High Evidence).",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:29:44.557885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEGF10 were changed from to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:29:26.553590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEGF10 were set to ",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:29:07.788357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEGF10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:28:47.881444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22101682, 22371254, 30802937; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:05:44.378635+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTC1 as ready",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:05:44.369280+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Green List (High Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:05:41.811767+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTC1 were changed from to Atrial septal defect 5, MIM# 612794",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:05:12.487693+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTC1 were set to ",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:04:44.469059+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-10-15T21:04:13.862342+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17947298, 31430208; Phenotypes: Atrial septal defect 5, MIM# 612794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:46:39.701405+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to 20671153; 25427950",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:46:06.310621+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Green List (high evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:46:06.300159+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Green List (High Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:45:35.934318+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDPCP: Added comment: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.; Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:44:52.761100+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to 20671153; 25427950",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:44:14.647168+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Green List (high evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:44:14.636486+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Green List (High Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:43:46.430469+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDPCP: Added comment: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.; Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:42:57.951502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to 20671153; 25427950",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:42:30.232988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Green List (high evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:42:30.216629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Green List (High Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:42:08.910304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: WDPCP: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:41:51.999980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDPCP: Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185; Changed phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:41:03.879741+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:40:44.305599+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from Bardet-Biedl syndrome 15, MIM# 615992 to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:40:21.517467+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to 20671153; 25427950",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:39:57.559027+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Green List (high evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:39:57.548263+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Green List (High Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:39:27.314741+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDPCP: Added comment: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.; Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:38:55.845401+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Green List (high evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:38:55.837287+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Green List (High Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:38:27.938480+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported; the first one with a BBS phenotype, and in the second one affected individual had polysyndactyly and tongue hamartomas, so phenotype consistent with OFD rather than BBS.; to: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:38:09.674856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to ",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:37:58.678374+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDPCP: Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:37:38.476292+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Green List (high evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:37:38.459957+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Green List (High Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:37:07.143738+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDPCP: Changed rating: GREEN",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:36:58.885195+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported; the first one with a BBS phenotype, and in the second one affected individual had polysyndactyly and tongue hamartomas, so phenotype consistent with OFD rather than BBS.; to: At least four families reported with ciliopathy phenotypes (BBS, OFD, syndromic retinopathy).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:36:06.350639+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDPCP: Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:32:21.646372+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to 28289185; 27158779; 25427950",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:31:40.811511+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:31:40.803800+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:31:34.967870+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Amber List (moderate evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:31:34.957914+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:31:15.591156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:30:48.611964+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Amber List (moderate evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:30:48.601813+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:30:18.101643+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:29:34.392290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:28:34.387768+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:28:34.377136+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
}
]
}