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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=664",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=662",
"results": [
{
"created": "2022-12-15T06:47:22.649273+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM8A were changed from Thrombocytopaenia-absent radius syndrome to Thrombocytopenia-absent radius syndrome, MIM# 274000",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:47:08.171671+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBM8A as Red List (low evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:47:08.159283+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Red List (Low Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:46:55.693531+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM# 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:43:58.017589+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB23 as ready",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:43:58.004329+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab23 has been classified as Red List (Low Evidence).",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:43:53.808193+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB23 were changed from Carpenter syndrome to Carpenter syndrome (MIM#201000)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:43:41.665909+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB23 as Red List (low evidence)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:43:41.653918+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab23 has been classified as Red List (Low Evidence).",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:43:30.351611+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:40:46.394304+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAF1 as ready",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:40:46.348661+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Red List (Low Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:40:40.246790+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAF1 were changed from Noonan syndrome to Noonan syndrome 5, MIM# 611553",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:40:28.261958+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAF1 as Red List (low evidence)",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:40:28.247610+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Red List (Low Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:40:14.934095+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 5, MIM# 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:27:23.174424+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BUB1B were set to 18548531",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:25:58.773021+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN5 were changed from alternating hemiplegia, MONDO:0016210, CLDN5-related to Syndromic disorder, MONDO:0002254, CLDN5-related",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:25:23.595475+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLDN5 were set to 35714222",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:24:45.904607+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:24:09.590956+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN5 as Green List (high evidence)",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:24:09.573216+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:22:16.438313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN5 were changed from alternating hemiplegia, MONDO:0016210, CLDN5-related to Syndromic disorder, MONDO:0002254, CLDN5-related",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:21:48.591407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLDN5 were set to 35714222",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:21:25.221658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:20:59.432464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN5 as Green List (high evidence)",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:20:59.415917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:20:05.375204+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN5 as ready",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:20:05.363561+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:19:53.695545+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN5 as ready",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:19:53.677263+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:19:44.662591+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN5 were changed from seizures; developmental delay; microcephaly; brain calcifications to Syndromic disorder, MONDO:0002254, CLDN5-related",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:19:39.249229+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN5 were changed from seizures; developmental delay; microcephaly; brain calcifications to Syndromic disorder, MONDO:0002254, CLDN5-related",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:18:54.947970+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN5 as Green List (high evidence)",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:18:54.936090+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:18:29.291697+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CLDN5 was changed from None to None",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:18:20.878249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disorder, MONDO:0002254, CLDN5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:17:14.116026+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:16:37.229742+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN5 as Green List (high evidence)",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:16:37.215572+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:15:59.105335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disorder, MONDO:0002254, CLDN5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:15:21.867476+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN5 as ready",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:15:21.859125+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Reported variants are missense, but zebrafish model supports loss of function mechanism.",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:15:21.828325+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:14:47.857579+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN5 as ready",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:14:47.844108+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:14:45.079766+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN5 were changed from seizures; developmental delay; microcephaly; brain calcifications to Syndromic disorder, MONDO:0002254, CLDN5-related",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:14:12.894908+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:13:06.384235+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN5 as Green List (high evidence)",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:13:06.371854+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Green List (High Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:12:33.802232+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disorder, MONDO:0002254, CLDN5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:09:06.421726+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD2 as ready",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:09:06.408439+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Green List (High Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:09:02.330353+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SETD2 as Green List (high evidence)",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:09:02.316543+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Green List (High Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:08:17.658464+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETD2 was added\ngene: SETD2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD2 were set to 32710489\nPhenotypes for gene: SETD2 were set to Rabin-Pappas syndrome,MIM# 620155\nReview for gene: SETD2 was set to GREEN\nAdded comment: PMID 32710489: 12 unrelated patients, ranging from 1 month to 12 years of age, with a multisystemic neurodevelopmental disorder associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740W). \r\n\r\nKey clinical features: severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine. \nSources: Literature",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:05:19.057596+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831 to Luscan-Lumish syndrome, MIM#616831; Rabin-Pappas syndrome,MIM# 620155; Intellectual developmental disorder, autosomal dominant 70, MIM# 620157",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:04:50.170740+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD2 were set to 29681085",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:04:02.476860+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD2: Added comment: PMID 32710489: 12 unrelated patients, ranging from 1 month to 12 years of age, with a multisystemic neurodevelopmental disorder associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740W). \r\n\r\nKey clinical features: severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine.\r\n\r\nFurther 3 unrelated patients identified with mild to moderately impaired intellectual development associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740Q).\r\n\r\nThese are distinct clinically from Luscan-Lumish syndrome, which is characterised by overgrowth.; Changed publications: 29681085, 32710489; Changed phenotypes: Luscan-Lumish syndrome, MIM#616831, Rabin-Pappas syndrome,MIM# 620155, Intellectual developmental disorder, autosomal dominant 70, MIM# 620157",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:02:08.859883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831; Luscan-Lumish syndrome, MIM#616831; Rabin-Pappas syndrome,MIM# 620155; Intellectual developmental disorder, autosomal dominant 70, MIM# 620157 to Luscan-Lumish syndrome, MIM#616831; Rabin-Pappas syndrome,MIM# 620155; Intellectual developmental disorder, autosomal dominant 70, MIM# 620157",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:00:37.887570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831 to Luscan-Lumish syndrome, MIM#616831; Luscan-Lumish syndrome, MIM#616831; Rabin-Pappas syndrome,MIM# 620155; Intellectual developmental disorder, autosomal dominant 70, MIM# 620157",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T05:59:22.912542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD2 were set to 29681085",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-15T05:58:58.916850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD2: Added comment: PMID 32710489: 12 unrelated patients, ranging from 1 month to 12 years of age, with a multisystemic neurodevelopmental disorder associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740W). \r\n\r\nKey clinical features: severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine.\r\n\r\nFurther 3 unrelated patients identified with mild to moderately impaired intellectual development associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740Q).\r\n\r\nThese are distinct clinically from Luscan-Lumish syndrome, which is characterised by overgrowth.; Changed publications: 29681085, 32710489; Changed phenotypes: Luscan-Lumish syndrome, MIM#616831, Rabin-Pappas syndrome,MIM# 620155, Intellectual developmental disorder, autosomal dominant 70, MIM# 620157",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:57:46.167316+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDX as ready",
"entity_name": "RDX",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:57:46.155027+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdx has been classified as Green List (High Evidence).",
"entity_name": "RDX",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:57:37.071743+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RDX: Changed rating: GREEN",
"entity_name": "RDX",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:57:30.745822+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RDX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 24, MIM# 611022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RDX",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:54:24.104483+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:54:24.091760+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Red List (Low Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:54:17.377068+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome to Rothmund-Thomson syndrome, type 2, MIM# 268400",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:54:03.853673+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RECQL4 as Red List (low evidence)",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:54:03.841514+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Red List (Low Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:53:51.847142+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:52:32.497542+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: RET.\nTag cancer tag was added to gene: RET.\nTag treatable tag was added to gene: RET.",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:52:16.200910+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:46:49.703638+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REN as ready",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:46:49.689988+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ren has been classified as Red List (Low Evidence).",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:46:46.068717+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REN were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:46:34.363160+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: REN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:46:21.019350+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nPresents as fetal anuria leading to perinatal death.\r\n\r\nNo specific treatment.; to: Established gene-disease association.\r\n\r\nBi-allelic LOF variants cause renal tubular dysgenesis, which presents as fetal anuria leading to perinatal death.. Mono-allelic variants, likely through a different mechanism (mostly missense) cause tubulointerstitial disease. More severe phenotype associated with variants that are located in the protein leader peptide and affecting its co-translational insertion in the endoplasmic reticulum (ER). \r\n\r\nNo specific treatment for either.",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:45:14.614012+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REN as Red List (low evidence)",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:45:14.602397+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ren has been classified as Red List (Low Evidence).",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:45:01.786289+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:42:04.338596+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RETREG1 as ready",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:42:04.322146+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: retreg1 has been classified as Red List (Low Evidence).",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:41:12.553393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RETREG1 were changed from MONDO:0013142; Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:40:53.542994+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RETREG1 as Red List (low evidence)",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:40:53.523112+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: retreg1 has been classified as Red List (Low Evidence).",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:40:41.761554+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:39:15.283150+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFWD3 as ready",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:39:15.270656+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Red List (Low Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:39:10.609447+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFWD3 as Red List (low evidence)",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:39:10.597737+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Red List (Low Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:38:51.522709+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:35:42.954768+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIITA as ready",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:35:42.940990+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciita has been classified as Green List (High Evidence).",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:35:37.595384+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIITA as Green List (high evidence)",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:35:37.577523+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciita has been classified as Green List (High Evidence).",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:35:27.301519+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CIITA.\nTag immunological tag was added to gene: CIITA.",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2022-12-14T18:35:12.410548+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIITA was added\ngene: CIITA was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIITA were set to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920\nReview for gene: CIITA was set to GREEN\nAdded comment: 13 individuals of 11 unrelated families; two mouse models. Homozygous and compound heterozygous variants were identified in these individuals (missense, nonsense and splicing) resulting in premature stop codon and truncated protein, or inactive protein. Affected individuals typically present in infancy with severe (recurrent) respiratory and gastrointestinal tract infections and defective MHC II expression in PBMCs\r\n\r\nTreatment: BMT. \nSources: Expert Review",
"entity_name": "CIITA",
"entity_type": "gene"
}
]
}