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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1144",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1142",
"results": [
{
"created": "2021-11-05T12:45:40.285062+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:45:24.223444+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Green List (high evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:45:24.213775+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:45:14.980561+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:44:56.823234+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:44:50.072248+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNPC3 were set to 29866761; 32462814",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:44:42.154858+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Green List (high evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:44:42.141921+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:44:32.838968+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:44:29.142258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:44:14.140493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNPC3 were set to 29866761; 32462814",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:43:45.284968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Green List (high evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:43:45.260454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:43:28.490925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:41:15.628108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ2 as ready",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:41:15.618114+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:41:10.495139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ2 were changed from to Developmental and epileptic encephalopathy 7, MIM# 613720; Intellectual disability",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:40:38.299253+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ2 were set to ",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:40:10.659117+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:39:33.658339+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33659638, 33754465; Phenotypes: Developmental and epileptic encephalopathy 7, MIM# 613720, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:32:26.819926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICD2 as ready",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:32:26.807694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Green List (High Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:32:23.302318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BICD2 were changed from reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:31:55.746473+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:30:07.750382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:30:02.996566+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BICD2: Added comment: Prenatal presentations reported.; Changed rating: GREEN; Changed publications: 33547725",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:19:38.955825+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC21B as ready",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:19:38.944138+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc21b has been classified as Red List (Low Evidence).",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:19:31.245184+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC21B was added\ngene: TTC21B was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC21B were set to 33547761\nPhenotypes for gene: TTC21B were set to Heterotaxy\nReview for gene: TTC21B was set to RED\nAdded comment: Bi-allelic variants in this gene are associated with a range of ciliopathies.\r\n\r\nSingle family reported with two sibs, heterotaxy, and bi-allelic variants in this gene. One sib has additional ciliopathy features. \nSources: Literature",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:13:29.153595+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG6 as ready",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:13:29.143600+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:13:24.168080+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG6 as Amber List (moderate evidence)",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:13:24.158135+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:12:58.109709+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG6 was added\ngene: COG6 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG6 were set to 33394555; 32683677\nPhenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, MIM# 614576\nReview for gene: COG6 was set to AMBER\nAdded comment: <20 families reported with this type of CDG; two families with multi-system features including significant DSD. \nSources: Literature",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:09:06.440831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent. Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferring isoforms recorded creating confusion about whether it represents a distinct entity.; to: More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent. Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferrin isoforms recorded creating confusion about whether it represents a distinct entity.",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:06:44.527348+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to Intellectual disability; Epilepsy",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:06:12.846440+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD7A were set to PMID: 31997314; 29395075; 29395074",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:05:44.191877+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTUD7A as Amber List (moderate evidence)",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:05:44.181895+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:05:15.705497+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTUD7A: Added comment: Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.; Changed rating: AMBER; Changed publications: 31997314, 29395075, 29395074, 33381903; Changed phenotypes: Intellectual disability, Epilepsy",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:04:26.344204+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, no OMIM# yet to Intellectual disability; Epilepsy",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:03:46.075205+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD7A were set to PMID: 31997314",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:02:00.338901+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTUD7A as Amber List (moderate evidence)",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:02:00.327504+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:01:19.605456+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTUD7A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31997314, 29395075, 29395074, 33381903; Phenotypes: Intellectual disability, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T11:59:54.355950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to Intellectual disability; Epilepsy",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T11:59:34.012771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T11:59:10.031322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTUD7A as Amber List (moderate evidence)",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T11:59:10.021604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T11:58:35.447420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTUD7A: Changed phenotypes: Intellectual disability, Epilepsy",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-05T11:58:15.776467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTUD7A: Added comment: Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.; Changed rating: AMBER; Changed publications: 31997314, 29395075, 29395074, 33381903",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:47:32.901781+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP85 as ready",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:47:32.890317+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup85 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:47:29.428762+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP85 as Amber List (moderate evidence)",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:47:29.417215+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup85 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:47:04.717970+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP85 was added\ngene: NUP85 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP85 were set to 34170319\nPhenotypes for gene: NUP85 were set to Primary microcephaly\nReview for gene: NUP85 was set to AMBER\nAdded comment: Bi-allelic variants in this gene are associated with nephrotic syndrome in 3 families.\r\n\r\nPhenotypic expansion:\r\nPMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle. \nSources: Literature",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:45:19.409741+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP85 as Amber List (moderate evidence)",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:45:19.397916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup85 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:44:33.150989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP85 was added\ngene: NUP85 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP85 were set to 34170319; 30179222\nPhenotypes for gene: NUP85 were set to Intellectual disability\nReview for gene: NUP85 was set to AMBER\nAdded comment: Bi-allelic variants in this gene are associated with nephrotic syndrome in 3 families.\r\n\r\nPhenotype expansion:\r\n\r\nPMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle. \r\n\r\nPMID: 30179222 - Braun et al 2018 - 2 individuals from 1 of the families reported with steroid-resistant nephrotic syndrome were also reported to have intellectual disability but showed no structural brain defects. The degree of intellectual disability is not stated. They were found to have 2 compound heterozygous alleles (c.405+1G>A and c.1741G>C, p.Ala581Pro) in NUP85. \nSources: Literature",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:38:49.370272+11:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB2 as ready",
"entity_name": "GNB2",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:38:49.359973+11:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb2 has been classified as Red List (Low Evidence).",
"entity_name": "GNB2",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:38:38.089410+11:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB2 was added\ngene: GNB2 was added to Vascular Malformations_Somatic. Sources: Literature\nsomatic tags were added to gene: GNB2.\nMode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNB2 were set to 34124757\nPhenotypes for gene: GNB2 were set to Sturge-Weber syndrome, somatic, mosaic\nMode of pathogenicity for gene: GNB2 was set to Other\nReview for gene: GNB2 was set to RED\nAdded comment: PMID: 34124757 Fjaer et al 2021 report 1 case of a patient with phenotypic features of Sturge–Weber syndrome (skin legion on left eyelid, nose and brow, mild intellectual disability, refractory eplipsy, left-sided leptomeningeal vascular malformation and atrophy, no eye abnormality) and a variant in GNB2 (NM_005273.3):c.232A>G:p.Lys78Glu, which was present in 6% of the reads from the lesional dermis and 21% of the reads in an endothelial culture from the biopsy, but only present at 0.15% of the reads in non-lesional dermis. The patient was negative for the GNAQ R183Q variant more frequently associated with Sturge–Weber syndrome. \nSources: Literature",
"entity_name": "GNB2",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:35:08.432228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNAQ.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:34:33.861912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAQ as ready",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:34:33.846205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnaq has been classified as Green List (High Evidence).",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:34:24.054454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:34:03.170881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAQ were set to ",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:33:40.192159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GNAQ was changed from to Other",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:33:23.682838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAQ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-04T17:33:07.320800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161; Phenotypes: Sturge-Weber syndrome, somatic, mosaic 185300, Capillary malformations, congenital, 1, somatic, mosaic 163000, Phacomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:39:33.135618+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-11-04T16:38:48.160325+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-11-04T16:35:34.140548+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:35:34.121825+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Red List (Low Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:35:31.565730+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from Congenital Obesity to Bardet-Biedl syndrome 15, MIM# 615992",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:35:23.507065+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to 26518167",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:35:01.893512+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDPCP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:34:37.168975+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM32 as ready",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:34:37.156078+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim32 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:34:35.104324+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM32 were changed from ?Bardet-Biedl syndrome 11; 615988 to Bardet-Biedl syndrome 11, MIM# 615988",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:34:26.892064+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM32 were set to ",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:33:47.593118+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRAP2 as ready",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:33:47.579919+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrap2 has been classified as Red List (Low Evidence).",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:33:45.085119+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRAP2 were changed from Prader-Willi syndrome; obesity; {?Obesity, susceptibility to, BMIQ18} to Susceptibility to obesity, MIM#615457",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:33:35.620659+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRAP2 were set to 26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn).; 27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. \"In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations.\" \"We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data.\"; 23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X)",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:32:06.320351+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:32:06.307382+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:32:04.318476+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991 to Bardet-Biedl syndrome 14, MIM# 615991",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:31:53.675402+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP290 as Green List (high evidence)",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:31:53.666161+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:30:35.702193+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPARG as ready",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:30:35.691943+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pparg has been classified as Red List (Low Evidence).",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:30:29.996455+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPARG were changed from [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338 to Obesity, severe, MIM#601665",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:30:15.949287+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPARG were set to ",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:30:08.269984+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPARG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:28:54.324808+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR0B2 as ready",
"entity_name": "NR0B2",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:28:54.315423+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b2 has been classified as Red List (Low Evidence).",
"entity_name": "NR0B2",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:28:51.881854+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR0B2 were changed from Congenital Obesity; Obesity, mild, early-onset, 601665 to Obesity, mild, early-onset MIM#601665",
"entity_name": "NR0B2",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:28:39.365587+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR0B2 were set to ",
"entity_name": "NR0B2",
"entity_type": "gene"
},
{
"created": "2021-11-04T16:28:31.496456+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR0B2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR0B2",
"entity_type": "gene"
}
]
}