HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=751",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=749",
"results": [
{
"created": "2022-09-20T17:47:05.905552+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33974366; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:39:34.597895+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTN1 as ready",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:39:34.589716+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn1 has been classified as Red List (Low Evidence).",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:39:31.027423+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN1 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 15, MIM# 615193",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:39:19.896120+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTN1 as Red List (low evidence)",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:39:19.887784+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn1 has been classified as Red List (Low Evidence).",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:39:08.979080+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bleeding disorder, platelet-type, 15, MIM# 615193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:36:44.711655+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCG5.\nTag clinical trial tag was added to gene: ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:36:20.247183+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCG5.\nTag clinical trial tag was added to gene: ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:35:58.284094+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCG5 as ready",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:35:58.275911+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcg5 has been classified as Green List (High Evidence).",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:35:55.261736+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:35:41.212413+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:35:09.070569+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCG5.\nTag clinical trial tag was added to gene: ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:34:49.143510+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCG5.\nTag clinical trial tag was added to gene: ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:34:24.088877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCG5.\nTag clinical trial tag was added to gene: ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:34:07.538617+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCG5 as ready",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:34:07.525588+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcg5 has been classified as Green List (High Evidence).",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:33:57.112091+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:33:44.063169+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCG5.\nTag clinical trial tag was added to gene: ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:33:29.436469+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:29:02.755540+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:29:02.730166+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:28:57.728662+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ABCD1.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:28:08.816313+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy to Adrenoleukodystrophy, MIM# 300100",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:27:27.163170+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCD1.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-09-20T16:27:16.892054+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:33:03.752887+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:33:03.739431+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:32:58.553502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:32:42.140669+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nSevere disorder with onset in infancy, can be fatal.\r\n\r\nTreatment available: etidronate.; to: Well established gene-disease association.\r\n\r\nSevere disorder with onset in infancy, can be fatal.\r\n\r\nTreatment available: etidronate.\r\n\r\nHowever, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. \r\n\r\nThere are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:30:04.995047+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC6 were set to ",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:29:53.919358+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:28:49.173268+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33005041, 34355424; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:26:33.340268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850 to Arterial calcification, generalized, of infancy, 2, MIM# 614473; Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:26:15.417317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC6 were set to 11536079; 28102862",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:25:52.545778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:25:39.061435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABCC6: Added comment: GACI is a treatable disorder.; Changed rating: GREEN; Changed publications: 33005041, 34355424; Changed phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:23:21.427948+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC2 as ready",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:23:21.415179+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc2 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:23:13.724247+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCC2 as Red List (low evidence)",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:23:13.708198+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc2 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:23:01.654857+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:20:14.252052+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB4 as ready",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:20:14.243106+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:20:10.626013+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:19:58.956477+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:19:48.688163+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCB4 as Red List (low evidence)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:19:48.679368+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:19:35.533069+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism, Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:17:46.623595+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB11 as ready",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:17:46.613440+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:17:42.805986+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB11 were changed from Cholestasis, progressive familial intrahepatic 2 to Cholestasis, progressive familial intrahepatic 2, MIM# 601847; Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:17:17.467217+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCB11 as Red List (low evidence)",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:17:17.410850+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:17:02.748228+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:13:25.293496+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA4 as ready",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:13:25.279673+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca4 has been classified as Red List (Low Evidence).",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:13:22.034414+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCA4 were changed from Stargardt disease to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:13:10.915627+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCA4 as Red List (low evidence)",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:13:10.907368+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca4 has been classified as Red List (Low Evidence).",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:12:59.487136+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:11:30.304707+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA3 as ready",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:11:30.295151+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca3 has been classified as Red List (Low Evidence).",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:11:25.432169+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary, 3 to Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:11:08.697009+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCA3 as Red List (low evidence)",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:11:08.687142+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca3 has been classified as Red List (Low Evidence).",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:10:57.163993+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:09:36.408623+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA12 as ready",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:09:36.394815+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca12 has been classified as Red List (Low Evidence).",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:09:28.477226+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCA12 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:09:16.961342+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCA12 as Red List (low evidence)",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:09:16.951330+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca12 has been classified as Red List (Low Evidence).",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:09:05.700843+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCA12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:07:38.408304+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AARS as ready",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:07:38.395197+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars has been classified as Red List (Low Evidence).",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:07:26.134600+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth disease to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:07:14.709229+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:07:04.226688+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AARS as Red List (low evidence)",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:07:04.218252+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars has been classified as Red List (Low Evidence).",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-09-20T15:06:50.250694+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AARS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339, Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:45:19.937203+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UBA2 was added\ngene: UBA2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBA2 were set to 31332306; 31587267\nPhenotypes for gene: UBA2 were set to ACCES syndrome-MIM#619959\nReview for gene: UBA2 was set to GREEN\nAdded comment: Associated with skeletal anomalies amenable to antenatal detection including split hand/foot malformation, polydactyly and tibial deficiency. \nSources: Expert list, Literature",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:39:46.049891+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Reported skeletal anomalies reported not detectable in the prenatal setting. \nSources: Expert list, Literature; to: Reported skeletal anomalies not detectable in the prenatal setting. \r\nSources: Expert list, Literature",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:39:34.303394+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UFSP2 was added\ngene: UFSP2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: UFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UFSP2 were set to 26428751; 28892125; 32755715\nPhenotypes for gene: UFSP2 were set to Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974\nReview for gene: UFSP2 was set to RED\nAdded comment: Reported skeletal anomalies reported not detectable in the prenatal setting. \nSources: Expert list, Literature",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:31:17.955741+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.69",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:31:13.949358+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: USP9X was added\ngene: USP9X was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: USP9X were set to 31443933; 26833328\nPhenotypes for gene: USP9X were set to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)\nReview for gene: USP9X was set to GREEN\nAdded comment: Associated with skeletal anomalies - postaxial polydactyly may be detected on antenatal USS.\r\n---\r\nGene-disease relationship is well-established. There are XLD (female-restricted) and XLR phenotypes.\r\n\r\nMany (at least 17) females with de novo loss-of-function variants reported with a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations (PMID:26833328). Males are not reported with these variants (presumed embryonic lethal, as is the case in null mice).\r\n\r\nAffected males (at least 12) have been reported with partial loss of function missense variants (PMID:31443933). Unaffected female carriers were reported in some of these families. \nSources: Expert list, Literature",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:27:45.318709+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.69",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); 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": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:23:46.036714+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: VDR was added\ngene: VDR was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA - MIM#277440\nReview for gene: VDR was set to RED\nAdded comment: Vitamin D-resistant rickets not presenting antenatally. \nSources: Literature",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:19:35.856119+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: WDPCP was added\ngene: WDPCP was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDPCP were set to 20671153; 25427950; 32055034; 29588463; 28289185\nPhenotypes for gene: WDPCP were set to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085\nReview for gene: WDPCP was set to GREEN\nAdded comment: Associated with ciliopathy phenotype, including skeletal anomalies such as polydactyly amenable to antenatal USS detection. \nSources: Expert list, Literature",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2022-09-20T10:04:55.678108+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: WISP3 was added\ngene: WISP3 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WISP3 were set to 26610319\nPhenotypes for gene: WISP3 were set to Progressive pseudorheumatoid dysplasia-MIM#208230\nReview for gene: WISP3 was set to RED\nAdded comment: CCN6 HGNC approved name. Progressive childhood onset disorder. Prenatal features not described. \nSources: Literature",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2022-09-20T09:42:19.178446+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: WNT10B was added\ngene: WNT10B was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT10B were set to 20635353; 24211389; 27321946\nPhenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 - MIM#225300\nReview for gene: WNT10B was set to GREEN\nAdded comment: Biallelic variants associated with split hand/foot malformation. Reported in >3 unrelated families, with a Pakistani bias. Detectable on antenatal ultrasound. \nSources: Expert list, Literature",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2022-09-20T09:39:26.754638+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: WNT5A was added\ngene: WNT5A was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WNT5A were set to 17256787\nPhenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1; OMIM# 180700\nReview for gene: WNT5A was set to GREEN\nAdded comment: Associated mesomelic/rhizomelic can be detected prenatally. \nSources: Expert list, Literature",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2022-09-20T09:36:22.121562+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: WNT7A was added\ngene: WNT7A was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT7A were set to 21344627; 20949531; 16826533\nPhenotypes for gene: WNT7A were set to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820\nReview for gene: WNT7A was set to GREEN\nAdded comment: Associated limb anomalies amenable to prenatal detection \nSources: Literature",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2022-09-20T08:00:55.598402+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.164",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: DPP9 was added\ngene: DPP9 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPP9 were set to PMID: 36112693\nPhenotypes for gene: DPP9 were set to recurrent fevers; repeated infections; herpes susceptibility; cytopaenias\nReview for gene: DPP9 was set to GREEN\nAdded comment: Three unrelated families with Hatipoğlu syndrome with biochemical and cellular assays, mouse and zebrafish models. Immunological features of recurrent fevers, repeated infections, herpes susceptibility, cytopaenias. \nSources: Literature",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-19T19:02:56.907885+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T19:02:56.898581+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aaas has been classified as Green List (High Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T19:02:51.283246+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome to Achalasia-addisonianism-alacrimia syndrome, MIM#231550",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T19:00:38.958072+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AAAS were set to ",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T19:00:29.373308+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: AAAS.",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T19:00:20.037899+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29255950; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AAAS",
"entity_type": "gene"
}
]
}