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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=740",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=738",
"results": [
{
"created": "2022-09-27T16:55:38.014322+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAD2L2 as Red List (low evidence)",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:55:37.991437+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mad2l2 has been classified as Red List (Low Evidence).",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:53:54.639345+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:53:14.984575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:52:37.899773+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:52:15.609772+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:37:54.088779+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP4 as ready",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:37:54.063771+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp4 has been classified as Red List (Low Evidence).",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:37:45.515802+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC to Cutis laxa, autosomal recessive, type IC (MIM# 613177)",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:37:31.520001+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LTBP4 as Red List (low evidence)",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:37:31.509669+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp4 has been classified as Red List (Low Evidence).",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:37:17.748790+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LTBP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM# 613177); Mode of inheritance: None",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:29:15.592733+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRTOMT as ready",
"entity_name": "LRTOMT",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:29:15.580715+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrtomt has been classified as Green List (High Evidence).",
"entity_name": "LRTOMT",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:29:11.523764+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRTOMT were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 63, MIM# 611451",
"entity_name": "LRTOMT",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:28:20.744553+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRC6 as ready",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:28:20.735383+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc6 has been classified as Red List (Low Evidence).",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:28:16.194341+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC6 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 19, MIM# 614935",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:28:02.913418+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRRC6 as Red List (low evidence)",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:28:02.903485+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc6 has been classified as Red List (Low Evidence).",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:27:50.305399+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRRC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:27:35.622698+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.248",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: None",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:26:30.837446+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRSAM1 as ready",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:26:30.828742+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrsam1 has been classified as Red List (Low Evidence).",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:26:26.170498+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRSAM1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:26:16.228606+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRSAM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:26:05.492746+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRSAM1 as Red List (low evidence)",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:26:05.476931+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrsam1 has been classified as Red List (Low Evidence).",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:25:09.457611+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRPPRC as ready",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:25:09.443485+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Red List (Low Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:25:04.894705+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRPPRC were changed from Leigh syndrome to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:24:52.817503+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRPPRC as Red List (low evidence)",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:24:52.809314+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Red List (Low Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:24:40.750757+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRPPRC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:23:13.414751+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP5 as ready",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:23:13.402088+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Green List (High Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:23:07.327219+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome to Osteoporosis-pseudoglioma syndrome, MIM# 259770",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:22:51.784967+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:22:29.345091+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: LRP5.",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:22:17.464519+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:21:49.014239+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.241",
"user_name": "David Amor",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association: strong but rare. \r\n\r\nOnset: birth\r\n\r\nTreatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?; to: Gene-disease association: strong but rare. \r\n\r\nOnset: birth\r\n\r\nTreatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:20:37.358970+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.241",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Combine FV and FVIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:19:04.996379+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP4 as ready",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:19:04.987827+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp4 has been classified as Green List (High Evidence).",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:19:00.934911+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304 to Myasthenic syndrome, congenital, 17 , MIM#616304",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:18:41.827696+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: LRP4.",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:18:10.282980+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:13:25.400304+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP2 as ready",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:13:25.392008+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Red List (Low Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:13:14.197112+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome, MIM#222448",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:13:01.379898+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRP2 as Red List (low evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:13:01.370829+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Red List (Low Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:12:49.115557+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:11:52.150961+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LOXHD1 as ready",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:11:52.142116+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: loxhd1 has been classified as Green List (High Evidence).",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:11:48.092342+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LOXHD1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 77, MIM# 613079",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:11:34.099793+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.237",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial glucocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:11:30.389372+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77, MIM# 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:07:07.890960+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:07:07.876914+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Red List (Low Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:07:02.476361+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from Nail patella syndrome to Nail-patella syndrome, MIM# 161200, MONDO:0008061",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:06:49.400126+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMX1B as Red List (low evidence)",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:06:49.391620+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Red List (Low Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:06:37.949288+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:04:46.642866+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMOD3 as ready",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:04:46.630018+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Red List (Low Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:04:41.677434+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMOD3 were changed from Nemaline myopathy to Nemaline myopathy 10, MIM# 616165",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:04:29.213546+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMOD3 as Red List (low evidence)",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:04:29.202874+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Red List (Low Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:04:12.888107+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMOD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:03:00.971805+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LMBRD1.",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:02:38.313183+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LMBRD1.",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:02:06.724041+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMBRD1 as ready",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:02:06.713214+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:01:48.642907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LMBRD1.",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:01:33.028290+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LMBRD1.",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:01:21.595733+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:59:43.679422+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LITAF as ready",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:59:43.670482+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: litaf has been classified as Red List (Low Evidence).",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:59:39.583742+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LITAF were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1C, MIM# 601098",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:59:17.575388+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: LITAF was changed from to None",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:59:05.667014+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LITAF as Red List (low evidence)",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:59:05.659278+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: litaf has been classified as Red List (Low Evidence).",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:58:24.662062+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPA as ready",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:58:24.645434+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipa has been classified as Green List (High Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:58:19.826190+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPA were changed from Wolman syndrome, MIM#278000 to Wolman syndrome, MIM#278000",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:57:42.482681+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LIPA.",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:57:11.984606+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LIPA.",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:56:22.031130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LIPA.",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:56:11.754006+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LIPA.",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:56:01.151256+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:53:50.713433+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LIG4.",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:52:27.788850+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LIG4.",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:52:02.928234+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:52:02.918559+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2022-09-27T14:44:04.149277+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SHOX was added\ngene: SHOX was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: SHOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHOX were set to 29330548\nPhenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700\nReview for gene: SHOX was set to GREEN\nAdded comment: Deletions common. Pseudoautosomal dominant inheritance as SHOX gene located on the pseudoautosomal region of X and Y chromosome.\r\n\r\nPMID 29330548 report 5 unrelated infants with antenatally detected isolated short long bones attributable to SHOX haploinsufficiency. \nSources: Expert list, Literature",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-09-27T14:29:05.195715+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SLC10A7 was added\ngene: SLC10A7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A7 were set to 30082715\nPhenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363\nReview for gene: SLC10A7 was set to GREEN\nAdded comment: Prenatal diagnosis of short long bones reported in addition to IUGR disproportionately impacting length. \nSources: Literature, Expert list",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-09-27T14:09:34.102634+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SLC29A3 was added\ngene: SLC29A3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC29A3 were set to 16155931\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome - MIM#602782\nReview for gene: SLC29A3 was set to GREEN\nAdded comment: Intrauterine fractures of long bones and clavicles described. \nSources: Literature, Expert list",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:49:04.096415+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SMAD4 was added\ngene: SMAD4 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD4 were set to 28406602\nPhenotypes for gene: SMAD4 were set to Myhre syndrome - OMIM#139210; MONDO:0007688\nReview for gene: SMAD4 was set to GREEN\nAdded comment: Myhre syndrome (variants involving codons 496 and 500) can be associated with IUGR and short long bones \nSources: Expert list, Literature",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:40:27.610939+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCAL1 were set to 15523612; 20301550; 20301550; 17089404; 20036229\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia (MIM#242900)\nReview for gene: SMARCAL1 was set to GREEN\nAdded comment: IUGR with disproportionately short trunk and neck described. \nSources: Expert list, Literature",
"entity_name": "SMARCAL1",
"entity_type": "gene"
}
]
}