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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=707",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=705",
"results": [
{
"created": "2022-10-31T10:05:03.743183+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CBS as Amber List (moderate evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-10-31T10:05:03.734953+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cbs has been classified as Amber List (Moderate Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-10-31T10:04:55.149590+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CBS was added\ngene: CBS was added to Pneumothorax. Sources: Expert list\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBS were set to 2333882; 27229674; 9427154; 30681372\nPhenotypes for gene: CBS were set to Classic homocystinuria MONDO:0009352\nReview for gene: CBS was set to AMBER\nAdded comment: The prevalence of spontaneous pneumothorax as a feature of homocystinuria is unknown. It appears to be very rare. There are 3 unrelated patients reported in the literature, one presented with spontaneous pneumothorax. \nSources: Expert list",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-10-30T12:03:06.771904+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.697",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SH2D1A as ready",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-10-30T12:03:06.762682+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.697",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sh2d1a has been classified as Green List (High Evidence).",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-10-30T12:03:02.768421+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.697",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SH2D1A were changed from Lymphoproliferative syndrome, MIM#308240 to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-10-30T12:02:50.947850+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.696",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SH2D1A were set to ",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-10-30T12:02:35.869726+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.695",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-10-30T11:50:22.002928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.695",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGSH as ready",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-10-30T11:50:21.993599+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.695",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Red List (Low Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-10-30T11:50:13.774817+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.695",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A) to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-10-30T11:50:04.088517+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.694",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SGSH as Red List (low evidence)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-10-30T11:50:04.077083+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.694",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Red List (Low Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-10-30T11:49:50.969090+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.693",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGSH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:08:20.049351+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.693",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGCB as ready",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:08:20.039982+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.693",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgcb has been classified as Red List (Low Evidence).",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:08:13.022804+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.693",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGCG as ready",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:08:13.013882+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.693",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgcg has been classified as Red List (Low Evidence).",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:08:10.331206+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.693",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:55.413517+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.692",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGCD as ready",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:55.402723+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.692",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgcd has been classified as Red List (Low Evidence).",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:50.992549+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.692",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, type 2C to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:39.416818+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.691",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SGCB as Red List (low evidence)",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:39.409116+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.691",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgcb has been classified as Red List (Low Evidence).",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:29.964375+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.690",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SGCD as Red List (low evidence)",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:29.956830+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.690",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgcd has been classified as Red List (Low Evidence).",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:20.983736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.689",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SGCG as Red List (low evidence)",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:07:20.974345+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.689",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgcg has been classified as Red List (Low Evidence).",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:06:59.677344+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.688",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:06:40.215784+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.688",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-10-29T20:06:18.284565+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.688",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-10-29T19:59:50.197910+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.688",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGCA as ready",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-10-29T19:59:50.185940+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.688",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgca has been classified as Red List (Low Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-10-29T19:59:42.295556+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.688",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-10-29T19:59:32.875994+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.687",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SGCA as Red List (low evidence)",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-10-29T19:59:32.868857+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.687",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgca has been classified as Red List (Low Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-10-29T19:59:06.775976+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.686",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:23:17.941921+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2CD3 as ready",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:23:17.928850+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd3 has been classified as Green List (High Evidence).",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:23:14.456598+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:22:55.233615+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C2CD3 were set to ",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:22:23.596499+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:21:29.949692+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf2 as ready",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:21:29.941200+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf2 has been classified as Green List (High Evidence).",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:21:27.500513+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:20:58.018288+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf2 were set to ",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:20:31.334398+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:18:38.551098+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOCS1 were set to 33087723",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:17:45.684110+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR1 as ready",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:17:45.675201+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr1 has been classified as Green List (High Evidence).",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:17:41.420753+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGFR1 were set to ",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:17:04.907443+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGFR1 as Green List (high evidence)",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:17:04.898726+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr1 has been classified as Green List (High Evidence).",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:14:02.785414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGL2 as ready",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:14:02.774037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:13:52.935665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGL2 as Amber List (moderate evidence)",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:13:52.927882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:13:30.506332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGL2 was added\ngene: FGL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGL2 were set to 36243222\nPhenotypes for gene: FGL2 were set to Autoinflammatory syndrome, MONDO:0019751, FGL2-related\nReview for gene: FGL2 was set to AMBER\nAdded comment: Child with early onset systemic inflammation, autoantibodies, and vasculitis. Homozygous truncating variant, functional studies include rescue experiments. \nSources: Literature",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:11:46.556250+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGL2 as ready",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:11:46.548488+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:11:39.558405+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGL2 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, FGL2-related",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:11:05.379323+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGL2 as Amber List (moderate evidence)",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:11:05.371390+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:10:32.639270+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: FGL2: Homozygous truncating variant, functional studies include rescue experiments.",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:10:08.115511+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGL2: Changed rating: AMBER",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T18:09:24.163059+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, FGL2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T17:46:46.646386+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Pneumothorax; HP:0002107",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-28T17:46:10.451551+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXTL3 as ready",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2022-10-28T17:46:10.439607+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: extl3 has been classified as Green List (High Evidence).",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2022-10-28T17:45:57.927086+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXTL3 as Green List (high evidence)",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2022-10-28T17:45:57.916051+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: extl3 has been classified as Green List (High Evidence).",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2022-10-28T15:58:32.273163+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.160",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: SOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35976468; Phenotypes: Early onset autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2022-10-28T15:50:20.539141+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.154",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T15:50:15.100402+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.154",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: FGFR1: Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.; Changed publications: PMID: 16470795, PMID: 15625620, PMID: 29147600, PMID: 20339250",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T15:48:21.050901+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.154",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg. \nSources: Literature; to: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg. \r\nSources: Literature",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T15:48:12.722763+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.154",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia-MIM#166250\nReview for gene: FGFR1 was set to GREEN\nAdded comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg. \nSources: Literature",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T15:45:14.069692+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.160",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: FGL2 was added\ngene: FGL2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGL2 were set to PMID: 36243222\nPhenotypes for gene: FGL2 were set to Immune dysregulation\nReview for gene: FGL2 was set to RED\nAdded comment: Child with early onset systemic inflammation, autoantibodies, and vasculitis with supportive functional data \nSources: Literature",
"entity_name": "FGL2",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:35:57.263274+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "HPO terms changed from to Pneumothorax, HP:0002107\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-28T10:26:37.921722+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD3 was added\ngene: SMAD3 was added to Pneumothorax. Sources: Expert list,Expert Review Amber,NHS GMS\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMAD3 were set to 25006744; 26493799; 15591413; 23161884\nPhenotypes for gene: SMAD3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.877881+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD2 was added\ngene: SMAD2 was added to Pneumothorax. Sources: Expert Review Amber,NHS GMS\nMode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMAD2 were set to 29392890; 26247899; 29707331\nPhenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome,MONDO:0018954\nMode of pathogenicity for gene: SMAD2 was set to Other",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.825418+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TSC2 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001\nPhenotypes for gene: TSC2 were set to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.758302+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TSC1 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001\nPhenotypes for gene: TSC1 were set to Tuberous sclerosis-1, OMIM:191100; Lymphangioleiomyomatosis, OMIM:606690",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.702030+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGFBR2 were set to 25006744; 26493799; 15591413; 23161884\nPhenotypes for gene: TGFBR2 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.661396+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884\nPhenotypes for gene: TGFBR1 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.621955+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFB3 was added\ngene: TGFB3 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS\nMode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGFB3 were set to 15591413; 25006744; 25835445; 24577266; 26493799; 23161884\nPhenotypes for gene: TGFB3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.577990+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFB2 was added\ngene: TGFB2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS\nMode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGFB2 were set to 25006744; 26493799; 15591413; 23161884\nPhenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, OMIM:614816; Pulmonary emphysema, MONDO:0004849",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.523970+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERPINA1 was added\ngene: SERPINA1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS\nMode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINA1 were set to 27229674; 22215832; 18619132; 22544422\nPhenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490; Emphysema due to AAT deficiency, OMIM:613490",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.480423+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLCN was added\ngene: FLCN was added to Pneumothorax. Sources: Literature,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,NHS GMS,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FLCN were set to 19483054; 15852235; 26928018; 15657874; 21550484; 15805188; 12204536\nPhenotypes for gene: FLCN were set to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.411892+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FBN1 was added\ngene: FBN1 was added to Pneumothorax. Sources: Eligibility statement prior genetic testing,Expert list,Expert Review Green,NHS GMS\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FBN1 were set to 12598898; 1864149; 11786720; 2595640; 15161620; 25765122\nPhenotypes for gene: FBN1 were set to Marfan syndrome, OMIM:154700",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.362504+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS\nMode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL3A1 were set to 25940258; 9147885; 7369469; 26666608\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, OMIM:130050",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-10-28T10:26:37.333637+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Pneumothorax",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-28T09:27:35.581245+11:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SP6 were changed from Amelogenesis Imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2022-10-28T09:27:25.768624+11:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SP6: Changed phenotypes: Amelogenesis imperfecta, type IK, MIM# 620104",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2022-10-28T09:26:52.000051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SP6 were changed from hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2022-10-28T09:26:29.532813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SP6: Changed phenotypes: Amelogenesis imperfecta, type IK, MIM# 620104",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2022-10-28T09:24:48.829149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKBP6 were changed from Spermatogenic failure (MONDO:0004983), FKBP6-related to Spermatogenic failure 77, MIM# 620103",
"entity_name": "FKBP6",
"entity_type": "gene"
},
{
"created": "2022-10-28T09:24:24.569856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKBP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 77, MIM# 620103; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP6",
"entity_type": "gene"
},
{
"created": "2022-10-27T19:39:32.398118+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.154",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EXTL3 was added\ngene: EXTL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXTL3 were set to PMID: 28132690\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425\nReview for gene: EXTL3 was set to GREEN\nAdded comment: Disproportionate short stature with limb shortening and death in the neonatal period reported. \nSources: Literature",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2022-10-27T18:23:23.069275+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COL13A1.",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2022-10-27T18:22:57.067435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COL13A1.",
"entity_name": "COL13A1",
"entity_type": "gene"
}
]
}