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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1342",
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"results": [
{
"created": "2021-04-24T11:29:40.733695+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:29:30.795958+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCC were changed from to Fanconi anaemia, complementation group C, MIM# 227645; MONDO:0009213",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:28:59.901376+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCC were set to ",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:28:37.909040+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:27:54.609507+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:27:54.598950+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:27:52.249137+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from to Fanconi aanemia, complementation group Q, MIM# 615272; MONDO:0014108",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:27:29.981270+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC4 were set to ",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:27:01.499172+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:26:30.061326+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC4: Changed phenotypes: Fanconi aanemia, complementation group Q, MIM# 615272, MONDO:0014108",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:26:12.372107+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:26:06.456507+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC4: Added comment: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects.; Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:22:49.739260+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:22:49.726582+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:22:46.374774+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:22:14.542450+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:21:39.639642+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:21:39.628488+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:21:36.449655+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from to Fanconi anaemia, complementation group D1, MIM# 605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:20:54.639842+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:20:24.300345+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRCA2: Changed phenotypes: Fanconi anaemia, complementation group D1, MIM# 605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:18:47.946388+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-24T11:17:14.932480+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPC as ready",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:17:14.912667+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpc has been classified as Green List (High Evidence).",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:17:12.072760+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XPC were changed from to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:16:43.215073+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XPC were set to ",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:16:20.014528+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XPC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:15:48.136967+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPA as ready",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:15:48.126851+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpa has been classified as Green List (High Evidence).",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:15:39.559045+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:15:12.446017+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XPA were set to ",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:14:44.017486+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:13:46.793373+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYR as ready",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:13:46.782423+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyr has been classified as Red List (Low Evidence).",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:13:43.698630+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:13:18.827557+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TYR as Red List (low evidence)",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:13:18.817858+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyr has been classified as Red List (Low Evidence).",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:12:54.227465+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100; Mode of inheritance: None",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:12:04.205423+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RECQL4 were set to 12838562; 10319867; 20503338; 18716613; 18616953",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:10:58.679536+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:10:58.668883+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:10:47.859320+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:10:19.911716+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC8 were set to ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:09:56.842064+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:09:21.138247+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:09:21.095760+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:09:17.797027+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from to Cerebrooculofacioskeletal syndrome 1, MIM# 214150; MONDO:0008955; Cockayne syndrome, type B, MIM# 133540; MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800; MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630; MONDO:0010909",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:08:48.024889+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:08:19.534391+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:08:19.519398+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:08:16.175908+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:07:41.455253+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to ",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:07:18.698748+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:06:48.839339+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, spectrum of severity, including antenatal presentation with arthrogryposis.; to: Well established gene-disease association, spectrum of severity, photosensitivity is a feature.",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:06:26.052776+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:06:26.039939+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:06:22.682865+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from to Fanconi anaemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:05:35.708157+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC4 were set to ",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:05:07.517579+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:04:28.655744+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:04:28.645306+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:04:25.703240+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:03:53.296468+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC3 were set to ",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:03:23.584776+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-24T11:02:58.743793+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Nucleotide excision repair disorder, variable severity.; to: Nucleotide excision repair disorder, variable severity, photosensitivity is a feature.",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:37:56.014522+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC1 as ready",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:37:56.004898+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc1 has been classified as Green List (High Evidence).",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:37:53.653134+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:37:31.680443+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC1 were set to ",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:37:08.766617+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:35:15.402141+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-24T08:35:04.226073+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TYR from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-24T08:33:57.369533+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:33:57.358201+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:31:22.045058+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKP as ready",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:31:22.029798+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkp has been classified as Green List (High Evidence).",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:31:12.360999+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNKP as Green List (high evidence)",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:31:12.351874+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkp has been classified as Green List (High Evidence).",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:30:48.677954+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNKP was added\ngene: PNKP was added to Chromosome Breakage Disorders. Sources: Expert Review\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNKP were set to 20118933; 25728773\nPhenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, MIM#\t616267; Microcephaly, seizures, and developmental delay, MIM#\t613402\nReview for gene: PNKP was set to GREEN\nAdded comment: Enzyme involved in DNA repair.\r\n\r\nAtaxia-oculomotor apraxia 4, MIM#\t616267 typically has onset in first decade, whereas Microcephaly, seizures, and developmental delay, MIM#\t613402 is congenital. \nSources: Expert Review",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:25:08.824283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HELLS as ready",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:25:08.814400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hells has been classified as Green List (High Evidence).",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:25:01.054023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HELLS were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911; MONDO:0014829",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:24:43.473265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HELLS were set to ",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:24:26.784212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HELLS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:24:08.879191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HELLS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216346; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911, MONDO:0014829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:23:23.178786+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HELLS as ready",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:23:23.168154+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hells has been classified as Green List (High Evidence).",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:23:18.530242+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HELLS as Green List (high evidence)",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:23:18.520672+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hells has been classified as Green List (High Evidence).",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:22:49.393179+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HELLS was added\ngene: HELLS was added to Chromosome Breakage Disorders. Sources: Expert Review\nMode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HELLS were set to 26216346\nPhenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#\t616911; MONDO:0014829\nReview for gene: HELLS was set to GREEN\nAdded comment: Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable.\r\n\r\nAt least 4 unrelated families reported. \nSources: Expert Review",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:20:28.380781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB24 as ready",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:20:28.368658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:20:14.119093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB24 were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:19:51.894081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB24 were set to ",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:19:29.565887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZBTB24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:19:02.762566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: 21596365, 21906047, 23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069, MONDO:0013553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:18:05.300199+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB24 as ready",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:18:05.286885+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:17:31.973846+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB24 as Green List (high evidence)",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-04-24T08:17:31.964333+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
}
]
}