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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1828",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1826",
"results": [
{
"created": "2020-04-21T10:31:31.570633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:31:31.562031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:31:17.644367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:31:10.587932+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15467982; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:30:50.092405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1A were set to ",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:27:32.691062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:25:50.441790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WARS as ready",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:25:50.421929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars has been classified as Green List (High Evidence).",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:25:39.717921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WARS as Green List (high evidence)",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:25:39.704172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars has been classified as Green List (High Evidence).",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:24:40.334377+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1B as Green List (high evidence)",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:24:40.326101+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:24:24.189518+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1B as ready",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:24:24.175861+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:24:18.340156+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1B as Green List (high evidence)",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:24:18.326805+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:23:48.080606+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1B was added\ngene: POLR1B was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR1B were set to 31649276\nPhenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4\nReview for gene: POLR1B was set to GREEN\nAdded comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003 \nSources: Literature",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:22:23.704127+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1B as ready",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:22:23.694724+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:22:18.959797+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1B as Green List (high evidence)",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:22:18.942897+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:21:50.373646+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1B was added\ngene: POLR1B was added to Pierre Robin Sequence. Sources: Literature\nMode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR1B were set to 31649276\nPhenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4\nReview for gene: POLR1B was set to GREEN\nAdded comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003 \nSources: Literature",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:19:51.089522+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1B as ready",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:19:51.080342+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:19:46.589712+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1B as Green List (high evidence)",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:19:46.577063+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:19:17.724120+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1B was added\ngene: POLR1B was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature\nMode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR1B were set to 31649276\nPhenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4\nReview for gene: POLR1B was set to GREEN\nAdded comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003 \nSources: Literature",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:17:24.583017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome to Treacher-Collins syndrome type 4",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:16:36.704166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1B as ready",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:16:36.694822+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:16:27.896894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1B were changed from bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations to Treacher-Collins syndrome",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:15:57.492263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1B as Green List (high evidence)",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:15:57.483920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1b has been classified as Green List (High Evidence).",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:15:35.935273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model. Note four of the families had missense variants affecting same residue, p.Arg1003",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:14:20.460144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Six unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model.",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:12:53.432622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31649276; Phenotypes: Treacher-Collins syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR1B",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:11:09.663585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35D1 as ready",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:11:09.654488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35d1 has been classified as Green List (High Evidence).",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:11:01.565434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia, MIM 269250",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:10:44.667363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35D1 were set to ",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:10:25.529833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:07:35.131459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1orf194 as ready",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:07:35.125618+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model.",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:07:35.083376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf194 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:06:42.207797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C1orf194 was changed from None to Other",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:05:56.395204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1orf194 as Amber List (moderate evidence)",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:05:56.381971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf194 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:00:16.285120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REC114 as ready",
"entity_name": "REC114",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:00:16.271692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rec114 has been classified as Green List (High Evidence).",
"entity_name": "REC114",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:59:58.563087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REC114 as Green List (high evidence)",
"entity_name": "REC114",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:59:58.554200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rec114 has been classified as Green List (High Evidence).",
"entity_name": "REC114",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:57:27.554716+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA2 as ready",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:57:27.542843+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:57:26.186140+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBA2 as Amber List (moderate evidence)",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:57:26.172109+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:53:30.753799+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBA2 was added\ngene: UBA2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBA2 were set to 31332306; 31587267\nPhenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly\nReview for gene: UBA2 was set to AMBER\nAdded comment: PMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC. \nSources: Literature",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:51:35.118101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA2 as ready",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:51:35.105877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:49:52.138308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBA2 as Amber List (moderate evidence)",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:49:52.129261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:44:47.568950+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:44:47.559824+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:44:44.360571+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIM1 were changed from to Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:44:16.150699+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIM1 were set to ",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:43:52.368999+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:43:22.151587+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332920, 31448844; Phenotypes: Myopathy, tubular aggregate, 1 160565, Stormorken syndrome 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:23:08.163245+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:23:08.149586+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:22:43.373332+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10, MIM# 612783",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:21:42.430347+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIM1 were set to ",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:21:15.845622+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STIM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:20:46.140065+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 10, MIM# 612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:15:29.565028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2489",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30637988; Phenotypes: ?Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:11:20.634273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2489",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:10:44.349335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:10:44.340626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:10:13.141203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10\t612783; Myopathy, tubular aggregate, 1\t160565; Stormorken syndrome\t185070",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:09:15.482765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIM1 were set to ",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:08:55.992088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: STIM1 was changed from to Other",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:08:38.043357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STIM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:07:43.295771+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORAI1 as ready",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:07:43.283474+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orai1 has been classified as Green List (High Evidence).",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:07:40.733255+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:07:11.710912+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ORAI1 were set to ",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:01:58.296693+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORAI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-21T09:01:26.667986+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 9, MIM# 612782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-20T22:18:39.388039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2485",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: MDM2: Rating: RED; Mode of pathogenicity: None; Publications: 28846075; Phenotypes: ?Lessel-Kubisch syndrome 618681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:19:19.750596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORAI1 as ready",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:19:19.741691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orai1 has been classified as Green List (High Evidence).",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:19:01.016335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM#\t612782; Myopathy, tubular aggregate, 2, MIM#\t615883",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:18:19.327478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ORAI1 were set to ",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:18:04.132485+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ORAI1 was changed from to Other",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:17:49.638694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORAI1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:16:59.992654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTTN as ready",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:16:59.983600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rttn has been classified as Green List (High Evidence).",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:16:51.304278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM#\t614833; Intellectual disability; cerebral polymicrogyria; primary microcephaly; growth defects; congenital anomalies",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:16:14.398975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTTN were set to ",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:15:56.214331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:14:54.567356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBAP1 as ready",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:14:54.555488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubap1 has been classified as Green List (High Evidence).",
"entity_name": "UBAP1",
"entity_type": "gene"
}
]
}