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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=746",
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"results": [
{
"created": "2022-09-23T11:30:35.984465+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs5 has been classified as Red List (Low Evidence).",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:30:28.050735+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 5, MIM#615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:30:16.825434+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBS5 as Red List (low evidence)",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:30:16.801571+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs5 has been classified as Red List (Low Evidence).",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:30:03.651142+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:28:31.934049+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS4 as ready",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:28:31.922994+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs4 has been classified as Red List (Low Evidence).",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:28:27.977605+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 4, MIM#615982",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:28:15.970345+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBS4 as Red List (low evidence)",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:28:15.944299+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs4 has been classified as Red List (Low Evidence).",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:28:03.967280+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:26:37.358059+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS2 as ready",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:26:37.345340+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs2 has been classified as Red List (Low Evidence).",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:26:33.947388+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 2, MIM# 615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:26:20.949320+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBS2 as Red List (low evidence)",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:26:20.939748+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs2 has been classified as Red List (Low Evidence).",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:26:08.880606+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:25:01.500537+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS12 as ready",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:25:01.447301+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs12 has been classified as Red List (Low Evidence).",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:24:58.019488+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS12 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 12, MIM# 615989",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:24:45.562911+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBS12 as Red List (low evidence)",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:24:45.548340+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs12 has been classified as Red List (Low Evidence).",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:24:33.435428+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:21:09.865125+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD6IP were changed from Primary microcephaly to Microcephaly 29, primary, autosomal recessive, MIM# 620047",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:20:54.110008+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:19:33.671539+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD6IP were changed from Primary microcephaly to Microcephaly 29, primary, autosomal recessive, MIM# 620047",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:18:57.802508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:18:30.445441+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD6IP were changed from Primary microcephaly to Microcephaly 29, primary, autosomal recessive, MIM# 620047",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:18:00.084210+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDCD6IP: Changed rating: AMBER; Changed phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:17:28.331287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD6IP were changed from Neurodevelopmental disorder MONDO:0700092; Microcephaly; intellectual disability to Microcephaly 29, primary, autosomal recessive, MIM# 620047; Microcephaly; intellectual disability",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:16:53.973908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDCD6IP: Changed phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047, Microcephaly, intellectual disability",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:16:41.794444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDCD6IP: Changed phenotypes: Microcephaly 29, primary, autosomal recessive , MIM# 620047, Microcephaly, intellectual disability",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-09-22T19:03:27.078238+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS10 as ready",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2022-09-22T19:03:27.066049+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs10 has been classified as Red List (Low Evidence).",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2022-09-22T19:03:16.794321+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS10 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 10, MIM# 615987",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2022-09-22T19:03:01.234559+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBS10 as Red List (low evidence)",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2022-09-22T19:03:01.223562+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs10 has been classified as Red List (Low Evidence).",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2022-09-22T19:02:49.868360+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 10, MIM# 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:43:04.763092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPP9 as ready",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:43:04.753598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp9 has been classified as Green List (High Evidence).",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:42:29.656640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPP9 as Green List (high evidence)",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:42:29.648386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp9 has been classified as Green List (High Evidence).",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:42:12.002936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPP9 was added\ngene: DPP9 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPP9 were set to 36112693\nPhenotypes for gene: DPP9 were set to Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias\nReview for gene: DPP9 was set to GREEN\nAdded comment: Three unrelated families with Hatipoğlu syndrome with biochemical and cellular assays, mouse and zebrafish models. Immunological features of recurrent fevers, repeated infections, herpes susceptibility, cytopenias. \nSources: Expert Review",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:39:26.881672+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPP9 as ready",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:39:26.871475+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp9 has been classified as Green List (High Evidence).",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:39:23.591764+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPP9 were changed from recurrent fevers; repeated infections; herpes susceptibility; cytopaenias to Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopaenias",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:38:22.862071+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPP9 as Green List (high evidence)",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:38:22.854190+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp9 has been classified as Green List (High Evidence).",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:35:12.256410+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to 22964162; 16541453; 32219868",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:34:54.370129+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AFG3L2 as Amber List (moderate evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:34:54.360607+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:31:41.518859+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from to Spinocerebellar ataxia 28, MIM# 610246; optic atrophy; spastic ataxia; L-dopa-responsive parkinsonism",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:31:19.795745+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:29:04.614377+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFG3L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:27:52.096492+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AFG3L2 as Amber List (moderate evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:27:52.088747+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:16:39.072791+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AFG3L2 as Amber List (moderate evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:16:39.063697+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T18:15:59.563765+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 28, MIM# 610246; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:39:07.071406+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS1 as ready",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:39:07.060647+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs1 has been classified as Red List (Low Evidence).",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:39:03.814197+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 1, MIM# 209900",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:38:49.213529+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBS1 as Red List (low evidence)",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:38:49.205102+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs1 has been classified as Red List (Low Evidence).",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:38:37.073384+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:36:05.058135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ATP6V1B1.",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:35:55.668469+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ATP6V1B1.\nTag treatable tag was added to gene: ATP6V1B1.",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:35:40.680036+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:30:55.100018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ATP6V0A4.",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:30:24.923202+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ATP6V0A4.\nTag treatable tag was added to gene: ATP6V0A4.",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:30:10.903587+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:24:51.037712+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A2 as ready",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:24:51.023137+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Red List (Low Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:24:46.898653+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:24:24.100520+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0A2 as Red List (low evidence)",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:24:24.090392+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Red List (Low Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:24:13.632383+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:22:12.665805+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2A1 as ready",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:22:12.652156+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2a1 has been classified as Red List (Low Evidence).",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:22:04.095174+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2A1 were changed from Brody myopathy to Brody myopathy, OMIM # 601003",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:21:51.207004+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2A1 as Red List (low evidence)",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:21:51.197491+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2a1 has been classified as Red List (Low Evidence).",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:21:10.848860+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brody myopathy, OMIM # 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:17:54.977020+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:17:54.956562+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Red List (Low Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:17:48.721742+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from Ataxia-telangiectasia to Ataxia-telangiectasia, MIM# 208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:17:35.900676+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATM as Red List (low evidence)",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:17:35.892029+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Red List (Low Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:17:06.817845+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:14:27.036581+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:14:27.024607+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Red List (Low Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:14:23.718515+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPA were changed from Canavan disease to Canavan disease MIM#271900",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:14:11.162941+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASPA as Red List (low evidence)",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:14:11.152792+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Red List (Low Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:13:58.328604+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:12:00.676964+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARPC1B as ready",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:12:00.668344+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc1b has been classified as Green List (High Evidence).",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:10:14.609619+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:10:14.601651+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Red List (Low Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:10:06.495900+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome, MIM# 203800",
"entity_name": "ALMS1",
"entity_type": "gene"
}
]
}