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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=870",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=868",
"results": [
{
"created": "2022-04-26T20:29:58.933129+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX11B as ready",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:29:58.916389+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex11b has been classified as Green List (High Evidence).",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:29:21.516042+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:29:19.445323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CLCNKB.",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:28:44.861427+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to ",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:28:09.249687+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:27:30.703006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX11B as ready",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:27:30.698282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two published families and one International.",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:27:30.660477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex11b has been classified as Green List (High Evidence).",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:27:25.744199+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:27:09.133430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:26:45.096876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to ",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:26:06.796285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:25:34.613672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PER2 as ready",
"entity_name": "PER2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:25:34.591706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: per2 has been classified as Red List (Low Evidence).",
"entity_name": "PER2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:25:26.091555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PER2 were changed from to Advanced sleep phase syndrome, familial, 1 - MIM#604348",
"entity_name": "PER2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:25:04.758340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PER2 were set to ",
"entity_name": "PER2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:24:33.790308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PER2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:24:03.345737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PER2 as Red List (low evidence)",
"entity_name": "PER2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:24:03.334034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: per2 has been classified as Red List (Low Evidence).",
"entity_name": "PER2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:23:27.353703+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIT as ready",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:23:27.342890+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cit has been classified as Green List (High Evidence).",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:23:17.587796+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIT were changed from to Microcephaly 17, primary, autosomal recessive (MIM#617090)",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:22:45.800513+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIT were set to ",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:22:04.433383+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:21:29.497099+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578, 27503289, 27453579; Phenotypes: Microcephaly 17, primary, autosomal recessive (MIM#617090); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:18:27.156977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDZD7 as ready",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:18:27.142441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdzd7 has been classified as Green List (High Evidence).",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:18:18.566795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDZD7 were changed from to Deafness, autosomal recessive 57, MIM# 618003; Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:17:57.703478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDZD7 were set to ",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:17:37.114522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDZD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:16:00.955572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDYN: Changed rating: GREEN",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:15:43.144304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDYN as ready",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:15:43.138212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: The presence of some of these variants in the population is concerning. However, functional data also supports gene-disease association.",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:15:43.091456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdyn has been classified as Green List (High Evidence).",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:15:15.500235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDYN were changed from to Spinocerebellar ataxia 23 - MIM#610245",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:14:52.767206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDYN were set to ",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:14:31.345104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDYN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:11:00.674822+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRM2 as ready",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:11:00.664270+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrm2 has been classified as Red List (Low Evidence).",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:10:52.878451+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRM2 was added\ngene: CHRM2 was added to Dilated Cardiomyopathy. Sources: Expert Review\nMode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHRM2 were set to 23743182; 18451336\nPhenotypes for gene: CHRM2 were set to Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related\nReview for gene: CHRM2 was set to RED\nAdded comment: 1 family with 12 affecteds (Cys176Gly, absent in gnomad). Proteomics analysis was later conducted\r\n\r\nThis gene has not been curated by the ClinGen DCM expert panel. \nSources: Expert Review",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:08:02.777069+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP4B as ready",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:08:02.750872+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp4b has been classified as Green List (High Evidence).",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:08:00.138027+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHMP4B were changed from to Cataract 31, multiple types MIM#605387",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:07:31.491505+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHMP4B were set to ",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:07:01.963467+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:06:31.097847+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHMP4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34722561, 17701905, 10682967, 30078984; Phenotypes: Cataract 31, multiple types MIM#605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:04:36.634140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDGFRA as ready",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:04:36.623465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfra has been classified as Green List (High Evidence).",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:04:28.070319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRA were changed from to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:04:07.816493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFRA were set to ",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:03:46.928657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:02:26.708497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH3 as ready",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:02:26.698112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph3 has been classified as Green List (High Evidence).",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:02:18.678622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH3 were changed from to Ciliary dyskinesia, primary, 32 MIM#616481",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:01:58.451193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH3 were set to ",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:01:39.157552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2022-04-26T19:01:00.231393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF2AK2: Changed phenotypes: Dystonia 33, MIM# 619687, Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:57:41.638769+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH4A were set to 25789548; 22448264",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:56:45.858085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH4A as ready",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:56:45.846610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph4a has been classified as Green List (High Evidence).",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:56:37.235933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11, OMIM#612649",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:56:14.019329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH4A were set to ",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:55:52.103833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:55:19.955817+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH9 were set to 25789548; 31285900",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:54:13.803323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH9 as ready",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:54:13.791104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph9 has been classified as Green List (High Evidence).",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:54:04.834812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12, MIM#612650",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:53:40.544639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH9 were set to ",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:53:20.131747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:51:54.615231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BVES as ready",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:51:54.603003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bves has been classified as Green List (High Evidence).",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2022-04-26T18:51:46.205104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BVES were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2022-04-26T16:46:56.362001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13330",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FOXA2 were changed from Hyperinsulinaemia to Hyperinsulinism MONDO:0002177",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T16:28:13.544805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BVES were set to ",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2022-04-26T16:25:27.100387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BVES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2022-04-26T16:25:02.039045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.\r\n\r\nPMID: 32528171 - 1 patient with limb girdle weakness.\r\n\r\nPMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.; to: PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies: zebrafish model. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.\r\n\r\nPMID: 32528171 - 1 patient with limb girdle weakness.\r\n\r\nPMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2022-04-26T16:23:10.423391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364, 32528171, 31119192; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2022-04-26T16:07:43.670272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:18:26.507890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13326",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CLDN19: Changed publications: 17033971, 22422540, 27530400",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:18:16.534699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13326",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLDN19 as ready",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:18:16.519959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13326",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cldn19 has been classified as Green List (High Evidence).",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:18:07.675507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13326",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN19 were changed from to Hypomagnesemia 5, renal, with ocular involvement, MIM#248190",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:17:55.920416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13325",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CLDN19 were set to ",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:17:50.943689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13325",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:17:34.164727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13324",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033971, 22422540, 27530400]; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM#248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:14:14.419028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13324",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLDN16 as ready",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:14:14.406314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13324",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cldn16 has been classified as Green List (High Evidence).",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:14:03.893620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13324",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN16 were changed from to Hypomagnesemia 3, renal MIM#248250; amelogenesis imperfecta MONDO#0019507, CLDN16-related",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:14:02.969514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13324",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CLDN16 were set to ",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:13:44.335595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13324",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:13:21.259392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13323",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: None; Publications: 26426912, 16501001, 10878661, 32869508; Phenotypes: Hypomagnesemia 3, renal MIM#248250, amelogenesis imperfecta MONDO#0019507, CLDN16-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:07:22.554668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13323",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLDN1 as ready",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:07:22.540970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13323",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cldn1 has been classified as Green List (High Evidence).",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:07:05.338039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13323",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CLDN1 were set to ",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:07:03.160804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13324",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:06:53.537705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13323",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:06:36.543291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12164927, 11889141, 29146216; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:05:34.602208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLCNKB as ready",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:05:34.584629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: clcnkb has been classified as Green List (High Evidence).",
"entity_name": "CLCNKB",
"entity_type": "gene"
}
]
}