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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1513",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1511",
"results": [
{
"created": "2020-11-03T11:46:50.462020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:46:18.673756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: U2AF2 was added\ngene: U2AF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: U2AF2 were set to 33057194\nPhenotypes for gene: U2AF2 were set to Developmental disorders\nReview for gene: U2AF2 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 8 missense, 1 synoymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:43:50.692646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TFE3 were set to 30595499; 31833172",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:41:51.679187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TCF7L2 as ready",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:41:51.670064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcf7l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:41:18.011267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: TCF7L2 were changed from to Developmental disorders",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:41:00.493015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TCF7L2 were set to ",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:40:42.257972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF7L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:40:25.091450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TCF7L2 as Amber List (moderate evidence)",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:40:25.083675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcf7l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:40:01.647155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TCF7L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33057194; Phenotypes: Developmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:34:05.223686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SRRM2 as ready",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:34:05.213066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:33:51.796122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SRRM2 as Amber List (moderate evidence)",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:33:51.785259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:33:33.203537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SRRM2 was added\ngene: SRRM2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRRM2 were set to 33057194\nPhenotypes for gene: SRRM2 were set to Developmental disorders\nReview for gene: SRRM2 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 28 de novo variants (11 frameshift, 7 missense, 1 splice acceptor, 5 stopgain, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:30:58.339248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPEN as ready",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:30:58.330764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spen has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:30:44.247122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPEN as Amber List (moderate evidence)",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:30:44.239440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spen has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:29:25.720269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPEN was added\ngene: SPEN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPEN were set to 33057194\nPhenotypes for gene: SPEN were set to Developmental disorders\nReview for gene: SPEN was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 25 de novo variants (6 frameshift, 1 in-frame, 7 missense, 8 stopgain, 3 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:26:26.652787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SATB1 as ready",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:26:26.645109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:26:10.864836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SATB1 as Amber List (moderate evidence)",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:26:10.849816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:25:22.021087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SATB1 was added\ngene: SATB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SATB1 were set to 33057194\nPhenotypes for gene: SATB1 were set to Developmental disorders\nReview for gene: SATB1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 12 de novo (2 frameshift, 7 missense, 1 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:22:35.084789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAB14 as ready",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:22:35.076842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:22:08.024140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAB14 as Amber List (moderate evidence)",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:22:08.015146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:21:46.411884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB14 was added\ngene: RAB14 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB14 were set to 33057194\nPhenotypes for gene: RAB14 were set to Developmental disorders\nReview for gene: RAB14 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (1 in-frame, 7 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:19:11.540069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PSMC5 as ready",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:19:11.521899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psmc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:18:32.025273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PSMC5 as Amber List (moderate evidence)",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:18:32.015291+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psmc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:18:08.577962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSMC5 was added\ngene: PSMC5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSMC5 were set to 33057194\nPhenotypes for gene: PSMC5 were set to Developmental disorders\nReview for gene: PSMC5 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 9 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:16:26.397493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRPF8 as ready",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:16:26.383655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prpf8 has been classified as Green List (High Evidence).",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:15:58.218675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Established Retinitis pigmentosa gene.\r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 29 de novo variants (2 frameshift, 19 missense, 1 stopgain, 7 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:15:58.187579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PRPF8 were changed from to Retinitis pigmentosa 13, MIM#600059",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:14:01.458603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PRPF8 were set to ",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:13:03.664749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:11:52.673501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MSL2 as ready",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:11:52.660865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:11:21.243499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MSL2 as Amber List (moderate evidence)",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:11:21.230773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:10:23.033609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 25414040",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:06:37.284484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSL2 was added\ngene: MSL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MSL2 were set to 31332282; 33057194\nPhenotypes for gene: MSL2 were set to Developmental disorders; autism\nReview for gene: MSL2 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 13 de novo variants (9 frameshift, 4 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \r\nPMID: 31332282 - candidate gene in a single autism study, with recurrent de novo variants in a potential oligogenic model \nSources: Literature",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:59:58.118341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MMGT1 as Amber List (moderate evidence)",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:59:58.108182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmgt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:58:48.602802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMGT1 was added\ngene: MMGT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MMGT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MMGT1 were set to 33057194\nPhenotypes for gene: MMGT1 were set to Developmental disorders\nReview for gene: MMGT1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 3 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:53:19.683356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MIB1 were set to ",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:52:44.132214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Established congenital cardiac disease gene.\r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:52:44.100997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MIB1 were changed from to Left ventricular noncompaction 7 MIM#615092",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:50:33.499849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5285",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MIB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:47:26.372826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Established cause of hereditary neuropathy.\r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 9 de novo variants (8 missense, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:47:26.339219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:46:04.461836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:38:15.442501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Established pulmonary hypertension gene.\r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (7 missense, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:38:15.410187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: KCNK3 were changed from to Pulmonary hypertension, primary, 4 MIM#615344",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:36:41.952444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:34:07.881762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HNRNPD as ready",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:34:07.852550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpd has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:33:31.124183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HNRNPD as Amber List (moderate evidence)",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:33:31.116420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpd has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:32:49.037499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNRNPD was added\ngene: HNRNPD was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPD were set to 33057194\nPhenotypes for gene: HNRNPD were set to Developmental disorders\nReview for gene: HNRNPD was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (5 frameshift, 1 missense, 1 splice acceptor, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:29:55.764844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 33057194, 31942419; Phenotypes: Developmental disorders, intellectual disability, microcephaly, severe developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:02:49.833064+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:02:20.548714+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:00:58.905942+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TJP2 as ready",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:00:58.875284+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tjp2 has been classified as Green List (High Evidence).",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:00:55.072615+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TJP2 as Green List (high evidence)",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:00:55.062220+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tjp2 has been classified as Green List (High Evidence).",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T10:00:46.716767+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TJP2 was added\ngene: TJP2 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TJP2 were set to 24614073; 25921221; 31696999\nPhenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, MIM#\t615878\nReview for gene: TJP2 was set to GREEN\nAdded comment: Early childhood onset of severe progressive liver disease. At leat 20 unrelated families reported. \nSources: Expert list",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:46:28.330577+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP2 as ready",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:46:28.320399+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:46:23.236444+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6AP2 as Green List (high evidence)",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:46:23.228665+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:45:52.345628+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6AP2 was added\ngene: ATP6AP2 was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: ATP6AP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6AP2 were set to 29127204; 29388887\nPhenotypes for gene: ATP6AP2 were set to Congenital disorder of glycosylation, type IIr, MIM# 301045\nReview for gene: ATP6AP2 was set to GREEN\nAdded comment: Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some individuals may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern.\r\n\r\nTwo unrelated families and functional data support gene-disease association. Note gene has also been associated with two other OMIM phenotypes, 300423 and 300911, comprising ID, parkinsonism and spasticity. Unclear whether all of these represent a spectrum of CDG. \nSources: Expert list",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:40:23.165229+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP2 as ready",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:40:23.156498+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:40:19.114565+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6AP2 as Green List (high evidence)",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:40:19.098282+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:40:09.121512+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP6AP2: Changed rating: GREEN; Changed phenotypes: Congenital disorder of glycosylation, type IIr, MIM# 301045",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:40:02.063771+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6AP2 was added\ngene: ATP6AP2 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP6AP2 were set to 29127204; 29388887\nPhenotypes for gene: ATP6AP2 were set to Congenital disorder of glycosylation, type IIr, MIM#\t301045\nAdded comment: Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some individuals may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern.\r\n\r\nTwo unrelated families and functional data support gene-disease association. \nSources: Expert list",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:33:07.015658+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKG2 as ready",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:33:06.998422+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkg2 has been classified as Green List (High Evidence).",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:32:58.265716+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKG2 as Green List (high evidence)",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:32:58.257847+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkg2 has been classified as Green List (High Evidence).",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:32:27.276458+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKG2 was added\ngene: PRKG2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKG2 were set to 33106379\nPhenotypes for gene: PRKG2 were set to Acromesomelic dysplasia\nReview for gene: PRKG2 was set to GREEN\nAdded comment: - PMID: 33106379 (2020) - Distinct homozygous variants in PRKG2 identified in two unrelated individuals, both with a skeletal dysplasia associated with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones. Functional studies showed both variants result in NMD and disrupt the downstream MAPK signalling pathway in response to FGF2. The role of cGKII, encoded by PRKG2, in skeletal growth has been established in several animal models (references provided in paper). \nSources: Literature",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:30:44.455885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKG2 as ready",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:30:44.445024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkg2 has been classified as Green List (High Evidence).",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:30:10.052952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKG2 as Green List (high evidence)",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:30:10.026664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkg2 has been classified as Green List (High Evidence).",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:29:04.511497+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SALL4 as ready",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:29:04.503542+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sall4 has been classified as Green List (High Evidence).",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:28:59.521990+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SALL4 as Green List (high evidence)",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:28:59.511413+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sall4 has been classified as Green List (High Evidence).",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:28:28.298502+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO3 as ready",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:28:28.287207+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo3 has been classified as Green List (High Evidence).",
"entity_name": "ROBO3",
"entity_type": "gene"
}
]
}