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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1674",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1672",
"results": [
{
"created": "2020-08-14T09:38:13.761236+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS26 was added\ngene: RPS26 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10, MIM#\t613309\nReview for gene: RPS26 was set to RED\nAdded comment: Hydrops is a feature of DBA, but no specific reports identified linking this gene to hydrops. \nSources: Expert list",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:33:13.378731+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS24 as ready",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:33:13.365015+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps24 has been classified as Red List (Low Evidence).",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:33:06.041773+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS24 was added\ngene: RPS24 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, MIM#\t610629\nReview for gene: RPS24 was set to RED\nAdded comment: Hydrops is a feature of DBS, but no specific reports identified linking this gene to hydrops. \nSources: Expert list",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:31:30.532852+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS10 as ready",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:31:30.515832+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps10 has been classified as Red List (Low Evidence).",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:31:19.137057+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS10 was added\ngene: RPS10 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9, MIM#\t613308\nReview for gene: RPS10 was set to RED\nAdded comment: Hydrops has been described in DBS, but no specific reports identified linking this gene to hydrops. \nSources: Expert list",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:29:05.979467+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL5 as ready",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:29:05.968125+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl5 has been classified as Red List (Low Evidence).",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:28:59.584546+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL5 was added\ngene: RPL5 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL5 were set to 20301769\nPhenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6, MIM#\t612561\nReview for gene: RPL5 was set to RED\nAdded comment: Hydrops has been reported in DBA, but no specific reports identified linking this gene to hydrops. \nSources: Expert list",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:18:37.108047+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL35A as ready",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:18:37.096634+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl35a has been classified as Red List (Low Evidence).",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:18:29.848737+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35A was added\ngene: RPL35A was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL35A were set to 20301769\nPhenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, MIM#\t612528\nReview for gene: RPL35A was set to RED\nAdded comment: Hydrops is a feature of DBS, but no specific case reports identified linking this gene to hydrops. \nSources: Expert list",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:15:45.204938+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS19 as ready",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:15:45.195347+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps19 has been classified as Red List (Low Evidence).",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:15:38.909776+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS19 was added\ngene: RPS19 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS19 were set to 23349008\nPhenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM#\t105650\nReview for gene: RPS19 was set to RED\nAdded comment: Single case report. \nSources: Expert list",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:10:27.452391+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:10:27.441612+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Red List (Low Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:10:20.724935+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RASA1 were set to 26096958\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM#\t608354\nReview for gene: RASA1 was set to RED\nAdded comment: Single case report. \nSources: Expert list",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:06:18.458294+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:06:18.447748+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r2 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:06:12.632573+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3R2 was added\ngene: PIK3R2 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3R2 were set to 23754335\nPhenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM#\t615937\nReview for gene: PIK3R2 was set to RED\nAdded comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified. \nSources: Expert list",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:03:09.982283+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:03:09.972970+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Red List (Low Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:03:03.206377+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3CA were set to 23754335\nPhenotypes for gene: PIK3CA were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM#\t615937\nReview for gene: PIK3CA was set to RED\nAdded comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified. \nSources: Expert list",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:08:34.092700+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG1: Changed rating: AMBER",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:07:00.620896+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC23B as ready",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:07:00.610078+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23b has been classified as Green List (High Evidence).",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:06:56.985224+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC23B as Green List (high evidence)",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:06:56.975539+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23b has been classified as Green List (High Evidence).",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:06:30.229804+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23B was added\ngene: SEC23B was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC23B were set to 29300242; 20381388\nPhenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II\t, MIM#224100\nReview for gene: SEC23B was set to GREEN\nAdded comment: Three cases reported of severe presentation including hydrops. \nSources: Expert list",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:02:47.772791+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC2 as ready",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:02:47.763839+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc2 has been classified as Red List (Low Evidence).",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2020-08-14T06:02:40.817678+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC2 was added\ngene: NPC2 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM#\t607625\nReview for gene: NPC2 was set to RED\nAdded comment: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease. \nSources: Expert list",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2020-08-14T05:52:51.209770+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RYR1: Changed rating: GREEN",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-08-13T19:13:14.234414+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MID1 as ready",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2020-08-13T19:13:14.223362+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mid1 has been classified as Red List (Low Evidence).",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2020-08-13T19:13:06.615935+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MID1 was added\ngene: MID1 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MID1 were set to 3517843; 24863803\nPhenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I\t300000\nReview for gene: MID1 was set to RED\nAdded comment: Two reports of hydrops in Opitz G, in the context of complex congenital heart disease, one of them dating back to 1986, not molecularly confirmed. \nSources: Expert list",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2020-08-13T19:03:34.583635+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2020-08-13T19:03:34.572315+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Red List (Low Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2020-08-13T19:03:26.900884+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM#\t248500\nReview for gene: MAN2B1 was set to RED\nAdded comment: Cannot find reports of hydrops associated with this particular lysosomal disorder. \nSources: Expert list",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:58:48.299233+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:58:48.290154+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:58:45.122239+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARS2 as Green List (high evidence)",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:58:45.109657+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:58:18.316260+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS2 were set to 26537577; 32442335\nPhenotypes for gene: LARS2 were set to Hydrops, lactic acidosis, and sideroblastic anemia, MIM#\t617021\nReview for gene: LARS2 was set to GREEN\nAdded comment: Three families reported with multi-system disease including hydrops. \nSources: Expert list",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:53:29.680078+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:53:29.671399+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Red List (Low Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:53:15.752672+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: KDM6A was set to Other\nPublications for gene: KDM6A were set to 27568880\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM#\t300867\nReview for gene: KDM6A was set to RED\nAdded comment: Reports of hydrops in KMT2D-related Kabuki syndrome, however no specific reports of hydrops in individuals with KDM6A-related Kabuki, XLD. \nSources: Expert list",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:43:40.671094+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXB as ready",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:43:40.659181+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexb has been classified as Red List (Low Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:43:32.333039+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, MIM#\t268800\nReview for gene: HEXB was set to RED\nAdded comment: Cannot find specific reports of hydrops with this lysosomal storage disorder. \nSources: Expert list",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:40:18.871284+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:40:18.861557+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Red List (Low Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:40:12.590164+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Tay-Sachs disease, MIM#\t272800\nReview for gene: HEXA was set to RED\nAdded comment: Cannot find specific reports of hydrops in this lysosomal storage disorder. \nSources: Expert list",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:35:11.611573+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HBA1.",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:34:51.553303+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA2 as ready",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:34:51.541964+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba2 has been classified as Green List (High Evidence).",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:34:47.871121+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBA2 were changed from to Thalassemia, alpha-, MIM# 604131",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:34:22.343792+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:34:01.260735+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HBA2.",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:33:52.270445+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:32:56.121032+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA1 as ready",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:32:56.105992+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba1 has been classified as Green List (High Evidence).",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:32:53.760560+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBA1 were changed from to Thalassemias, alpha- , MIM#604131",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:32:32.532242+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:32:04.703137+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:30:34.477479+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:30:34.466278+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Red List (Low Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:30:15.778488+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HADHB were set to 26070998\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM#\t609015\nReview for gene: HADHB was set to RED\nAdded comment: Single case reported with prenatal onset cardiomyopathy and hydrops. \nSources: Expert list",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:16:41.261193+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:16:41.251701+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Red List (Low Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-08-13T18:16:34.529543+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HADHA were set to 23137060; 11111210\nPhenotypes for gene: HADHA were set to LCHAD deficiency, MIM#\t609016\nReview for gene: HADHA was set to RED\nAdded comment: Gene listed in a review as a cause of fetal hydrops, single case report identified to support link. \nSources: Expert list",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:30:51.412826+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:30:51.401614+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Red List (Low Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:30:40.317895+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADH was added\ngene: HADH was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#\t231530\nReview for gene: HADH was set to RED\nAdded comment: Cannot find specific reports of hydrops associated with this metabolic disorder. \nSources: Expert list",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:29:33.098632+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-13T17:20:32.141746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPI as ready",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:20:32.125245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpi has been classified as Green List (High Evidence).",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:20:25.546693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPI were changed from to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:20:07.735500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:19:51.041479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:18:45.675636+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPI as ready",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:18:45.665040+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpi has been classified as Green List (High Evidence).",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:18:40.623314+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPI as Green List (high evidence)",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:18:40.614934+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpi has been classified as Green List (High Evidence).",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T17:18:16.659267+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPI was added\ngene: GPI was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPI were set to 29227722; 3796702; 469896; 26509025\nPhenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM#\t613470\nReview for gene: GPI was set to GREEN\nAdded comment: Severe presentation with hydrops reported in at least four cases. \nSources: Expert list",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:39:33.315027+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:39:33.300229+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Red List (Low Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:39:27.074154+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease, MIM#\t245200\nReview for gene: GALC was set to RED\nAdded comment: Cannot find reports of hydrops with this specific lysosomal storage disorder. \nSources: Expert list",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:32:43.817290+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PD as ready",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:32:43.808667+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Red List (Low Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:32:41.260379+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: G6PD were changed from emolytic anemia, G6PD deficient (favism), MIM#\t300908 to Hemolytic anemia, G6PD deficient (favism), MIM#\t300908",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:32:10.260892+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: G6PD: Changed phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:32:02.128305+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PD was added\ngene: G6PD was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: G6PD were set to 23719252; 24999569\nPhenotypes for gene: G6PD were set to emolytic anemia, G6PD deficient (favism), MIM#\t300908\nReview for gene: G6PD was set to RED\nAdded comment: Two case reports identified. However, a second diagnosis was present in both and the G6PD deficiency may have contributed to severity rather than being the primary factor. \nSources: Expert list",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:26:57.353821+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:26:57.345553+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Red List (Low Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:26:50.620663+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FUCA1 was added\ngene: FUCA1 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUCA1 were set to Fucosidosis, MIM#\t230000\nReview for gene: FUCA1 was set to RED\nAdded comment: Cannot find specific reports of hydrops in this lysosomal disorder, though several others can present with hydrops. \nSources: Expert list",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:24:04.617689+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DMPK: Changed publications: 9134395, 8140064; Changed phenotypes: Myotonic dystrophy 1, MIM# 160900",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:21:46.629352+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBP as ready",
"entity_name": "EBP",
"entity_type": "gene"
}
]
}