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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1137",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1135",
"results": [
{
"created": "2021-11-09T13:39:09.968322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcap31 has been classified as Green List (High Evidence).",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2021-11-09T13:39:05.466179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAP31 were changed from DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2021-11-09T13:38:53.150729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCAP31 were set to ",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2021-11-09T13:38:39.509723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.; to: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.\r\n\r\nMicrocephaly is a feature.",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2021-11-09T13:00:06.308617+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS9 as ready",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-09T13:00:06.296764+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs9 has been classified as Green List (High Evidence).",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-09T13:00:02.457411+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from BARDET-BIEDL SYNDROME TYPE 9 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:59:49.793451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS9 were set to ",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:59:30.828456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS7 as ready",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:59:30.816983+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs7 has been classified as Green List (High Evidence).",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:59:27.112297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from BARDET-BIEDL SYNDROME TYPE 7 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:59:16.045905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS7 were set to ",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:58:56.020137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS5 as ready",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:58:56.005973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs5 has been classified as Green List (High Evidence).",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:58:51.582967+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS5 were changed from BARDET-BIEDL SYNDROME TYPE 5 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:58:39.451569+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS5 were set to ",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:58:17.467290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS4 as ready",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:58:17.449319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs4 has been classified as Green List (High Evidence).",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:58:14.083763+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS4 were changed from BARDET-BIEDL SYNDROME TYPE 4 to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:58:03.306262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS4 were set to 28425981",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:57:42.258741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS2 as ready",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:57:42.248318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs2 has been classified as Green List (High Evidence).",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:57:38.736876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS2 were changed from BARDET-BIEDL SYNDROME TYPE 2 to Bardet-Biedl syndrome 2, MIM# 615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:57:27.028403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS2 were set to ",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:57:08.465225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS12 as ready",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:57:08.455670+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs12 has been classified as Green List (High Evidence).",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:57:05.140572+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS12 were changed from BARDET-BIEDL SYNDROME TYPE 12 to Bardet-Biedl syndrome 12, MIM# 615989",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:56:52.673124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS12 were set to ",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:56:33.520931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS10 as ready",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:56:33.510727+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs10 has been classified as Green List (High Evidence).",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:56:22.319972+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS10 were changed from BARDET-BIEDL SYNDROME TYPE 10 to Bardet-Biedl syndrome 10, MIM# 615987",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:56:12.271929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS10 were set to ",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:55:48.561522+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS1 as ready",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:55:48.551281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs1 has been classified as Green List (High Evidence).",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:55:44.154980+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS1 were set to ",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:55:31.557599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Renal abnormalities reported.\r\n\r\nSome suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.; to: Well established gene-disease association. Renal abnormalities and polydactyly.\r\n",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:54:36.887513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALT7 as ready",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:54:36.878435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:54:32.993984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALT7 were changed from EHLERS-DANLOS SYNDROME PROGEROID TYPE to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:54:20.344893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALT7 were set to ",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:54:06.848977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not a consistent feature, and developmental delay, where present is generally mild.; to: Multiple skeletal abnormalities, including talipes.",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:53:51.318741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B4GALT7: Changed rating: GREEN",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:52:53.486375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GLCT as ready",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:52:53.476640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3glct has been classified as Green List (High Evidence).",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:52:49.648440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GLCT were changed from PETERS-PLUS SYNDROME 261540 to Peters-plus syndrome, MIM#261540",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:52:37.975011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GLCT were set to 29096039",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2021-11-09T12:52:22.300317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Retinal coloboma is part of the phenotype. \nSources: Expert list; to: IUGR, cleft lip/palate are part of the phenotype. \r\nSources: Expert list",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2021-11-09T09:00:18.918863+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GAT3 were changed from 245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:59:05.860104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported.; to: 26 patients from 13 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Multiple skeletal and cardiac abnormalities reported.",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:58:49.127822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GAT3 as ready",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:58:49.117845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3gat3 has been classified as Green List (High Evidence).",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:58:20.691546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GAT3 were set to ",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:58:06.230584+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.; to: Established gene-disease association. 26 patients from 13 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Multiple skeletal and cardiac abnormalities reported.",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:57:02.290606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GAT3: Changed publications: 21763480, 25893793, 26086840, 31988067, 31438591",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:55:59.778964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is not usually a feature of this skeletal dysplasia; to: Established gene-disease association.",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:55:18.508492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GAT3: Changed rating: GREEN; Changed publications: 21763480, 25893793, 26086840, 31988067",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:49:51.697521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALT6 as ready",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:49:51.687620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galt6 has been classified as Green List (High Evidence).",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:49:47.387987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALT6 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1; EHLERS-DANLOS SYNDROME to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:49:34.620748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALT6 were set to ",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:49:18.638478+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene cause severe skeletal/connective tissue phenotypes, and although developmental delay has been described, it is unclear whether this truly reflects intellectual disability.; to: Bi-allelic variants in this gene cause severe skeletal/connective tissue phenotypes, including IUGR, cleft palate, joint contractures.",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:48:54.565869+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GALT6: Changed publications: 23664117, 29931299, 29443383",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:48:00.707534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GALT6: Changed phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-11-09T08:47:36.935260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GALT6: Changed rating: GREEN",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:38:33.847513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:38:33.836785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:38:29.538689+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from DKC1-RELATED DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA, X-LINKED to Dyskeratosis congenita, X-linked MIM#305000; Hoyeraal-Hreidarsson syndrome (HHS)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:38:10.617950+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:36:41.359245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HR as ready",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:36:41.347206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hr has been classified as Green List (High Evidence).",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:36:33.067719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HR were changed from to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:36:06.698243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:35:42.491512+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HR as ready",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:35:42.481511+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hr has been classified as Green List (High Evidence).",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:35:33.508954+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HR were changed from Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:35:17.813058+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:34:47.218829+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HR as ready",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:34:47.203416+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hr has been classified as Green List (High Evidence).",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:34:39.549097+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HR were changed from Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:34:28.677496+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:31:19.804891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPSE2 as ready",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:31:19.795399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpse2 has been classified as Green List (High Evidence).",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:31:12.778509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPSE2 were changed from to Urofacial syndrome 1 MIM#236730",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:30:55.859035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPSE2 were set to ",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:30:38.801546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPSE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:29:41.750638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPK were set to 29904177",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:29:21.279069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30998304, 26173930, 29904177, 26954065, 28771707; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:28:26.660562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29904177; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:28:00.867327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPK as ready",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:28:00.856814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Green List (High Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:27:50.794153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPK were set to ",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:26:49.795033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome MIM#616580",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:26:31.507057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:25:58.897025+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA1 as ready",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:25:58.886192+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Green List (High Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:25:49.976527+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA1 were changed from thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536 to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:25:24.166501+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA1 as Green List (high evidence)",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:25:24.155144+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Green List (High Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:24:49.982339+11:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPK as ready",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T20:24:49.972637+11:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Green List (High Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
}
]
}