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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1583",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1581",
"results": [
{
"created": "2020-09-18T00:36:23.469512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4480",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: MAPK8 was added\ngene: MAPK8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAPK8 were set to 31784499\nPhenotypes for gene: MAPK8 were set to Chronic mucocutaneous candidiasis; Connective tissue disorders\nAdded comment: PMID: 31784499 (2020) - Three cases in a single family with chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with hEDS. WES revealed a splice-site variant (c.311+1G>A) in the MAPK8 gene that segregated with the disorder. Includes supportive functional data using patient-derived fibroblasts, showing that the variant impairs IL-17A/F immunity and the development of Th17 cells. \nSources: Literature",
"entity_name": "MAPK8",
"entity_type": "gene"
},
{
"created": "2020-09-17T23:58:21.061449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4480",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: CTNNBL1 was added\ngene: CTNNBL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTNNBL1 were set to 32484799\nPhenotypes for gene: CTNNBL1 were set to Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency\nAdded comment: PMID: 32484799 (2020) - One patient with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC), associated with a homozygous missense M466V variant in the CTNNBL1 gene. Functional studies showed that the variant impaired interaction with AID, in turn disrupting AID-mediated antibody diversification in activated B-cells. \nSources: Literature",
"entity_name": "CTNNBL1",
"entity_type": "gene"
},
{
"created": "2020-09-17T20:17:57.989099+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATAD3A as ready",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-09-17T20:17:57.978565+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atad3a has been classified as Green List (High Evidence).",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-09-17T20:17:51.243779+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome to Harel-Yoon syndrome, MIM# 617183",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-09-17T20:17:36.788592+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATAD3A were set to ",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-09-17T20:17:22.796736+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28158749, 27640307; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:49:23.505796+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZEB2 as ready",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:49:23.497304+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:49:17.511743+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZEB2 as Amber List (moderate evidence)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:49:17.503874+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:48:55.478245+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZEB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:48:27.205014+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ZEB2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:48:15.362384+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZEB2 was added\ngene: ZEB2 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: ZEB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZEB2 were set to 25123255; 18076118\nPhenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome MIM#235730\nReview for gene: ZEB2 was set to AMBER\nAdded comment: Identified 3 unrelated cases with cranionsynostosis as a prominent feature of the condition. However, the last report was in 2014. \nSources: Literature",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:30:52.077807+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SCARF2 as ready",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:30:52.058631+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scarf2 has been classified as Red List (Low Evidence).",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:29:27.937694+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCARF2 was added\ngene: SCARF2 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCARF2 were set to 23808541\nPhenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome MIM#600920\nReview for gene: SCARF2 was set to RED\nAdded comment: A single family reported with craniosynostosis as a feature of the condition. \nSources: Literature",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:20:07.084489+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:20:07.076057+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:19:12.373045+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LMX1B as Amber List (moderate evidence)",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:19:12.360971+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-09-17T18:18:39.246055+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.142",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMX1B was added\ngene: LMX1B was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMX1B were set to 29852132; 20643727\nPhenotypes for gene: LMX1B were set to Coronal craniosynostosis\nReview for gene: LMX1B was set to AMBER\nAdded comment: A single case reported with p.L203F and craniosynostosis. Supporting mouse model. \nSources: Literature",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:53:13.293691+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IRX5 as ready",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:53:13.284556+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irx5 has been classified as Red List (Low Evidence).",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:53:01.571749+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IRX5 was added\ngene: IRX5 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IRX5 were set to 22581230\nPhenotypes for gene: IRX5 were set to Hamamy syndrome\tMIM#611174\nReview for gene: IRX5 was set to RED\nAdded comment: A single consanguineous family reported with craniosynostosis as a feature of the condition. \nSources: Literature",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:43:50.438775+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPC3 as Amber List (moderate evidence)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:43:50.431120+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:43:09.693947+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPC3 was added\ngene: GPC3 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GPC3 were set to 24115482; 28796105; 19372699\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1 MIM#312870\nReview for gene: GPC3 was set to AMBER\nAdded comment: At least 2 unrelated cases reported with craniosynostosis as a feature of the condition. Supporting in vitro functional assays. \nSources: Literature",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:29:07.706360+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FBN1 as Green List (high evidence)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:29:07.696252+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-09-17T17:28:27.688491+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.137",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FBN1 was added\ngene: FBN1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBN1 were set to 8563763; 16596670; 24039054; 27884935\nPhenotypes for gene: FBN1 were set to Shprintzen-Goldberg syndrome; Marfan syndrome MIM#154700\nReview for gene: FBN1 was set to GREEN\nAdded comment: At least 5 unrelated cases have been reported, usually de novo with craniosynostosis (coronoal and sagittal) as a feature of the condition. \nSources: Literature",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:33:54.518583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDIA5 as ready",
"entity_name": "PDIA5",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:33:54.508615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia5 has been classified as Red List (Low Evidence).",
"entity_name": "PDIA5",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:33:44.879986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA5 as Red List (low evidence)",
"entity_name": "PDIA5",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:33:44.870346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia5 has been classified as Red List (Low Evidence).",
"entity_name": "PDIA5",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:31:36.521174+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI2 as ready",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:31:36.506043+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni2 has been classified as Green List (High Evidence).",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:31:33.283376+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI2 were changed from to Arthrogryposis, distal, type 2B1, MIM# 601680",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:31:11.255308+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNI2 were set to ",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:30:49.834917+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TNNI2 was changed from to Other",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:30:28.645694+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:30:00.781196+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17194691, 25340332, 12592607; Phenotypes: Arthrogryposis, distal, type 2B1, MIM# 601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:26:47.860520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI2 as ready",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:26:47.850261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni2 has been classified as Green List (High Evidence).",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:26:40.784328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI2 were changed from to Arthrogryposis, distal, type 2B1 (MIM#601680)",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:26:22.200661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNI2 were set to ",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:26:03.412799+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TNNI2 was changed from to Other",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T15:25:45.367547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T13:54:22.130004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4475",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2020-09-17T13:49:59.525932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4475",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: Only a handful of variants reported, with a cluster of pathogenic missense in the C-terminal (between p.165 and 175). Missense, nonsense (not NMD) and an inframe-deletion have been shown to result in gain of function.; to: Only a handful of variants reported, with a cluster of pathogenic missense in the C-terminal (between p.165 and 175). Missense, nonsense (not NMD) and an inframe-deletion have been shown to result in gain of function (PMIDs: 17194691, 25340332).",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T13:45:46.139613+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4475",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PDIA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PDIA5",
"entity_type": "gene"
},
{
"created": "2020-09-17T13:34:50.251456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4475",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17194691, 25340332; Phenotypes: Arthrogryposis, distal, type 2B1 (MIM#601680); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-09-17T12:43:51.783124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4475",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MMP23A as ready",
"entity_name": "MMP23A",
"entity_type": "gene"
},
{
"created": "2020-09-17T12:43:51.773085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4475",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmp23a has been classified as Red List (Low Evidence).",
"entity_name": "MMP23A",
"entity_type": "gene"
},
{
"created": "2020-09-17T12:43:43.218177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4475",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MMP23A as Red List (low evidence)",
"entity_name": "MMP23A",
"entity_type": "gene"
},
{
"created": "2020-09-17T12:43:43.206622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4475",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmp23a has been classified as Red List (Low Evidence).",
"entity_name": "MMP23A",
"entity_type": "gene"
},
{
"created": "2020-09-17T12:43:24.876013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4474",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MMP23A: Rating: RED; Mode of pathogenicity: None; Publications: 15483646, 18924166; Phenotypes: Craniosynostosis; Mode of inheritance: Unknown",
"entity_name": "MMP23A",
"entity_type": "gene"
},
{
"created": "2020-09-17T11:37:59.388400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF2 were set to 21937992; 22633631; 26350204",
"entity_name": "TAF2",
"entity_type": "gene"
},
{
"created": "2020-09-17T11:37:30.012963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF2: Added comment: Evidence for gene-disease association is limited. Families reported as part of large cohorts with limited phenotypic data, and variants are homozygous missense without functional validation. Borderline Amber/Green.; Changed publications: 21937992, 22633631, 26350204, 24084144",
"entity_name": "TAF2",
"entity_type": "gene"
},
{
"created": "2020-09-17T08:42:48.857922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24084144, 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAF2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:25:23.394302+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:25:23.373896+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:25:18.716036+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCD1 as Green List (high evidence)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:25:18.704306+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:25:10.750937+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM#\t300100\nReview for gene: ABCD1 was set to GREEN\nAdded comment: Variable age of onset. Spasticity is a feature. Well established gene-disease association. \nSources: Expert list",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:37.106640+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YAP1 was added\ngene: YAP1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: YAP1 were set to 24462371\nPhenotypes for gene: YAP1 were set to COB1; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:36.836424+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT3 was added\ngene: WNT3 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT3 were set to 14872406\nPhenotypes for gene: WNT3 were set to TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE; TETAMS",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:36.632024+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WASHC5 was added\ngene: WASHC5 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WASHC5 were set to 24065355\nPhenotypes for gene: WASHC5 were set to RTSC1; RITSCHER-SCHINZEL SYNDROME 1",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:36.424558+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAX1 was added\ngene: VAX1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: VAX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VAX1 were set to 22095910\nPhenotypes for gene: VAX1 were set to MCOPS11; MICROPHTHALMIA, SYNDROMIC 11",
"entity_name": "VAX1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:36.220067+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCC2 was added\ngene: UQCC2 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UQCC2 were set to 24385928\nPhenotypes for gene: UQCC2 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:36.017664+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBB was added\ngene: UBB was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: UBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: UBB were set to Cleft palate, isolated, 119540",
"entity_name": "UBB",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:35.810768+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TWIST2 was added\ngene: TWIST2 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: TWIST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TWIST2 were set to BARBER-SAY SYNDROME; BBRSAY",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:35.606767+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSR2 was added\ngene: TSR2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: TSR2 was set to Unknown\nPhenotypes for gene: TSR2 were set to Cleft palate",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:35.335162+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB2 was added\ngene: TGFB2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFB2 were set to 29392890\nPhenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, 614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:35.125394+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFAP2B was added\ngene: TFAP2B was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: TFAP2B was set to Unknown\nPhenotypes for gene: TFAP2B were set to Cleft lip",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:34.913211+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUMO1 was added\ngene: SUMO1 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: SUMO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SUMO1 were set to 22492558\nPhenotypes for gene: SUMO1 were set to Cleft Lip with or without Cleft Palate; Orofacial cleft 10, 613705",
"entity_name": "SUMO1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:34.632160+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP1 was added\ngene: STXBP1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STXBP1 were set to EIEE4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:34.427115+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRA6 was added\ngene: STRA6 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRA6 were set to MCOPS9; MICROPHTHALMIA, SYNDROMIC 9",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:33.931165+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STIL was added\ngene: STIL was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STIL were set to MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:33.727055+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX2 was added\ngene: SOX2 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX2 were set to MICROPHTHALMIA, SYNDROMIC 3; MCOPS3",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:33.523525+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMOC1 was added\ngene: SMOC1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMOC1 were set to MLA; MICROPHTHALMIA WITH LIMB ANOMALIES",
"entity_name": "SMOC1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:33.317518+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD2 was added\ngene: SMAD2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD2 were set to 29967133; 29392890\nPhenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:33.041799+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SELENOI was added\ngene: SELENOI was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: SELENOI was set to Unknown\nPhenotypes for gene: SELENOI were set to Cleft palate",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:32.839121+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPO2 was added\ngene: RSPO2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: RSPO2 was set to Unknown\nPhenotypes for gene: RSPO2 were set to Cleft lip",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:32.624478+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS19 was added\ngene: RPS19 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS19 were set to DBA1; DIAMOND-BLACKFAN ANEMIA 1",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:32.470543+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS17 was added\ngene: RPS17 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS17 were set to DIAMOND-BLACKFAN ANEMIA 4; DBA4",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:32.210929+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL11 was added\ngene: RPL11 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: RPL11 was set to Unknown\nPhenotypes for gene: RPL11 were set to Cleft palate",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:31.938618+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to TAR; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:31.731795+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAI1 was added\ngene: RAI1 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RAI1 were set to SMS; SMITH-MAGENIS SYNDROME",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:31.529567+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTDSS1 was added\ngene: PTDSS1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PTDSS1 were set to 25363158; 15194948; 26117586; 24241535\nPhenotypes for gene: PTDSS1 were set to broad prominent forehead; delayed closure of the fontanelles; dental enamel hypoplasia; growth restriction; Lenz-Majewski hyperostotic dwarfism, 151050; choanal atresia; proximal symphalangism cutis laxa; progressive sclerosis and hyperostosis of skull, vertebra and tubular bones; brachydactyly of fingers and toes\nMode of pathogenicity for gene: PTDSS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:31.322076+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSAT1 were set to 25152457\nPhenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:31.110671+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PQBP1 was added\ngene: PQBP1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PQBP1 were set to 7943045\nPhenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:30.841492+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT2 was added\ngene: POMT2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMT2 were set to 15894594\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:30.634429+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT1 was added\ngene: POMT1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMT1 were set to 12369018\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:30.427448+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEKHA5 was added\ngene: PLEKHA5 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLEKHA5 were set to 29805042\nPhenotypes for gene: PLEKHA5 were set to cleft lip",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:30.222894+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCB4 was added\ngene: PLCB4 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: PLCB4 was set to Unknown\nPhenotypes for gene: PLCB4 were set to Cleft palate",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:30.047122+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3R2 was added\ngene: PIK3R2 was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PIK3R2 were set to MPPH1; MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:29.816322+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGL was added\ngene: PIGL was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGL were set to 28371479\nPhenotypes for gene: PIGL were set to CHIME; COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:29.615351+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to Clefting_GEL. Sources: Expert Review Red\nMode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PIGA were set to 22305531; 22514539\nPhenotypes for gene: PIGA were set to MCAHS2; MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2020-09-16T18:00:29.413588+10:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM1 was added\ngene: PGM1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: PGM1 was set to Unknown\nPhenotypes for gene: PGM1 were set to Cleft palate",
"entity_name": "PGM1",
"entity_type": "gene"
}
]
}