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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1496",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1494",
"results": [
{
"created": "2020-11-26T13:18:57.589290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:18:38.933245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688, 28331220; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T11:54:49.201044+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.2",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18614783, 20064500, 31034774, 31077706; Phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPPA",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:02:26.826886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SSR3 as ready",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:02:26.815976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ssr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:02:00.817028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SSR3 as Amber List (moderate evidence)",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:02:00.808528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ssr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:01:42.172670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SSR3 was added\ngene: SSR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSR3 were set to 30945312\nPhenotypes for gene: SSR3 were set to Congenital disorder of glycosylation\nReview for gene: SSR3 was set to AMBER\nAdded comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence. \nSources: Literature",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:00:18.044734+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SSR3 as ready",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:00:18.033058+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ssr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:00:12.481047+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SSR3 as Amber List (moderate evidence)",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T22:00:12.463991+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ssr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:59:41.693593+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SSR3 was added\ngene: SSR3 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSR3 were set to 30945312\nPhenotypes for gene: SSR3 were set to Congenital disorder of glycosylation\nReview for gene: SSR3 was set to AMBER\nAdded comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence. \nSources: Literature",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:48:35.020402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCP2 as ready",
"entity_name": "LCP2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:48:34.992927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcp2 has been classified as Red List (Low Evidence).",
"entity_name": "LCP2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:48:24.335423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCP2 was added\ngene: LCP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCP2 were set to 33231617\nPhenotypes for gene: LCP2 were set to Severe combined immunodeficiency\nReview for gene: LCP2 was set to RED\nAdded comment: Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation. \nSources: Literature",
"entity_name": "LCP2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:32:05.566710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPM2 as Green List (high evidence)",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:32:05.558661+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm2 has been classified as Green List (High Evidence).",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:31:34.539201+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:30:51.461960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM2 were set to 23109149",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:30:32.152388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPM2 as Green List (high evidence)",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:30:32.144955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm2 has been classified as Green List (High Evidence).",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:30:13.338874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:29:29.636964+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM2 were set to 23109149",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:28:41.161408+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPM2 as Green List (high evidence)",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:28:41.152676+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm2 has been classified as Green List (High Evidence).",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:28:11.837585+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Further family reported.; to: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:27:37.748170+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPM2: Added comment: Further family reported.; Changed rating: GREEN; Changed publications: 23109149, 33129689",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:23:52.231506+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A2 as ready",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:23:52.223423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:23:44.921186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:23:23.000333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP6V0A2 were set to ",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:23:06.267348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:23:04.339829+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A2 as ready",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:23:04.330730+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:22:50.890215+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:22:45.996849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:22:24.030647+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP6V0A2 were set to ",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:21:51.547075+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:21:16.980847+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:16:29.634224+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:16:29.625657+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:16:25.725742+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:16:04.362716+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG9 were set to ",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:15:51.670015+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG9 as Green List (high evidence)",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:15:51.659434+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:15:38.160245+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:14:13.451636+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:14:13.439150+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:14:08.523808+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:13:36.656021+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG9 were set to ",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:13:03.592302+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:12:24.997357+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:12:24.987320+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:12:17.086668+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:11:48.908951+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG9 were set to ",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:11:20.500042+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T21:10:47.940844+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:36:04.989988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:36:04.981736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:35:48.040927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Polycystic kidney disease",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:35:28.331471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG9 were set to ",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:35:09.492719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:34:39.332801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:27:53.381839+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:27:53.373517+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:27:50.399257+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:27:21.906866+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG9 were set to ",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:26:52.363021+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T20:26:18.632790+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:26:24.668047+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG8 as ready",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:26:24.657123+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:26:18.147020+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:25:43.700744+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to ",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:25:10.498099+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:22:44.361903+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:21:42.754651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih, MIM# 608104 to Congenital disorder of glycosylation, type Ih, MIM# 608104; Polycystic liver disease 3 with or without kidney cysts, MIM#\t617874",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:21:18.529409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to 26066342",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:20:53.362574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:20:30.176661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Review of 15 reported individuals in PMID: 26066342: multiple prenatal abnormalities were present in 6/12 patients. In 13/15, there were symptoms at birth, 9/15 died within 12 months. Birth weight was appropriate in 11/12, only one was small for gestational age. Prematurity was reported in 7/12. Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly (13/15). In 10/11, there was coagulopathy, in 8/11 elevated transaminases; thrombocytopenia was present in 9/9. Eye involvement was reported in 9/14. CDG typical skin involvement was reported in 8/13.; to: Bi-allelic variants and CDG: Review of 15 reported individuals in PMID: 26066342. Multiple prenatal abnormalities were present in 6/12 patients. In 13/15, there were symptoms at birth, 9/15 died within 12 months. Birth weight was appropriate in 11/12, only one was small for gestational age. Prematurity was reported in 7/12. Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly (13/15). In 10/11, there was coagulopathy, in 8/11 elevated transaminases; thrombocytopenia was present in 9/9. Eye involvement was reported in 9/14. CDG typical skin involvement was reported in 8/13.",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:19:58.157448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG8: Added comment: Monoallelic variants are associated with polycystic liver disease.; Changed publications: 26066342, 28375157, 15235028; Changed phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104, Polycystic liver disease 3 with or without kidney cysts, MIM# 617874; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:18:11.207670+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG8 as ready",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:18:11.195773+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:18:07.628688+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih, MIM# 608104 to Congenital disorder of glycosylation, type Ih, MIM# 608104",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:17:44.861456+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:17:24.741601+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to 26066342",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:17:04.127322+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to ",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:15:43.818597+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:15:14.031170+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:12:54.930797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG8 as ready",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:12:54.920567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:12:42.116415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:11:50.780013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to ",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:10:55.167523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:10:35.609599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:09:33.912267+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG8 as ready",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:09:33.898815+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:09:30.148198+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:08:55.758005+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to ",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:08:21.999846+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
}
]
}