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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1454",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1452",
"results": [
{
"created": "2021-01-04T14:09:43.555280+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-04T14:01:46.456205+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AIRE: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:01:29.553804+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIRE as ready",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:01:29.543834+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:01:26.997906+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:01:04.405461+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIRE were set to ",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:00:35.122899+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIRE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:00:04.006011+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 9398839, 9837820, 16965330; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: None",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-01-04T13:55:25.841301+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-04T12:14:20.718426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPA6 as ready",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:14:20.709445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpa6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:14:08.813512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:13:50.863876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPA6 were set to ",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:13:32.384075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:13:11.460695+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPA6 as Amber List (moderate evidence)",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:13:11.453306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpa6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:12:53.956875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Present in gnomad as hets but no homs. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.\r\n\r\nDisputed association between mono allelic variants and disease: variants reported have high frequency in gnomad, not in keeping with Mendelian disorder.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:12:36.814392+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPA6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:11:40.597551+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPA6 as Amber List (moderate evidence)",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:11:40.586971+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpa6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:11:04.521264+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.\r\n\r\nDisputed association between mono allelic variants and disease.; to: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Present in gnomad as hets but no homs. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.\r\n\r\nDisputed association between mono allelic variants and disease.",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T12:09:34.223279+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.\r\n\r\nDisputed association between mono allelic variants and disease.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T11:11:37.682379+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.990",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: PMID:25875328, 21922598, 23105115, 32207733; Phenotypes: Epilepsy, familial temporal lobe, 5 MIM#614417, Febrile seizures, familial, 11 MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:49:16.991115+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-04T10:48:28.303340+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B10 as ready",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:48:28.279494+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:48:07.652622+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B10 as ready",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:48:07.639131+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:48:02.969614+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD17B10 as Green List (high evidence)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:48:02.958621+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:47:32.027341+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B10 was added\ngene: HSD17B10 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease, MIM# 300438\nReview for gene: HSD17B10 was set to GREEN\nAdded comment: HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Multiple unrelated families reported. \nSources: Expert Review",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:46:11.594395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B10 as ready",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:46:11.586041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:45:41.239897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:45:19.829999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:44:52.834891+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease, MIM# 300438 to HSD10 mitochondrial disease, MIM# 300438",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:44:42.841741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:44:30.485177+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:43:53.529764+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:43:23.384321+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:38:34.343613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCS2 as ready",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:38:34.335448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcs2 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:38:25.600016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:38:06.662069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGCS2 were set to ",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:37:47.160041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:37:24.318004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33045405; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:37:07.085126+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCS2 as ready",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:37:07.074453+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcs2 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:36:51.887920+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:36:25.705510+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGCS2 were set to ",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:36:02.461139+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:35:32.436612+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33045405; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:32:55.139264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HMGCL.",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:32:36.849940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCL as ready",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:32:36.841720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcl has been classified as Green List (High Evidence).",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:32:28.081804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:32:08.433083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGCL were set to ",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:31:47.856770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:30:56.918875+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCL as ready",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:30:56.910854+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcl has been classified as Green List (High Evidence).",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:30:51.826642+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HMGCL.",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:30:48.601116+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, MIM# 246450 to HMG-CoA lyase deficiency, MIM# 246450",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:30:32.004177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8617516; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:30:27.843168+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:28:30.964299+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGCL were set to ",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:28:01.398885+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:27:27.822808+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8617516; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-04T10:25:17.251108+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.32",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: PDCL3 was added\ngene: PDCL3 was added to Gastrointestinal neuromuscular disease. Sources: Literature\nMode of inheritance for gene: PDCL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCL3 were set to PMID: 32621347\nPhenotypes for gene: PDCL3 were set to megacystis-microcolon\nReview for gene: PDCL3 was set to AMBER\nAdded comment: Single publication (PMID 32621347): one family with two affected fetuses - one with megacystis and microcolon, and the other with megacystisis and bilateral diaphragmatic hernia (prune-belly phenotype). Compound het LOF variants in PDCL3 (one frameshift and one missense). Complete absence of PDLC3 expression demonstrated in one of the affected fetuses. \r\n\r\nNo homozygous LOF PDCL3 variants in gnomAD. \r\nPCDL3 negatively modulates actin folding and is strongly expressed in smooth muscle of bladder and colon. \nSources: Literature",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:41:06.806928+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The HADHA (600890) and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.\r\n\r\nClinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported.\r\n\r\nWell established gene-disease association.; to: The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.\r\n\r\nClinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported.\r\n\r\nWell established gene-disease association.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:40:51.462398+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.\r\n\r\nThe HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:40:23.156187+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:40:23.148294+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:40:19.917302+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM# 609015",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:39:51.916597+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HADHB were set to ",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:36:08.096261+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:35:39.986542+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30682426, 28515471; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:25:10.602327+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:25:10.591321+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:25:08.062350+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:24:40.661152+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-01-04T08:24:11.811810+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:10:30.995581+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:10:30.984816+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:10:28.052395+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency, MONDO:0009278",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:09:40.585839+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:08:13.759567+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:07:44.499424+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:04:12.060181+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADVL as ready",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:04:12.051132+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadvl has been classified as Green List (High Evidence).",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:04:09.421176+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADVL were changed from to VLCAD deficiency, MIM# 201475",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:03:43.466169+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADVL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2021-01-03T14:03:13.547009+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:18:22.393924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUD1 as ready",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:18:22.386589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glud1 has been classified as Green List (High Evidence).",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:11:14.730336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:10:53.142106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLUD1 were set to ",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:10:23.870713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:10:04.595867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11214910, 11297618; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM# 606762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:08:54.765123+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUD1 as ready",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:08:54.754795+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glud1 has been classified as Green List (High Evidence).",
"entity_name": "GLUD1",
"entity_type": "gene"
}
]
}