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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=475",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=473",
"results": [
{
"created": "2024-04-03T11:19:56.950159+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 38469793; Phenotypes: Syndromic disease MONDO:0002254, USP14-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP14",
"entity_type": "gene"
},
{
"created": "2024-04-03T11:19:13.094635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP14 as ready",
"entity_name": "USP14",
"entity_type": "gene"
},
{
"created": "2024-04-03T11:19:13.086965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp14 has been classified as Green List (High Evidence).",
"entity_name": "USP14",
"entity_type": "gene"
},
{
"created": "2024-04-03T11:19:01.900436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP14 as Green List (high evidence)",
"entity_name": "USP14",
"entity_type": "gene"
},
{
"created": "2024-04-03T11:19:01.889503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp14 has been classified as Green List (High Evidence).",
"entity_name": "USP14",
"entity_type": "gene"
},
{
"created": "2024-04-03T11:18:31.360657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP14 was added\ngene: USP14 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP14 were set to 38469793; 35066879\nPhenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related\nReview for gene: USP14 was set to GREEN\nAdded comment: PMID 35066879: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.\r\n\r\nPMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. \nSources: Literature",
"entity_name": "USP14",
"entity_type": "gene"
},
{
"created": "2024-04-03T10:17:22.443540+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T10:00:41.613997+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:THAP11 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:59:32.627054+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.43",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ZNF143 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:57:17.710697+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.42",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TCN2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:55:22.245995+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:MTR from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:53:58.673367+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.40",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:MMADHC from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:53:41.262378+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMADHC.",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:53:27.802035+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.39",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:MMACHC from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:53:12.779242+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMACHC.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:52:25.177924+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:LMBRD1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:52:07.162044+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: LMBRD1.",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:51:30.664900+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:HCFC1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:50:33.998615+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.36",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:GIF from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:43:31.924173+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:CUBN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:40:51.123897+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CUBN.",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:40:32.789595+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism; metabolic disorder of sulfur metabolism",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:38:06.846419+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.33",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:AMN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:36:49.951104+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ABCD4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:36:14.434569+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type\tMIM#614857 to Methylmalonic aciduria and homocystinuria, cblJ type\tMIM#614857; disorder of vitamin B12 metabolism",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:28:21.875858+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-03T09:27:36.569958+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TCN1 as ready",
"entity_name": "TCN1",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:27:36.560708+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCN1",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:27:24.360926+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels \nSources: Literature; to: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first-degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels. Also, 4 homozygotes were identified in a study of a loss-of-function variant associated with lower vitamin B12 concentration in African Americans but there was limited ability to assess the clinical impact of the recessive disease\r\nSources: Literature",
"entity_name": "TCN1",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:23:01.671905+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TCN1: Changed publications: 29764838, 19686235",
"entity_name": "TCN1",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:19:26.563067+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TCN1 as Amber List (moderate evidence)",
"entity_name": "TCN1",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:19:26.555124+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCN1",
"entity_type": "gene"
},
{
"created": "2024-04-03T09:19:10.124525+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TCN1 was added\ngene: TCN1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN1 were set to 19686235\nPhenotypes for gene: TCN1 were set to transcobalamin I deficiency MONDO:0008659\nReview for gene: TCN1 was set to AMBER\nAdded comment: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels \nSources: Literature",
"entity_name": "TCN1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:45:42.814477+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFX were changed from Neurodevelopmental disorder, MONDO:0700092, ZFX-related to Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:44:57.708622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFX were changed from Neurodevelopmental disorder, MONDO:0700092, ZFX-related to Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:44:01.071776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZFX: Changed phenotypes: Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:51.006517+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTRR as ready",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:50.986293+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:48.805602+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTRR as Green List (high evidence)",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:48.795026+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:38.711309+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTR as ready",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:38.697110+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtr has been classified as Green List (High Evidence).",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:35.857191+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTR as Green List (high evidence)",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:35.848051+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtr has been classified as Green List (High Evidence).",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:28.518041+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MMADHC as ready",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:28.506360+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmadhc has been classified as Green List (High Evidence).",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:17.602963+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MMADHC as Green List (high evidence)",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:25:17.577236+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmadhc has been classified as Green List (High Evidence).",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:57.685954+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MMACHC as ready",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:57.677295+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:49.636421+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MMACHC as Green List (high evidence)",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:49.628827+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:36.553030+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LMBRD1 as ready",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:36.539162+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:34.285136+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LMBRD1 as Green List (high evidence)",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:34.275548+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:21.761820+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HCFC1 as ready",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:21.751777+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Green List (High Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:18.915383+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HCFC1 as Green List (high evidence)",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:18.903345+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Green List (High Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:09.950800+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GIF as ready",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:09.942478+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gif has been classified as Green List (High Evidence).",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:07.770496+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GIF as Green List (high evidence)",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:24:07.760523+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gif has been classified as Green List (High Evidence).",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:59.529314+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CUBN as ready",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:59.519095+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cubn has been classified as Green List (High Evidence).",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:56.731003+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CUBN as Green List (high evidence)",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:56.717891+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cubn has been classified as Green List (High Evidence).",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:48.940461+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AMN as ready",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:48.925879+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: amn has been classified as Green List (High Evidence).",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:46.515121+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AMN as Green List (high evidence)",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:46.505258+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: amn has been classified as Green List (High Evidence).",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:37.123685+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABCD4 as ready",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:37.107137+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcd4 has been classified as Green List (High Evidence).",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:34.159781+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCD4 as Green List (high evidence)",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:34.149509+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcd4 has been classified as Green List (High Evidence).",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:03.498180+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: THAP11 as ready",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:23:03.487194+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: thap11 has been classified as Red List (Low Evidence).",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:40.057249+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:40.037969+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:36.946827+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TCN2 as Green List (high evidence)",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:36.937395+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:25.886254+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:20.805736+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:15.597735+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:10.262416+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:22:05.029314+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:21:58.624651+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:21:52.175777+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:21:44.841819+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:21:39.599031+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2024-04-03T08:21:32.294515+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2024-04-02T22:15:20.227703+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN2 were set to 19373259\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2024-04-02T22:11:38.522061+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZNF143 as ready",
"entity_name": "ZNF143",
"entity_type": "gene"
},
{
"created": "2024-04-02T22:11:38.513887+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znf143 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF143",
"entity_type": "gene"
},
{
"created": "2024-04-02T22:11:33.642393+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNF143 as Amber List (moderate evidence)",
"entity_name": "ZNF143",
"entity_type": "gene"
},
{
"created": "2024-04-02T22:11:33.630951+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znf143 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF143",
"entity_type": "gene"
},
{
"created": "2024-04-02T22:11:24.881583+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNF143 was added\ngene: ZNF143 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF143 were set to 27349184; 33845046; 9009278; 22268977; 27349184; 27349184\nPhenotypes for gene: ZNF143 were set to methylmalonic aciduria and homocystinuria MONDO:0016826\nReview for gene: ZNF143 was set to AMBER\nAdded comment: Only a single case with biallelic variants reported. However, given a Moderate gene-disease validity classification by the General Inborn Errors of Metabolism GCEP (assessed 05/03/2024). The gene-disease relationship is also supported by biochemical evidence, functional alteration assays, model systems, and rescue experiments \nSources: Literature",
"entity_name": "ZNF143",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:54:12.230483+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: THAP11 as Red List (low evidence)",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:54:12.226502+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Limited gene-disease validity classification on 09/02/2024 by General Inborn Errors of Metabolism GCEP",
"entity_name": "THAP11",
"entity_type": "gene"
}
]
}