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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=532",
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"results": [
{
"created": "2023-11-02T16:56:41.798317+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Congenital disorder of glycosylation, type Ic, 603147 (3) for gene: ALG6",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:40.570079+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Congenital disorder of glycosylation, type Id, 601110 (3) for gene: ALG3",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:39.593527+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Congenital disorder of glycosylation, type Ik, 608540 (3) for gene: ALG1",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:38.484165+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fructose intolerance, 229600 (3) for gene: ALDOB",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:37.165761+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epilepsy, pyridoxine-dependent, 266100 (3) for gene: ALDH7A1",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:35.817830+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Succinic semialdehyde dehydrogenase deficiency, 271980 (3) for gene: ALDH5A1",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:34.898319+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Sjogren-Larsson syndrome, 270200 (3) for gene: ALDH3A2",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:33.610267+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 9B, autosomal recessive, 616586 (3) for gene: ALDH18A1",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:32.290976+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Reticular dysgenesis, 267500 (3) for gene: AK2",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:31.272460+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cone-rod dystrophy, 604393 (3) for gene: AIPL1",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:29.804850+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cowchock syndrome, 310490 (3) for gene: AIFM1",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:28.505297+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Joubert syndrome-3, 608629 (3) for gene: AHI1",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:27.195043+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hyperoxaluria, primary, type 1, 259900 (3) for gene: AGXT",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:26.295554+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) for gene: AGPS",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:24.991214+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glycogen storage disease IIIa, 232400 (3) for gene: AGL",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:23.684394+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Sengers syndrome, 212350 (3) for gene: AGK",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:22.764566+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Aspartylglucosaminuria, 208400 (3) for gene: AGA",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:21.496079+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Adenylosuccinase deficiency, 103050 (3) for gene: ADSL",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:20.100834+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Usher syndrome, type 2C, 605472 (3) for gene: ADGRV1",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:18.869302+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Polymicrogyria, bilateral frontoparietal, 606854 (3) for gene: ADGRG1",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:17.975860+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Aicardi-Goutieres syndrome 6, 615010 (3) for gene: ADAR",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:16.692417+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ehlers-Danlos syndrome, type VIIC, 225410 (3) for gene: ADAMTS2",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:15.474363+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Adenosine deaminase deficiency, partial, 102700 (3) for gene: ADA",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:14.511977+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) for gene: ACOX1",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:13.279408+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Alpha-methylacetoacetic aciduria, 203750 (3) for gene: ACAT1",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:11.969647+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes VLCAD deficiency, 201475 (3) for gene: ACADVL",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:10.664351+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 for gene: ACADM",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:09.704482+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) for gene: ACAD9",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:08.485516+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Adrenoleukodystrophy, 300100 (3) for gene: ABCD1",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:07.178979+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) for gene: ABCC8",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:05.783368+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cholestasis, progressive familial intrahepatic 3, 602347 (3) for gene: ABCB4",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:04.669763+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847 (3) for gene: ABCB11",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:03.374946+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) for gene: ABCA3",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:01.200156+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) for gene: ABCA12",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:00.085938+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Combined oxidative phosphorylation deficiency 8, 614096 (3) for gene: AARS2",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:55:58.706174+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 (3) for gene: AAAS",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2023-11-02T14:37:33.615776+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.125",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "commented on gene: KIAA1161: Dyskinesia can be provoked by quick movement (Kinesigenic) or by Hyperventilation\r\nPatients can present with acute hemiplegia",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2023-11-02T14:36:47.628593+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.125",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "edited their review of gene: KIAA1161: Changed phenotypes: paroxysmal kinesigenic dyskinesia, brain calcification, episodic hemiparesis",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:47:50.972024+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.303",
"user_name": "Julia Broadbent",
"item_type": "entity",
"text": "gene: RERE was added\ngene: RERE was added to Congenital Heart Defect. Sources: Literature,ClinGen\nMode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RERE were set to 29330883, 27087320, 33772547, 36053530\nPhenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (OMIM #616975)\nPenetrance for gene: RERE were set to Complete\nReview for gene: RERE was set to GREEN\nAdded comment: Niehaus, Kim & Manning (2022) (PMID: 36053530) provide an updated literature review, and assert 23 cases have been reported of Neurodevelopmental Disorders with or without Anomalies of the Brain, Eye, or Heart (NEDBEH) caused by heterozygous pathogenic variants in RERE. Eleven of the 23 patients reported (48%) had congenital heart disease, most commonly septal disease. All variants were de novo except one, inherited from a mother with mild symptoms. Variant types include missense, frameshift, small deletions & duplications and 1 large deletion. Missense variants in the atrophin-1 domain seem to present with a more severe phenotype than loss-of-function variants\r\n\r\nNEDBEH is fully penetrant but has variable expressivity – congenital heart anomalies not always present.\r\n\r\nClinGen: definitive association with AD complex neurodevelopmental disorder with or without congenital anomalies. \nSources: Literature, ClinGen",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:04:45.505376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1350",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC66 were changed from to myopia MONDO:0001384, CCDC66-related",
"entity_name": "CCDC66",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:04:22.805723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1349",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCDC66 as Red List (low evidence)",
"entity_name": "CCDC66",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:04:22.795867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1349",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ccdc66 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC66",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:02:59.336685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5606",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "gene: VCP was added\ngene: VCP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VCP were set to PMID: 37883978\nPhenotypes for gene: VCP were set to Neurodevelopmental disorder (MONDO: 0700092)\nReview for gene: VCP was set to GREEN\nAdded comment: 13 unrelated individuals with childhood onset ID/DD disorder including macrocephaly, hypotonia and dysmorphic features. Non-specific / mild MRI findings. \r\n12 de novo - 1 inherited \nSources: Literature",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:02:15.540325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1348",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCDC66 as ready",
"entity_name": "CCDC66",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:02:15.534083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1348",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: de novo NMD in another family\r\n5 other de novo missense (D94E absent in nomad, T121A 25 hets, R499C 31 hets, R553Q 59 hets, K803E 40 hets)\r\n\r\nnoted that there's lots of NMD variants in gnomad v4",
"entity_name": "CCDC66",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:02:15.477207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1348",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ccdc66 has been removed from the panel.",
"entity_name": "CCDC66",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:01:31.342281+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.136",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "gene: VCP was added\ngene: VCP was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VCP were set to PMID: 37883978\nPhenotypes for gene: VCP were set to Neurodevelopmental disorder (MONDO: 0700092)\nReview for gene: VCP was set to GREEN\nAdded comment: 13 unrelated individuals with childhood onset ID/DD disorder including macrocephaly, hypotonia and dysmorphic features. Non-specific / mild MRI findings. \r\n12 de novo - 1 inherited \nSources: Literature",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-02T13:00:24.234021+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZEB1 were changed from Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities to Corpus callosum abnormalities MONDO:0009022",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:59:05.450393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1348",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MYO9B were changed from {Celiac disease, susceptibility to, 4} MIM#609753 to Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related",
"entity_name": "MYO9B",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:58:50.581713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1347",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYO9B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9B",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:58:34.767274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1346",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MYO9B as Amber List (moderate evidence)",
"entity_name": "MYO9B",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:58:34.755389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1346",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: myo9b has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYO9B",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:57:50.631957+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZEB1 were set to 24780443; 28284480; 28742278",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:55:54.577515+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.507",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "changed review comment from: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with a loss of function in ZEB1 gene. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.; to: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:55:52.629681+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation; immunodeficiency to ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:55:08.879752+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAN2B2 were set to 31775018",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:55:04.663688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1345",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: MYO9B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36260368; Phenotypes: Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9B",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:54:51.211320+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.507",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "changed review comment from: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All patients reported had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrates the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth, which suggests a larger spectrum of malformations related to ZEB1.; to: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with a loss of function in ZEB1 gene. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:54:32.092236+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2B2 as Amber List (moderate evidence)",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:54:32.083903+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:54:03.132447+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5606",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AGPAT3 as Amber List (moderate evidence)",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:54:03.112345+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5606",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agpat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:53:44.073449+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2B2: Added comment: PMID:35637269 describes a second case of a patient with developmental delay and dysmorphic features, but no immune phenotype with compound heterozygous variants (p.Ser147del and p.Glu790Lys).; Changed rating: AMBER; Changed publications: 31775018, 35637269; Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:42.335389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation; immunodeficiency to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; immunodeficiency",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:41.151787+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.507",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PAK1 as Green List (high evidence)",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:41.141168+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.507",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pak1 has been classified as Green List (High Evidence).",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:40.117552+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.136",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PAK1 as Green List (high evidence)",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:40.040843+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.136",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pak1 has been classified as Green List (High Evidence).",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:29.633251+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.506",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PAK1 as ready",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:29.614859+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.506",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pak1 has been removed from the panel.",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:16.854320+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.135",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PAK1 as ready",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:51:16.843952+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.135",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pak1 has been removed from the panel.",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:50:19.371999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1344",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: HEPHL1 as ready",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:50:19.362960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1344",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: hephl1 has been classified as Red List (Low Evidence).",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:50:12.285836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1344",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: HEPHL1 as Red List (low evidence)",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:50:12.274626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1344",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: hephl1 has been classified as Red List (Low Evidence).",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:49:48.828081+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.70",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: HEPHL1 as ready",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:49:48.816749+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.70",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: hephl1 has been classified as Red List (Low Evidence).",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:49:44.986621+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.70",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: HEPHL1 as Red List (low evidence)",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:49:44.966276+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.70",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: hephl1 has been classified as Red List (Low Evidence).",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:50.866944+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.21",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: POLE as ready",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:50.851174+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.21",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pole has been classified as Red List (Low Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:41.432512+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.21",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: POLE as Red List (low evidence)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:41.400428+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.21",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pole has been classified as Red List (Low Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:20.336394+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MIEF1 as ready",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:20.322327+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mief1 has been classified as Red List (Low Evidence).",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:14.998782+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.23",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MIEF1 as ready",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:14.990128+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.23",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mief1 has been classified as Red List (Low Evidence).",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:10.348753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1343",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MIEF1 as ready",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:10.336626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1343",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mief1 has been classified as Red List (Low Evidence).",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:48:02.549107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1343",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ELP1 were changed from Dysautonomia, familial MIM#223900; paediatric medulloblastoma to Dysautonomia, familial MIM#223900; paediatric medulloblastoma; neurodevelopmental disorder, MONDO:0700092, ELP1-related",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:47:51.279004+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.54",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: POLE as ready",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:47:51.260993+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.54",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pole has been classified as Red List (Low Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:47:47.784487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1342",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: ELP1 were set to 11179008; 32296180",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:47:42.797795+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.54",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: POLE as Red List (low evidence)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:47:42.781065+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.54",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pole has been classified as Red List (Low Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:47:25.301733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAN2B2 were set to 31775018",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:47:15.840656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1340",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: None; Publications: 36864284; Phenotypes: neurodevelopmental disorder, MONDO:0700092, ELP1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:55.970189+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.298",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: ELP1 as ready",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:55.959785+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.298",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Red List (Low Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
}
]
}