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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=403",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=401",
"results": [
{
"created": "2024-08-23T11:50:50.675825+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB32",
"entity_type": "gene"
},
{
"created": "2024-08-23T11:50:09.832242+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB32: Rating: AMBER; Mode of pathogenicity: None; Publications: 38858457; Phenotypes: {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB32",
"entity_type": "gene"
},
{
"created": "2024-08-23T08:50:28.234386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1962",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: VPS52 as ready",
"entity_name": "VPS52",
"entity_type": "gene"
},
{
"created": "2024-08-23T08:50:28.208652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1962",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps52 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS52",
"entity_type": "gene"
},
{
"created": "2024-08-23T08:49:50.302823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1962",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VPS52 as Amber List (moderate evidence)",
"entity_name": "VPS52",
"entity_type": "gene"
},
{
"created": "2024-08-23T08:49:50.291098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1962",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps52 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS52",
"entity_type": "gene"
},
{
"created": "2024-08-23T08:49:24.108952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1961",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS52 was added\ngene: VPS52 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: VPS52 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS52 were set to complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100465\nReview for gene: VPS52 was set to AMBER\nAdded comment: HGSA poster (P110) from Louise Bicknell's group at the University of Otago. 11 cases from 8 families (USA, NZ, Saudi Arabia) with a broad syndromic developmental delay phenotype with biallelic variants (both missense & truncating). \nSources: Other",
"entity_name": "VPS52",
"entity_type": "gene"
},
{
"created": "2024-08-23T07:27:31.480581+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: CACNA1D: Added comment: 2nd case reported of child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay. WES identified a de novo CACNA1D mutation (p.G403D). CACNA1D encodes the main L-type voltage-gated calcium channel in the pancreatic β-cell, a key component of the insulin secretion pathway. The p.G403D mutation had been reported previously as an activating mutation in an individual with primary hyper-aldosteronism, neuromuscular abnormalities, and transient hypoglycaemia.; Changed mode of pathogenicity: Other; Changed phenotypes: hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2024-08-23T07:22:22.383494+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MAFA as Green List (high evidence)",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2024-08-23T07:22:22.372884+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mafa has been classified as Green List (High Evidence).",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2024-08-23T07:21:51.246290+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MAFA was added\ngene: MAFA was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAFA were set to PMID: 29339498\nPhenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, OMIM #:147630\nReview for gene: MAFA was set to GREEN\ngene: MAFA was marked as current diagnostic\nAdded comment: 2 families with 36 individuals with AD inheritance of diabetes mellitus or insulinomatosis (adult-onset recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumours of pancreas). WES identified the same missense MAFA mutation (p.Ser64Phe, c.191C>T) segregating with both phenotypes of insulinomatosis and diabetes in both families. The p.Ser64Phe mutation was found to impair phosphorylation within the transactivation domain of MAFA and profoundly increased MAFA protein stability under both high and low glucose concentrations in β-cell lines. In addition, the transactivation potential of p.Ser64Phe MAFA in β-cell lines was enhanced compared with wild-type MAFA. The human phenotypes associated with the p.Ser64Phe MAFA missense mutation reflect both the oncogenic capacity of MAFA and its key role in islet β-cell activity. \nSources: Literature",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2024-08-22T21:07:11.983420+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"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": "2024-08-22T21:05:34.278588+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-08-22T18:58:58.249055+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RIT1 as ready",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:58:58.233179+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rit1 has been classified as Green List (High Evidence).",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:58:45.375039+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RIT1 as Green List (high evidence)",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:58:45.349461+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rit1 has been classified as Green List (High Evidence).",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:58:01.314677+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RIT1 was added\ngene: RIT1 was added to Hypertrophic cardiomyopathy_HCM. Sources: ClinGen\nMode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RIT1 were set to 39132495\nPhenotypes for gene: RIT1 were set to Noonan syndrome MONDO:0018997\nMode of pathogenicity for gene: RIT1 was set to Other\nReview for gene: RIT1 was set to GREEN\ngene: RIT1 was marked as current diagnostic\nAdded comment: Included as one of the recommended 29 HCM genes to test by the ClinGen HCVD GCEP due to syndromic LVH being a feature of the condition that can be mistaken for HCM \nSources: ClinGen",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:55:29.037180+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RAF1 were set to 24777450",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:54:18.839090+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAF1 as Green List (high evidence)",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:54:18.829553+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included as one of the recommended 29 HCM genes to test by the ClinGen HCVD GCEP due to syndromic LVH being a feature of the condition that can be mistaken for HCM",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:54:18.739988+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:53:13.148141+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PTPN11 were set to ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:52:26.754369+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Green List (high evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:52:26.748286+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included as one of the recommended 29 HCM genes to test by the ClinGen HCVD GCEP due to syndromic LVH being a feature of the condition that can be mistaken for HCM",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:52:26.696055+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:42:01.155916+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DES were set to ",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:41:07.070912+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DES were changed from Hypertrophic cardiomyopathy; Dilated cardiomyopathy; Myofibrillar myopathy; ARVC to Desminopathy",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:40:17.827231+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DES as Green List (high evidence)",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:40:17.820219+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included as one of the 29 recommended HCM genes to test by the ClinGen HCVD GCEP for a syndromic LVH association - LV cardiomyopathy (including hypertrophy, dilation, restrictive, hypertrabeculation/ LVNC) is part of the phenotype of desminopathy",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:40:17.760771+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:36:50.645038+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DES was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:35:44.472607+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to 26253506; 28490369; 28866666",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:34:49.237192+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CACNA1C as Green List (high evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:34:49.231257+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Classified as Definitive by the ClinGen HCVD GCEP for Timothy Syndrome, including left ventricular hypertrophy as a feature of the condition associated with some specific missense variants - https://search.clinicalgenome.org/CCID:008324. One of the 29 recommended HCM genes.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:34:49.184943+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Green List (High Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:27:57.328440+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UQCRFS1 as Red List (low evidence)",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:27:57.319819+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Paediatric onset condition. This gene is on the paediatric cardiomyopathy panel. Not one of the 29 genes recommended for HCM testing by the ClinGen HCVD GCEP.",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:27:57.248957+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: uqcrfs1 has been classified as Red List (Low Evidence).",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:24:30.093566+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TULP3 as Amber List (moderate evidence)",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:24:30.088438+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Currently, only 3 adult individuals from 2 unrelated families presented with hypertrophic non-obstructive cardiomyopathy (HNCM). More evidence required for the HCM association",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:24:30.032764+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tulp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:11:59.492990+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C1QBP as Red List (low evidence)",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:11:59.487762+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Paediatric onset condition. Has been moved to the paediatric cardiomyopathy panel. Not one of the 29 genes the ClinGen HCVD GCEP recommends for HCM testing",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:11:59.449787+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Red List (Low Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:10:14.675875+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C1QBP as Green List (high evidence)",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:10:14.658954+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2024-08-22T18:09:07.142608+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C1QBP was added\ngene: C1QBP was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1QBP were set to 28942965\nPhenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2024-08-22T17:59:43.859011+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYH6 as ready",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2024-08-22T17:59:43.845553+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myh6 has been classified as Red List (Low Evidence).",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2024-08-22T17:59:31.225601+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYH6 as Red List (low evidence)",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2024-08-22T17:59:31.204610+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen HCVD GCEP has classified the HCM association as Disputed (https://search.clinicalgenome.org/CCID:008325) and the DCM association as Limited (https://search.clinicalgenome.org/CCID:005520)",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2024-08-22T17:59:31.144242+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myh6 has been classified as Red List (Low Evidence).",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2024-08-22T17:43:16.185924+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RPS6KB1 as Amber List (moderate evidence)",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2024-08-22T17:43:16.175998+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen HCVD GCEP has classified this gene as Limited for HCM on 13/09/2023 - https://search.clinicalgenome.org/CCID:006034",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2024-08-22T17:43:16.079159+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rps6kb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2024-08-22T16:51:01.113805+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.236",
"user_name": "Lana Giameos",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33644825, 23404334, 24461433, 12684507, 30397276, 34980536, 34106226; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906, Myasthenic syndrome, congenital, 14, MIM# 616228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:46:31.013187+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYSF as ready",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:46:30.990931+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dysf has been classified as Green List (High Evidence).",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:46:26.681594+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYSF were changed from Muscular dystrophy, limb-girdle, type 2B, 253601 (3) to Miyoshi muscular dystrophy 1 MIM#254130; MONDO:0024545; Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601; MONDO:0009676; Myopathy, distal, with anterior tibial onset MIM#606768; MONDO:0011721",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:46:09.118048+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYSF were set to ",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:45:53.234988+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:29:42.790719+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.234",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 37762951, 38540676, 36542547, 32400077; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:27:38.810463+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.234",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:09:10.158971+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:09:10.138712+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 is the appropriate term to use.",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:09:10.058107+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T12:08:51.625218+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency, 256000 (3) to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:57:38.293738+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIF1B as ready",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:57:38.282628+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Red List (Low Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:57:35.415663+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIF1B were changed from Abnormality of movement; Seizures; Failure to thrive; Spasticity; Central hypotonia; Intellectual disability; Global developmental delay; Microcephaly to Kaya-Barakat-Masson syndrome, MIM# 619125",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:56:15.451390+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP2 as ready",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:56:15.434787+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp2 has been classified as Red List (Low Evidence).",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:55:42.685351+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:55:42.664814+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Red List (Low Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:55:11.040751+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFF2 as ready",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:55:11.018936+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aff2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:55:06.700912+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type, #309548 to Intellectual disability, X-linked, FRAXE type 309548",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:54:54.373063+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFF2 were set to ",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:54:41.974269+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AFF2 as Amber List (moderate evidence)",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:54:41.956290+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aff2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:54:29.307080+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:52:09.099980+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACY1 as ready",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:52:09.084378+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acy1 has been classified as Red List (Low Evidence).",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:51:34.359128+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:51:27.970978+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "commented on gene: DYSF: Miyoshi myopathy (MM) is the most common form of recessive distal myopathy in populations with founder mutations such as Libyan and Israeli Jewish population, Italian and Spanish populations.The typical age of onset of MM lies between 15 and 30 years\r\n\r\nAutosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.\r\n\r\nMyopathy, distal, with anterior tibial onset is a rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.\r\n\r\nHGNC approved symbol/name: DYSF\r\nIs the phenotype(s) severe and onset <18yo ? ? chidhood, early adulthood to late onset\r\nKnown technical challenges? N but large‐scale copy number variants have been identified.\r\nGene reported in >3 independent families \r\n\r\nUnsure due genotype/phenotype correlation and onset",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:51:26.097082+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: DYSF: Rating: AMBER; Mode of pathogenicity: None; Publications: 37762951, 38540676, 36542547, 32400077; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:46:43.135608+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:46:43.117310+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:46:40.424829+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:46:26.161533+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from LIG4 syndrome, 606593 (3) to LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:46:14.396837+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:45:49.754443+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: LIG4: Congenital onset, presents with combined immunodeficiency and features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay.",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:45:10.749002+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:32:22.470500+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECHS1 as ready",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:32:22.449133+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:32:19.502617+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ECHS1 were set to ",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:26:59.803414+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CHM.",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:26:16.505436+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CISD2 as ready",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:26:16.493510+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cisd2 has been classified as Green List (High Evidence).",
"entity_name": "CISD2",
"entity_type": "gene"
}
]
}