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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=215",
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"results": [
{
"created": "2025-06-04T18:40:52.373099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLK as ready",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:40:52.364759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slk has been classified as Green List (High Evidence).",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:40:41.722250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLK as Green List (high evidence)",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:40:41.712708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slk has been classified as Green List (High Evidence).",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:40:25.091232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLK was added\ngene: SLK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLK were set to 40347834\nPhenotypes for gene: SLK were set to Neurodevelopmental disorder, MONDO:0700092, SLK-related\nReview for gene: SLK was set to GREEN\nAdded comment: Three affected individuals from three unrelated families reported. Two of the families were consanguineous and homozygous LoF variants were present in the probands. Third individual had compound het missense variants. Functional data from a Drosophila model and transdifferentiated neurons. \nSources: Literature",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:40:07.415628+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLK as ready",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:40:07.390205+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slk has been classified as Green List (High Evidence).",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:39:00.853469+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLK as Green List (high evidence)",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:39:00.837320+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slk has been classified as Green List (High Evidence).",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T18:38:34.852776+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLK was added\ngene: SLK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLK were set to 40347834\nPhenotypes for gene: SLK were set to Neurodevelopmental disorder, MONDO:0700092, SLK-related\nReview for gene: SLK was set to GREEN\nAdded comment: Three affected individuals from three unrelated families reported. Two of the families were consanguineous and homozygous LoF variants were present in the probands. Third individual had compound het missense variants. Functional data from a Drosophila model and transdifferentiated neurons. \nSources: Literature",
"entity_name": "SLK",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:49:28.059881+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.446",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERBB2 as ready",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:49:28.052824+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.446",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erbb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:49:19.335179+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.446",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERBB2 as Amber List (moderate evidence)",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:49:19.320944+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.446",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erbb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:47:45.273163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2617",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERBB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:47:31.830636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2616",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ERBB2 were set to ",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:47:14.953533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2615",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB2 were changed from Visceral neuropathy, familial, 2, autosomal recessive, MIM#\t619465 to Visceral neuropathy, familial, 2, autosomal recessive, MIM#\t619465; Congenital heart disease - left ventricular outflow tract obstruction defects; MONDO:0005453",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:46:58.840797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2614",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERBB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:46:43.557790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2613",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERBB2 as Amber List (moderate evidence)",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:46:43.549845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2613",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erbb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:45:37.601346+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.445",
"user_name": "Eleanor Ludington",
"item_type": "entity",
"text": "gene: ERBB2 was added\ngene: ERBB2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ERBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERBB2 were set to 40329538\nPhenotypes for gene: ERBB2 were set to Congenital heart disease - left ventricular outflow tract obstruction defects; MONDO:0005453\nReview for gene: ERBB2 was set to AMBER\nAdded comment: A missense single-nucleotide variant in ERBB2 (chr17:39717377 C>T, NM_004448.4:c.1795C>T, p. Arg599Cys (GRCh38), rs369903296) was identified in 3 unrelated Finnish probands with left ventricular outflow tract obstruction defects.\r\n- all 3 probands were familial cases with multiple affected family members\r\n- all 3 probands had severe phenotypes (diagnosed either prenatally or in the first days of life)\r\n- Proband of family 1: hypoplastic left heart syndrome (HLHS; including BAV, hypoplastic aortic arch, coarctation of the aorta, ASD, left superior vena cava)\r\n- Proband of family 2: Shone's complex and VSD including aortic valve stenosis, mitral stenosis, coarctation of the aorta\r\n- Proband of family 3: HLHS (including mitral valve stenosis, BAV, aortic valve stenosis, muscular VSD)\r\n\r\nThe variant segregated in affected family members of each proband who had other less severe congenital heart disease\r\n- Family 1 grandfather - coarctation of the aorta\r\n- Family 2 mother - coarctation of the aorta, BAV\r\n- Family 3 mother - coarctation of the aorta, BAV\r\n- Family 1 father - BAV\r\n- Family 2 maternal grandfather - asymmetric aortic valve\r\nThe variant also segregated in two unaffected family members in family 2, suggesting reduced penetrance.\r\n\r\nThe variant is present in gnomAD with a total allele frequency of 0.00009372 in Finnish Europeans and 0.000004340 across all populations.\r\n\r\nSupportive functional assays and a Zebrafish model was conducted. \nSources: Literature",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T13:41:04.986823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2612",
"user_name": "Eleanor Ludington",
"item_type": "entity",
"text": "reviewed gene: ERBB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40329538; Phenotypes: Congenital heart disease - left ventricular outflow tract obstruction defects, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2025-06-04T09:53:10.286278+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.92",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TAF1C was added\ngene: TAF1C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF1C were set to 40371665; 32779182\nPhenotypes for gene: TAF1C were set to complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038\nReview for gene: TAF1C was set to GREEN\nAdded comment: 3 unrelated individuals with spasticity and hypotonia as a presenting feature. \r\n\r\nPMID: 40371665\r\n3yrM with progressive neurodevelopmental regression born to non consanguineous parents.\r\nHe presented with a range of phenotypes:\r\n- generalized tonic–clonic seizures\r\n- some abnormal brain MRI findings however preserved cognitive function\r\n- progressive spasticity, increased muscle tone in all limbs, tremors, chronic constipation, feeding difficulties\r\n- microcephalic, recurrent febrile episodes, splenomegaly and cerebellar atrophy\r\n\r\nHomozygous p.Ser589Leu variant was reported (not reported on MANE select)\r\nThis variant is present in gnomAD v4.1, rare enough for AR gene (Ser563Leu - MANE select)\r\nNFE PopMax AF = 0.006%, 76 hets globally\r\nHis unaffected parents were heterozygous for the variant (carriers).\r\n\r\nPMID: 32779182\r\nTwo individuals from two consanguineous families presenting with a range of neurodevelopmental features including spasticity and hypotonia \nSources: Literature",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2025-06-04T09:41:29.534356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2612",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TAF1C: Changed phenotypes: complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2025-06-04T09:41:22.415011+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.151",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TAF1C: Changed phenotypes: complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2025-06-04T09:41:15.682128+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.151",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TAF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 40371665; Phenotypes: complex neurodevelopmental disorder, TAF1C-realted, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2025-06-04T09:38:39.154510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2612",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TAF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 40371665; Phenotypes: complex neurodevelopmental disorder, TAF1C-realted, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:41:47.324155+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POPDC2 as Amber List (moderate evidence)",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:41:47.297823+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:41:34.028189+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POPDC2 as Amber List (moderate evidence)",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:41:34.021180+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:41:21.786438+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POPDC2 as Amber List (moderate evidence)",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:41:21.766760+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:41:08.863235+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POPDC2 as Amber List (moderate evidence)",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:41:08.853731+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:40:57.596532+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POPDC2 as Amber List (moderate evidence)",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:40:57.589079+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:40:45.572539+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POPDC2 as Amber List (moderate evidence)",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:40:45.564579+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:40:17.705639+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: POPDC2 was added\ngene: POPDC2 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POPDC2 were set to PMID: 40409267\nPhenotypes for gene: POPDC2 were set to Hypertrophic cardiomyopathy MONDO:0005045, POPDC2-related\nReview for gene: POPDC2 was set to AMBER\nAdded comment: 6 individuals from 4 families with biallelic variants in POPDC2 and sinus node dysfunction (4/6), AV conduction defects (6/6), and hypertrophic cardiomyopathy (2/6). The variants (2 missense, 2 truncating, 1 indel) are predicted to diminish the ability of POPDC2 to bind cAMP. Muscle biopsy of an affected individual did not show clear myopathic disease. None of the familial variants were associated with clinical outcomes in heterozygous state, (using population-level genetic data of > 1 million individuals). \nSources: Literature",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:27:32.313701+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.445",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RREB1 as Green List (high evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:27:32.306837+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.445",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Green List (High Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:27:10.099866+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.444",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RREB1 was added\ngene: RREB1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RREB1 were set to PMID: 40418122, 38332451\nPhenotypes for gene: RREB1 were set to Rasopathy, MONDO:0021060, RREB1-related\nReview for gene: RREB1 was set to GREEN\nAdded comment: 7 individuals with truncating variants in RREB1 gene and Rasopathy phenotype: congenital heart disease, genitourinary malformations, dental anomalies, developmental delay, short stature, and facial/musculoskeletal features reminiscent of Noonan syndrome. 5/7 variants were de novo, 1/7 inherited from father, and 1/7 not present in available parent. RREB1 encodes a transcriptional repressor of Ras-MAPK signaling. In vitro models of RREB1 deficiency demonstrate dysregulated Ras-MAPK signaling. Mouse models of RREB1 haploinsufficiency have RASopathy features (hypertelorism, short stature, and cardiac hypertrophy). \nSources: Literature",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:24:50.535178+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.152",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RREB1 as Green List (high evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:24:50.523624+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.152",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Green List (High Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:24:38.581832+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.152",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RREB1 as Green List (high evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:24:38.571449+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.152",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Green List (High Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:24:18.465530+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.365",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RREB1 as Green List (high evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:24:18.458768+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.365",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Green List (High Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:24:04.359277+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.364",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RREB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40418122; Phenotypes: Rasopathy, MONDO:0021060, RREB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:24:01.169345+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.151",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RREB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40418122; Phenotypes: Rasopathy, MONDO:0021060, RREB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:22:56.224799+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2612",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RREB1 as Green List (high evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:22:56.214382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2612",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Green List (High Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:22:51.206633+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.106",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RREB1 as Green List (high evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:22:51.199463+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.106",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Green List (High Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:22:30.834964+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2611",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RREB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40418122; Phenotypes: Rasopathy, MONDO:0021060, RREB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:21:58.791855+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RREB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40418122; Phenotypes: Rasopathy, MONDO:0021060, RREB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:13:02.666348+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEF1 were changed from Syndromic disease, MONDO:0002254, LEF1-related to Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:12:48.338439+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LEF1: Changed phenotypes: Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:12:29.620483+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEF1 were changed from Syndromic disease, MONDO:0002254, LEF1-related to Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:12:15.958357+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LEF1: Changed phenotypes: Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:11:57.118437+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEF1 were changed from Syndromic disease, MONDO:0002254, LEF1-related to Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:11:27.761194+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LEF1: Changed phenotypes: Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:11:11.346724+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEF1 were changed from Syndromic disease, MONDO:0002254, LEF1-related to Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:10:45.874520+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LEF1: Changed phenotypes: Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:07:17.247233+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:06:54.331606+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LEF1: Changed phenotypes: Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:06:34.655628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEF1 were changed from Syndromic disease, MONDO:0002254, LEF1-related to Ectodermal dysplasia 17 with or without limb malformations, MIM#\t621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T21:06:12.324754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LEF1: Changed phenotypes: Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2025-06-03T19:56:47.122503+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GON4L were changed from complex neurodevelopmental disorder MONDO:0100038 to Li-Takada-Miyake syndrome, MIM# 621212",
"entity_name": "GON4L",
"entity_type": "gene"
},
{
"created": "2025-06-03T19:56:32.636105+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GON4L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Takada-Miyake syndrome, MIM# 621212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GON4L",
"entity_type": "gene"
},
{
"created": "2025-06-03T19:56:07.892150+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GON4L were changed from complex neurodevelopmental disorder MONDO:0100038 to Li-Takada-Miyake syndrome, MIM# 621212",
"entity_name": "GON4L",
"entity_type": "gene"
},
{
"created": "2025-06-03T19:55:39.299641+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GON4L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Takada-Miyake syndrome, MIM# 621212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GON4L",
"entity_type": "gene"
},
{
"created": "2025-06-03T19:55:10.559605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GON4L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Takada-Miyake syndrome, MIM# 621212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GON4L",
"entity_type": "gene"
},
{
"created": "2025-06-03T19:54:48.661067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GON4L were changed from complex neurodevelopmental disorder MONDO:0100038 to Li-Takada-Miyake syndrome, MIM#\t621212",
"entity_name": "GON4L",
"entity_type": "gene"
},
{
"created": "2025-06-03T17:06:46.245027+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.150",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33824499; Phenotypes: intellectual disability, ocular anomalies, heart defects, growth failure, kidney anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2025-06-03T15:11:14.679526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2609",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKAP was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-06-03T15:10:41.156735+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: NKAP were changed from Intellectual disability to intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type, MONDO:0026733, MIM#301039",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-06-03T15:10:12.484304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2608",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: NKAP were changed from Intellectual disability to intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type, MONDO:0026733, MIM#301039",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-06-03T15:09:55.722195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2607",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKAP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-06-02T20:55:15.956244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2606",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL7 were changed from Hennekam lymphangiectasia-lymphedema syndrome to Hennekam lymphangiectasia-lymphedema syndrome MONDO:0016256",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2025-06-02T20:51:19.900012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2605",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAAH2 were changed from to autism spectrum disorder MONDO:0005258",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2025-06-02T20:42:49.179578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2604",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ESRP2 were changed from Cleft lip to Orofacial cleft MONDO:0000358",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2025-06-02T20:35:44.637134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2603",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERGIC3 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092",
"entity_name": "ERGIC3",
"entity_type": "gene"
},
{
"created": "2025-06-01T15:23:52.646218+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DNA2 as ready",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-06-01T15:23:52.636293+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-06-01T15:23:48.674060+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DNA2 as Amber List (moderate evidence)",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-06-01T15:23:48.664840+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-06-01T15:22:20.312372+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNA2 was added\ngene: DNA2 was added to Ectodermal Dysplasia. Sources: Literature\nMode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNA2 were set to 37055165\nPhenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:56:32.011237+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"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": "2025-05-31T11:29:33.856834+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SNAI2 as ready",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:33.850092+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:31.088728+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SNAI2 as Amber List (moderate evidence)",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:31.078975+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:22.918936+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EDNRB as ready",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:22.909430+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:20.167680+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EDNRB as Green List (high evidence)",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:20.160531+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:11.787706+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EDN3 as ready",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2025-05-31T11:29:11.774636+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Green List (High Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
}
]
}