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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=328",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=326",
"results": [
{
"created": "2024-12-10T10:49:19.509442+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.112",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CHUK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34533979; Phenotypes: Combined immunodeficiency, MONDO:0015131, CHUK-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:49:17.636599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2199",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CHUK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34533979; Phenotypes: Combined immunodeficiency, MONDO:0015131, CHUK-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:09:53.650877+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2199",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDE12 was added\ngene: PDE12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE12 were set to PMID: 39567835\nPhenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970\nReview for gene: PDE12 was set to GREEN\nAdded comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).\r\n-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.\r\n-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron\r\ntransfer chain activities in fibroblasts.\r\n-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).\r\n\r\nWES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity.\r\n\r\nPDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein. \nSources: Literature",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:07:57.965403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RUNX1T1 as Green List (high evidence)",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:07:57.953412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: runx1t1 has been classified as Green List (High Evidence).",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:07:31.181541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2197",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RUNX1T1 was added\ngene: RUNX1T1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RUNX1T1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RUNX1T1 were set to PMID: 39568205, 19172993, 22644616, 31223340\nPhenotypes for gene: RUNX1T1 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: RUNX1T1 was set to GREEN\nAdded comment: RUNX1T1 encodes a transcription regulator for hematopoietic genes and is well-known for its involvement in hematologic malignancies. Germline RUNX1T1 variants may also play a role in human congenital neurodevelopmental disorders.\r\n\r\nPMID: 39568205\r\n3 unrelated individuals with developmental delay, learning disability, ASD, ADHD, and dysmorphism (1 x heart defects). Trio WES identified de novo variants in RUNX1T1 gene (1 x nonsense variant in 5' region [p.Gln36Ter], 2 x missense variants in C-terminus [p.Gly412Arg and p.His521Tyr]).\r\n\r\nPMID: 19172993\r\n1 individual with mild-moderate ID and congenital heart disease, and chromosome t(5;8)(q32;q21.3) translocation. Molecular characterization revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development.\r\n\r\nPMID: 22644616\r\n1 individual with mild ID and dysmorphism, and de novo deletion exons 3-7 in RUNX1T1.\r\n\r\nPMID: 31223340\r\n1 individual with ID, anaemia, atrial septal defect, dysmorphism, and seizures. Found to have a 2.1 Mb deletion at 8q21.3q22.1 involving entire RUNX1T1 gene (and 2 adjacent genes - SLC26A7 and TRIQK), and a benign familial 4.3 Mb duplication at 1p22.1p21.3 (present in unaffected healthy brother). \nSources: Literature",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:07:27.764983+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27208207, 27696117, 30114719; Phenotypes: 3-methylglutaconic aciduria type 8 MONDO:0044723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-12-10T09:12:03.415144+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RUNX1T1 as Green List (high evidence)",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T09:12:03.402217+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: runx1t1 has been classified as Green List (High Evidence).",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T09:11:15.854390+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RUNX1T1 was added\ngene: RUNX1T1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RUNX1T1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RUNX1T1 were set to PMID: 39568205, 19172993, 22644616, 31223340\nPhenotypes for gene: RUNX1T1 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: RUNX1T1 was set to GREEN\nAdded comment: RUNX1T1 encodes a transcription regulator for hematopoietic genes and is well-known for its involvement in hematologic malignancies. Germline RUNX1T1 variants may also play a role in human congenital neurodevelopmental disorders.\r\n\r\nPMID: 39568205\r\n3 unrelated individuals with developmental delay, learning disability, ASD, ADHD, and dysmorphism (1 x heart defects). Trio WES identified de novo variants in RUNX1T1 gene (1 x nonsense variant in 5' region [p.Gln36Ter], 2 x missense variants in C-terminus [p.Gly412Arg and p.His521Tyr]). \r\n\r\nPMID: 19172993\r\n1 individual with mild-moderate ID and congenital heart disease, and chromosome t(5;8)(q32;q21.3) translocation. Molecular characterization revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development.\r\n\r\nPMID: 22644616\r\n1 individual with mild ID and dysmorphism, and de novo deletion exons 3-7 in RUNX1T1.\r\n\r\nPMID: 31223340\r\n1 individual with ID, anaemia, atrial septal defect, dysmorphism, and seizures. Found to have a 2.1 Mb deletion at 8q21.3q22.1 involving entire RUNX1T1 gene (and 2 adjacent genes - SLC26A7 and TRIQK), and a benign familial 4.3 Mb duplication at 1p22.1p21.3 (present in unaffected healthy brother). \nSources: Literature",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T08:52:06.784983+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.959",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDE12 was added\ngene: PDE12 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE12 were set to PMID: 39567835\nPhenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970\nReview for gene: PDE12 was set to GREEN\nAdded comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).\r\n-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.\r\n-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron \r\ntransfer chain activities in fibroblasts.\r\n-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).\r\n\r\nWES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity. \r\n\r\nPDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein. \nSources: Literature",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T08:51:24.936784+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.959",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDE12 was added\ngene: PDE12 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE12 were set to PMID: 39567835\nPhenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970\nReview for gene: PDE12 was set to GREEN\nAdded comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).\r\n-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.\r\n-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron \r\ntransfer chain activities in fibroblasts.\r\n-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).\r\n\r\nWES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity. \r\n\r\nPDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein. \nSources: Literature",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T08:34:54.449168+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116, 35937492, 34514040, 1353343; Phenotypes: GM1 gangliosidosis type 3 MONDO:0009262; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-12-09T18:02:11.044953+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 36334884; Phenotypes: Microcephaly 6, primary MIM#608393, Seckel syndrome 4 MIM#613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2024-12-09T17:29:22.902349+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29271567; Phenotypes: Elsahy-Waters syndrome MIM#211380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2024-12-09T16:18:01.515903+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32777384, 21912879, 31536184; Phenotypes: glutaryl-CoA dehydrogenase deficiency MONDO:0009281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-12-09T16:04:44.821051+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2024-12-09T15:46:42.974451+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438811, 15099026, 12746423, 18413574; Phenotypes: neuroferritinopathy MONDO:0011638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-12-09T14:38:21.383574+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068277, 20104589, 20853438, 31135052; Phenotypes: hereditary spastic paraplegia 35 MONDO:0012866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2024-12-09T14:03:51.777901+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 39007626, 20022530, 16049940; Phenotypes: pyruvate dehydrogenase E2 deficiency MONDO:0009502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:32:03.964915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPZA2 were set to 32338762",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:31:33.856839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPZA2 as Green List (high evidence)",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:31:33.843373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capza2 has been classified as Green List (High Evidence).",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:31:01.824921+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPZA2 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:30:16.714320+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPZA2 were set to 32338762",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:29:24.382330+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPZA2 as Green List (high evidence)",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:29:24.367269+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capza2 has been classified as Green List (High Evidence).",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:28:11.450982+11:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:28:11.441810+11:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:28:09.246663+11:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from CORONARY ARTERY DISSECTION, SPONTANEOUS MIM#122455 to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:27:55.890462+11:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A1 as Green List (high evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:27:55.871227+11:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:27:47.503608+11:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:22:29.544412+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-09T13:09:45.409562+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23364476, 23985994, 26491832; Phenotypes: Albinism, oculocutaneous, type VI MIM#113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2024-12-09T13:04:40.823556+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 10072434, 10051646, 10425211, 10480371, 10679939, 9837751, 23379544, 31399326, 25778941, 17884651, 22420015; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2024-12-09T12:57:01.886682+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25390740, 20301549, 36082648, 35729663; Phenotypes: Monocarboxylate transporter 1 deficiency MIM#616095; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2024-12-09T12:36:49.760213+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 6306053, 9771704, 11049992, 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1 MIM#308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-09T12:33:22.848752+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2024-12-09T12:31:25.022756+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15210538, 18924171, 22231385, 10545952, 10749987; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-12-09T12:25:06.028766+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2024-12-09T12:17:45.398892+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 25846674, 26290468, 29066376, 35876338; Phenotypes: Intellectual developmental disorder, X-linked syndromic 35 MIM#300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2024-12-09T12:01:40.733658+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16532399, 20967465, 23420520, 32740904, 32376645, 24891604; Phenotypes: Warburg micro syndrome MONDO:0016649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2024-12-09T11:53:50.071815+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24656866, 27717089, 31618474, 25471517, 25432320, 24656866, 28620870, 25041233, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2024-12-09T11:51:45.942736+11:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.54",
"user_name": "Stephanie Hesselson",
"item_type": "entity",
"text": "gene: COL4A1 was added\ngene: COL4A1 was added to Spontaneous coronary artery dissection. Sources: Other\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A1 were set to PMID: 35583931, 35234813, 37248441\nPhenotypes for gene: COL4A1 were set to CORONARY ARTERY DISSECTION, SPONTANEOUS MIM#122455\nPenetrance for gene: COL4A1 were set to unknown\nReview for gene: COL4A1 was set to GREEN\nAdded comment: It is possible that rare and common variants in COL4A1 contribute to SCAD risk.\r\n\r\n5 individuals with SCAD have been found to carry a LP variant:\r\n\r\nPMID: 35234813 reports 3x SCAD participants with a LP variant in COL4A1 p.Gly1484Arg, p.Gly495Arg, and p.Gly160Asp\r\n\r\nPMID 35583931 reports 2x SCAD participants with LP variants in COL4A1 p.Gly1198Arg and p.Ala1626Gly \r\n\r\nIn a meta-GWAS for SCAD, the COL4A1/COL4A2 locus accounted for the second largest proportion of heritability for SCAD in the dataset. It contained two independent GWAS signals at this locus. (PMID 37248441) \nSources: Other",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-12-09T11:48:39.354938+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19595804, 26199792, 30070073, 19487666, 26184781, 10583959, 19487666; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2 MIM#603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2024-12-09T11:40:15.603735+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15792865, 22549409, 31311558, 20065251, 25088310, 19299310, 19299310; Phenotypes: Myopathy caused by variation in POMT1 MONDO:0700070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-12-09T11:24:56.296559+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).\r\n- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.\r\nPMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified. \r\n- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.\r\n\r\nFurther studies and evidence:\r\nMouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)\r\nFunctional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.\r\n\r\nClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants curated were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).\r\n\r\nRP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.; to: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).\r\n- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.\r\nPMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified. \r\n- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.\r\n\r\nAge of onset:\r\nPMID 34990796 - 16yo had night blindness and photophobia. Had 22y.o. sibling that was severely affected. Age of initial onset of visual symptoms said to be ~2-4 years of age.\r\nPMID 31264916 - 8y.o. with photophobia and myopia, 4y.o. with light sensitivity. 17yo with poor vision 'since childhood', 17yo with poor vision since birth and poor night vision, 45yo with poor night vision - starting at 6yo and progressing loss of central vision.\r\nPMID 24876279 - age of onset of patients studied: 1, 5, 6, 1, 2, 3, 2, 3, 1, 4, 1, 2, 1, 2, 6, 1, 1. Symptoms variable, including night blindness, decrease of visual acuity, loss of visual field.\r\n\r\nFurther studies and evidence:\r\nMouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)\r\nFunctional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.\r\n\r\nClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants curated were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).\r\n\r\nRP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2024-12-09T10:59:09.262502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.19",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "reviewed gene: CAPZA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32338762, 38374166, 35856264; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T10:58:11.576547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2194",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "reviewed gene: CAPZA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32338762, 38374166, 35856264; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CAPZA2",
"entity_type": "gene"
},
{
"created": "2024-12-09T10:43:11.085901+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP25 as ready",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-12-09T10:43:11.062456+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp25 has been classified as Green List (High Evidence).",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-12-09T08:46:39.686829+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SQSTM1 as ready",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-12-09T08:46:39.670146+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-12-09T08:42:33.431349+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SQSTM1 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 3\tMONDO:0014640",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-12-09T08:41:48.260203+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SQSTM1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-12-09T08:40:08.875342+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SQSTM1 as Amber List (moderate evidence)",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-12-09T08:40:08.868651+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ALS Spectrum Disorders GCEP classify the gene-disease association as Moderate, due to the lack of segregation evidence to support the GDA - https://search.clinicalgenome.org/CCID:006272",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-12-09T08:40:08.812660+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:04:00.739278+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.85",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCT6A as Amber List (moderate evidence)",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:04:00.726451+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.85",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct6a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:03:23.776635+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.84",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCT6A as Amber List (moderate evidence)",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:03:23.760656+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.84",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct6a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:03:17.047868+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.83",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCT6A as ready",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:03:17.026581+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.83",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct6a has been classified as Red List (Low Evidence).",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:03:10.200167+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCT6A as Green List (high evidence)",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:03:10.174620+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct6a has been classified as Green List (High Evidence).",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:03:10.071262+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCT6A as ready",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:03:10.050003+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct6a has been classified as Red List (Low Evidence).",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:02:57.375627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2194",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCT6A as ready",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:02:57.359815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2194",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct6a has been classified as Green List (High Evidence).",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:02:44.626239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2194",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCT6A as Green List (high evidence)",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:02:44.611884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2194",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct6a has been classified as Green List (High Evidence).",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:02:14.678063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCT6A was added\ngene: CCT6A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCT6A were set to 39480921\nPhenotypes for gene: CCT6A were set to neurodevelopmental disorder MONDO:0700092, CCT6A-related\nPenetrance for gene: CCT6A were set to Complete\nReview for gene: CCT6A was set to GREEN\ngene: CCT6A was marked as current diagnostic\nAdded comment: previously known as CCT6\r\n\r\n5x individuals including 4x de novo\r\n3x PTCS + 1x +5C>G + 1x missense\r\n\r\n4/5 DD/ID\r\n2/5 visual impairment\r\n2/5 seizures \nSources: Literature",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:02:05.950541+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.83",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCT6A was added\ngene: CCT6A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCT6A were set to 39480921\nPhenotypes for gene: CCT6A were set to neurodevelopmental disorder MONDO:0700092, CCT6A-related\nPenetrance for gene: CCT6A were set to Complete\nReview for gene: CCT6A was set to AMBER\ngene: CCT6A was marked as current diagnostic\nAdded comment: previously known as CCT6\r\n\r\n5x individuals including 4x de novo\r\n3x PTCS + 1x +5C>G + 1x missense\r\n\r\n4/5 DD/ID\r\n2/5 visual impairment\r\n2/5 seizures \nSources: Literature",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T21:02:04.263354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2193",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCT6A was added\ngene: CCT6A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCT6A were set to 39480921\nPhenotypes for gene: CCT6A were set to neurodevelopmental disorder MONDO:0700092, CCT6A-related\nPenetrance for gene: CCT6A were set to Complete\nReview for gene: CCT6A was set to GREEN\ngene: CCT6A was marked as current diagnostic\nAdded comment: previously known as CCT6\r\n\r\n5x individuals including 4x de novo\r\n3x PTCS + 1x +5C>G + 1x missense\r\n\r\n4/5 DD/ID\r\n2/5 visual impairment\r\n2/5 seizures \nSources: Literature",
"entity_name": "CCT6A",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:57:21.753170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TCP1 as ready",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:57:21.742234+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:57:19.729260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TCP1 as Green List (high evidence)",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:57:19.714933+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:56:54.250607+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TCP1 as Green List (high evidence)",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:56:54.224600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:56:27.187654+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.194",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TCP1 as ready",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:56:27.174825+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.194",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:56:21.760238+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.194",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TCP1 as Green List (high evidence)",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:56:21.751178+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.194",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:55:42.600219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2192",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TCP1 as ready",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:55:42.575846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2192",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:55:42.521127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2192",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TCP1 as ready",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:55:42.500060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2192",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:55:38.990711+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TCP1 as ready",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:55:38.974628+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:54:52.035500+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TCP1 as Green List (high evidence)",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:54:52.025608+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:54:42.421670+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.193",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TCP1 was added\ngene: TCP1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCP1 were set to 39480921\nPhenotypes for gene: TCP1 were set to neurodevelopmental disorder MONDO:0700092, TCP1-related\nPenetrance for gene: TCP1 were set to Complete\nReview for gene: TCP1 was set to GREEN\ngene: TCP1 was marked as current diagnostic\nAdded comment: previously known as CCT1\r\n\r\n8x individuals including 5x de novo\r\n6x PTCs + 2x missense\r\n\r\n6/8 DD/ID\r\n2/8 visual impairment\r\n6/8 seizures\r\n6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities \nSources: Literature",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:54:18.173323+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TCP1 was added\ngene: TCP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCP1 were set to 39480921\nPhenotypes for gene: TCP1 were set to neurodevelopmental disorder MONDO:0700092, TCP1-related\nPenetrance for gene: TCP1 were set to Complete\nReview for gene: TCP1 was set to GREEN\ngene: TCP1 was marked as current diagnostic\nAdded comment: previously known as CCT1\r\n\r\n8x individuals including 5x de novo\r\n6x PTCs + 2x missense\r\n\r\n6/8 DD/ID\r\n2/8 visual impairment\r\n6/8 seizures\r\n6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities \nSources: Literature",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:53:49.185613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2192",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TCP1 as Green List (high evidence)",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:53:49.159515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2192",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tcp1 has been classified as Green List (High Evidence).",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:52:51.270405+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.81",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TCP1 was added\ngene: TCP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCP1 were set to 39480921\nPhenotypes for gene: TCP1 were set to neurodevelopmental disorder MONDO:0700092, TCP1-related\nPenetrance for gene: TCP1 were set to Complete\nReview for gene: TCP1 was set to GREEN\ngene: TCP1 was marked as current diagnostic\nAdded comment: previously known as CCT1\r\n\r\n8x individuals including 5x de novo\r\n6x PTCs + 2x missense\r\n\r\n6/8 DD/ID\r\n2/8 visual impairment\r\n6/8 seizures\r\n6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities \nSources: Literature",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:52:07.747576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2191",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TCP1 was added\ngene: TCP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCP1 were set to 39480921\nPhenotypes for gene: TCP1 were set to neurodevelopmental disorder MONDO:0700092, TCP1-related\nPenetrance for gene: TCP1 were set to Complete\nReview for gene: TCP1 was set to GREEN\ngene: TCP1 was marked as current diagnostic\nAdded comment: previously known as CCT1\r\n\r\n8x individuals including 5x de novo\r\n6x PTCs + 2x missense\r\n\r\n6/8 DD/ID\r\n2/8 visual impairment\r\n6/8 seizures\r\n6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities \nSources: Literature",
"entity_name": "TCP1",
"entity_type": "gene"
}
]
}