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{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=950",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=948",
"results": [
{
"created": "2022-03-03T12:19:02.480591+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.110",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CPSF3 as Green List (high evidence)",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:19:02.470746+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.110",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been classified as Green List (High Evidence).",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:18:53.305015+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CPSF3 as ready",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:18:53.304404+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AL117258.1 were changed from Heterotaxy; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:18:53.285484+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been removed from the panel.",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:18:03.205100+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1460",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CPSF3 as Green List (high evidence)",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:18:03.158325+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1460",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been classified as Green List (High Evidence).",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:17:36.148005+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1461",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:17:04.117979+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AL117258.1 as Green List (high evidence)",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:17:04.106651+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: al117258.1 has been classified as Green List (High Evidence).",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:16:39.911983+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AL117258.1 were changed from Heterotaxy, MONDO:0018677; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:16:39.884793+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1461",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:16:18.631506+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AL117258.1 as ready",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:16:18.618907+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: al117258.1 has been classified as Green List (High Evidence).",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:16:08.254133+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1460",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:53.449419+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AL117258.1 were changed from Heterotaxy; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:52.117783+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLS1 as ready",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:52.106024+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:51.992816+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: HIST1H4E was added\ngene: HIST1H4E was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: HIST1H4E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4E were set to 35202563\nPhenotypes for gene: HIST1H4E were set to Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092\nReview for gene: HIST1H4E was set to GREEN\ngene: HIST1H4E was marked as current diagnostic\nAdded comment: HGNC recognised gene name: H4C5\r\n17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD). OFC at most recent exam (age range 11 months to 18 years) ranged from -0.15SD to < -4SD. 10/17 had OFC < -3SD.\r\nA zebrafish model has developmental defects. \nSources: Literature",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:47.886135+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRLS1 were changed from 35147173 to Mitochondrial disease MONDO:0044970 CRLS1-related",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:36.849514+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRLS1 were set to ",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:28.294292+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRLS1 as Amber List (moderate evidence)",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:28.281122+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:20.616939+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRLS1 as Green List (high evidence)",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:20.606914+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:11.354372+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLS1 as ready",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:11.343969+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:09.331760+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1460",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CPSF3 as Green List (high evidence)",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:09.300059+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1460",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been classified as Green List (High Evidence).",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:15:08.924453+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.123",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: CRLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35147173; Phenotypes: Mitochondrial disease MONDO:0044970 CRLS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:14:35.427166+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRLS1 as Green List (high evidence)",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:14:35.414961+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:14:24.592312+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1459",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CPSF3 as ready",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:14:24.583127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1459",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been removed from the panel.",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:13:35.649188+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AL117258.1 as Green List (high evidence)",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:13:35.636951+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: al117258.1 has been classified as Green List (High Evidence).",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:13:16.630462+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.123",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:13:14.098421+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLS1 as ready",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:13:14.086063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:12:57.366019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11113",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: RECQL as ready",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:12:57.355081+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11113",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: recql has been classified as Amber List (Moderate Evidence).",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:12:56.424621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11113",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RECQL as Amber List (moderate evidence)",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:12:56.413937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11113",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: recql has been classified as Amber List (Moderate Evidence).",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:12:42.031795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRLS1 as Green List (high evidence)",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:12:42.022631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:12:11.797223+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.120",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: CRLS1 was added\ngene: CRLS1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRLS1 were set to 35147173\nPhenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related\nReview for gene: CRLS1 was set to GREEN\nAdded comment: - Three families (4 individuals) with cardiolipin deficiency.\r\n- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.\r\n- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.\r\n- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis\r\n\r\n*2 individuals with auditory neuropathy and one with sensorineural hearing loss \nSources: Literature",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:11:50.565284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB7A as Green List (high evidence)",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:11:50.536864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7a has been classified as Green List (High Evidence).",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:11:49.829141+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB7A as Green List (high evidence)",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:11:49.812623+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7a has been classified as Green List (High Evidence).",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:11:38.811183+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB7A as ready",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:11:38.799044+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7a has been classified as Green List (High Evidence).",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:11:11.292497+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:10:45.139316+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: 35202563; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder, HIST1H4C-related MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:10:35.155036+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: HIST1H4E as Green List (high evidence)",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:10:35.133486+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: hist1h4e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:10:33.695994+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB7A as Green List (high evidence)",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:10:33.636198+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7a has been classified as Green List (High Evidence).",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:10:05.692142+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.123",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: CRLS1 was added\ngene: CRLS1 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRLS1 were set to 35147173\nReview for gene: CRLS1 was set to AMBER\nAdded comment: - Three families (4 individuals) with cardiolipin deficiency.\r\n- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.\r\n- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.\r\n- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis\r\n\r\n*Two individuals presented cardiac defects: one with LVNC, biventricular systolic dysfunction and evolved to HCM; the other one had biventricular dysfunction \nSources: Literature",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:09:53.229906+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4686",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: 35202563; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder, HIST1H4C-related MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:09:32.015457+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB7A as ready",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:09:32.003302+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7a has been classified as Green List (High Evidence).",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:09:19.299617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB7A as Green List (high evidence)",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:09:19.237190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7a has been classified as Green List (High Evidence).",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:08:56.952666+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: HIST1H4E as Green List (high evidence)",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:08:56.912951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4528",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: hist1h4e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:08:26.473025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4527",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: HIST1H4E as Green List (high evidence)",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:08:26.448994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4527",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: hist1h4e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:08:06.819941+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLS1 as ready",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:08:06.808018+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:07:52.475803+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4527",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: HIST1H4E as Green List (high evidence)",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:07:52.464509+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4527",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: hist1h4e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:07:34.506151+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRLS1 as Green List (high evidence)",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:07:34.494428+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:07:28.367627+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4526",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: HIST1H4E as ready",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:07:28.356905+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4526",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: hist1h4e has been removed from the panel.",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:06:55.747627+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1459",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: CPSF3 was added\ngene: CPSF3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPSF3 were set to 35121750\nPhenotypes for gene: CPSF3 were set to Intellectual disability syndrome\nReview for gene: CPSF3 was set to GREEN\ngene: CPSF3 was marked as current diagnostic\nAdded comment: Study of a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes\r\n\r\nSix homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone.\r\n\r\n- Four identified through Icelandic geneology (p.Gly468Glu), three carrier couples total of four children who had died prematurely. Tested archival samples for two of these children, and confirm a homozygous genotype.\r\n- Two of Mexican descent (p.Ile354Thr), first-degree cousins \nSources: Literature",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:06:51.484287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11112",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: HIST1H4E as ready",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:06:51.473593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11112",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: hist1h4e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:06:31.667970+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4D as ready",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:06:31.652704+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4d has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:06:25.796943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4D as Amber List (moderate evidence)",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:06:25.785383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4d has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:05:53.244256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11112",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: HIST1H4E as Green List (high evidence)",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:05:53.208490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11112",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: hist1h4e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:05:42.954606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4D as ready",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:05:42.943131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4d has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:05:23.086065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4D as Amber List (moderate evidence)",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:05:23.076228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4d has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:04:20.887828+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB11 as Green List (high evidence)",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:04:20.871691+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb11 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:04:17.417815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11110",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: RECQL was added\ngene: RECQL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RECQL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RECQL were set to PMID: 35025765\nPhenotypes for gene: RECQL were set to Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities\nReview for gene: RECQL was set to AMBER\nAdded comment: PMID: 35025765\r\n- Homozygous missense variants identified in two seemingly unrelated families with a genome instability disorder. Both families had the same missense variant. Phenotype was progeroid facial features, skin photosensitivity, xeroderma, and slender elongated thumbs. \nSources: Literature",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:03:47.004876+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4525",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:03:43.897045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB11 as Green List (high evidence)",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:03:43.885708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb11 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:03:35.987111+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: CPSF3 was added\ngene: CPSF3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPSF3 were set to 35121750\nPhenotypes for gene: CPSF3 were set to Intellectual disability syndrome\nReview for gene: CPSF3 was set to GREEN\ngene: CPSF3 was marked as current diagnostic\nAdded comment: Study of a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes\r\n\r\nSix homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone.\r\n\r\n- Four identified through Icelandic geneology (p.Gly468Glu), three carrier couples total of four children who had died prematurely. Tested archival samples for two of these children, and confirm a homozygous genotype.\r\n- Two of Mexican descent (p.Ile354Thr), first-degree cousins \nSources: Literature",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:03:16.455523+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB11 as Green List (high evidence)",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:03:16.428738+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb11 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:03:05.158176+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4524",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CPSF3 as ready",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:03:05.144763+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4524",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been classified as Green List (High Evidence).",
"entity_name": "CPSF3",
"entity_type": "gene"
}
]
}