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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=921",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=919",
"results": [
{
"created": "2022-03-23T13:13:55.297805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 - MIM#612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:12:03.787736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:12:00.937417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:04:07.597710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NFKBIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, susceptibility to} - MIM#180300; Mode of inheritance: None",
"entity_name": "NFKBIL1",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:00:54.619267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:00:20.057638+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:59:01.554244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:24:12.522262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:24:01.481398+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:23:10.347204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NEXN was added\ngene: NEXN was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NEXN were set to 33947203; 33949776; 35166435; 32058062\nPhenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122\nReview for gene: NEXN was set to GREEN\nAdded comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy.\r\n\r\nPMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.\r\n\r\n\r\nPMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis. \r\n\r\nPMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history. \nSources: Literature",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:22:55.416692+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.228",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NEXN was added\ngene: NEXN was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NEXN were set to 33947203; 33949776; 35166435\nPhenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122\nReview for gene: NEXN was set to GREEN\nAdded comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy. Fetal Hydrops reported in two of these families.\r\n\r\nPMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.\r\n\r\n\r\nPMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis. \r\n\r\nPMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history. \nSources: Literature",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:05:07.198200+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SUFU as ready",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:05:07.184576+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:04:56.033969+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:04:56.029721+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with paediatric-onset ataxia with oculomotor apraxia",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:04:56.002960+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:04:10.166505+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.329",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUFU were set to 33024317\nPhenotypes for gene: SUFU were set to congenital ocular motor apraxia (forme fruste of Joubert syndrome)\nReview for gene: SUFU was set to GREEN\ngene: SUFU was marked as current diagnostic\nAdded comment: Clinical features include congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI shows consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.\r\n\r\nSUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap. \nSources: Literature",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:36:42.043635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK2 as ready",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:36:42.033617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:36:32.334609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK2 were changed from to Retinitis pigmentosa 67, MIM#615565",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:36:06.553382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK2 were set to ",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:34:51.200491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:34:29.460956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK2 as Amber List (moderate evidence)",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:34:29.446953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:33:18.311886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.; to: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, or episodic regression with cavitating leukoencephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:32:42.905612+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFV2: Changed publications: 12754703, 26008862, 29554876, 33811136",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:30:50.724319+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV2 as ready",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:30:50.715080+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:30:47.961599+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:30:18.307395+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV2 were set to ",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:29:25.138143+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:28:47.608253+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV2 as ready",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:28:47.597846+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:28:44.687060+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:28:14.103701+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV2 were set to ",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:27:42.449084+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:27:10.276245+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFV2 as Amber List (moderate evidence)",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:27:10.266663+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:26:30.836960+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV2 as ready",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:26:30.822638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:26:26.734481+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFV2 as Amber List (moderate evidence)",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:26:26.724161+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:25:26.965467+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV2 were set to 12754703; 19167255; 26008862",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:23:22.116876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYCP3 as ready",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:23:22.104418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sycp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:23:09.978647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYCP3 were changed from to Spermatogenic failure 4, MIM# 270960; Pregnancy loss, recurrent, 4, MIM# 270960",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:22:48.886050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYCP3 were set to ",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:22:27.632160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:22:08.470296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYCP3 as Amber List (moderate evidence)",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:22:08.458491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sycp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:21:50.550620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 14643120, 19110213, 33170803; Phenotypes: Spermatogenic failure 4, MIM# 270960, Pregnancy loss, recurrent, 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:15:36.252777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE4 as ready",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:15:36.241154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne4 has been classified as Green List (High Evidence).",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:15:28.039904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE4 were changed from to Deafness, autosomal recessive 76, MIM# 615540",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:15:05.344418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNE4 were set to ",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:14:41.815971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:14:22.325085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23348741, 28958982; Phenotypes: Deafness, autosomal recessive 76, MIM# 615540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:12:54.303362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNGAP1 were changed from Mental retardation, autosomal dominant 5, MIM# 612621 to Intellectual disability, autosomal dominant 5 (MIM # 612621)",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:12:03.830740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNGAP1 as ready",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:12:03.814586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syngap1 has been classified as Green List (High Evidence).",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:11:55.608992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNGAP1 were changed from to Mental retardation, autosomal dominant 5, MIM# 612621",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:11:37.105214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNGAP1 were set to ",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:11:17.176918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:10:58.311654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Unsteady gait and ataxia mentioned in this cohort, but appears to be a rare feature. Presentation is typically with ID/seizures/hypotonia.; to: Well established gene-disease association.",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:10:39.281377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYNGAP1: Changed publications: 26989088, 23161826, 21237447, 19196676",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:09:44.241270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYNGAP1: Changed rating: GREEN",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:31:48.501637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNJ1 as ready",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:31:48.492014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: synj1 has been classified as Green List (High Evidence).",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:31:33.111618+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNJ1 as ready",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:31:33.099101+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: synj1 has been classified as Green List (High Evidence).",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:31:10.203774+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNJ1 were changed from to Developmental and epileptic encephalopathy 53, MIM# 617389",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:30:33.209536+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNJ1 were set to ",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:28:29.722673+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:27:57.431708+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:27:49.970744+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNJ1 were changed from to Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:26:53.178617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SZT2 as ready",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:26:53.167743+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: szt2 has been classified as Green List (High Evidence).",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:26:51.590567+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNJ1 were set to ",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:26:14.561456+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:25:36.870087+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091, 23804563, 23804577, 27496670, 33841314; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389, Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:25:22.835734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNJ1 were changed from to Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:25:03.372558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNJ1 were set to ",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:24:42.356963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:24:21.129552+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNJ1 as ready",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:24:21.119776+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: synj1 has been classified as Green List (High Evidence).",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:24:18.895082+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNJ1 were changed from to Parkinson disease 20, early-onset, MIM# 615530",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:23:43.757084+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNJ1 were set to ",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:23:07.400055+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:22:31.500920+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23804563, 23804577, 27496670, 33841314; Phenotypes: Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:21:47.666741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091, 23804563, 23804577, 27496670, 33841314; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389, Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:20:34.193590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11774",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADCY10 as ready",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:20:34.184451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11774",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adcy10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:17:13.767710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SZT2 were set to ",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:16:41.399818+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:16:07.135688+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:15:58.193614+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SZT2 as ready",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:15:58.183401+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: szt2 has been classified as Green List (High Evidence).",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:15:43.084823+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:15:03.204294+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SZT2 were changed from Developmental and epileptic encephalopathy 18, OMIM #615476 to Developmental and epileptic encephalopathy 18, OMIM #615476",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:15:03.171962+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SZT2 were set to 23932106; 30560016; 30359774; 28556953; 32402703",
"entity_name": "SZT2",
"entity_type": "gene"
}
]
}