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"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=463",
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"results": [
{
"created": "2024-04-30T15:47:24.253969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1750",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: IL27RA as Amber List (moderate evidence)",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:47:24.240521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1750",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: il27ra has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:47:00.521202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1749",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: IL27RA was added\ngene: IL27RA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL27RA were set to 38509369\nPhenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related\nReview for gene: IL27RA was set to AMBER\ngene: IL27RA was marked as current diagnostic\nAdded comment: 3 children from 2 families with severe acute EBV infection.\r\n\r\nfam1: homozygous for p.(Gln96*) (NMD-pred)\r\nfam2: chet for p.(Arg446Gly) and c.1142-2A>C\r\n\r\nthe splice variant in fam2 was found to to result in an in-frame deletion p.(Gln381_Ala395del)\r\nthe missense in fam2 is hypothesised to be a hypomorphic allele:\r\n- out of 15 Homs in the Finnish database, 2 had hospital diagnoses of EBV IM\r\n- expression of this variant on its own results in a weak but detectable IL-27RA expression associated with significant increase in STAT1/3 phosphorus in response to IL-27 stimulation\r\n\r\nborderline amber/green due to functional studies performed \nSources: Literature",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:46:19.539204+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.117",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: IL27RA as Amber List (moderate evidence)",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:46:19.526281+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.117",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: il27ra has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:45:24.303210+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.116",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: IL27RA was added\ngene: IL27RA was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL27RA were set to 38509369\nPhenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related\nReview for gene: IL27RA was set to AMBER\ngene: IL27RA was marked as current diagnostic\nAdded comment: 3 children from 2 families with severe acute EBV infection.\r\n\r\nfam1: homozygous for p.(Gln96*) (NMD-pred)\r\nfam2: chet for p.(Arg446Gly) and c.1142-2A>C\r\n\r\nthe splice variant in fam2 was found to to result in an in-frame deletion p.(Gln381_Ala395del)\r\nthe missense in fam2 is hypothesised to be a hypomorphic allele:\r\n- out of 15 Homs in the Finnish database, 2 had hospital diagnoses of EBV IM\r\n- expression of this variant on its own results in a weak but detectable IL-27RA expression associated with significant increase in STAT1/3 phosphorus in response to IL-27 stimulation\r\n\r\nborderline amber/green due to functional studies performed \nSources: Literature",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:40:19.913052+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11162430, 11575290, 36257325; Phenotypes: maturity-onset diabetes of the young type 3 MONDO:0010894, diabetes mellitus MONDO:0005015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:25:20.839702+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "changed review comment from: PAX6 well established gene disease association for Aniridia\r\nNo evidence of association with monogenic diabetes\r\nPMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population\r\nPMID: 11756345: one family with cosegregation of T2D and arnidia with PAX6 SNP; to: PAX6 well established gene disease association for Aniridia\r\nNo evidence of association with monogenic diabetes\r\nPMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population\r\nPMID: 11756345: one family with cosegregation of T2D and Aniridia with PAX6 SNP",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:25:04.498904+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: 22153401, 11756345; Phenotypes: aniridia MONDO:0019172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:05:04.574635+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2613",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:04:30.491580+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2612",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:03:55.652896+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2612",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:03:23.514265+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2612",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Green List (high evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:03:23.481408+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2612",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T15:02:42.313290+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2611",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:59:43.276986+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5792",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:59:13.889316+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5791",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:58:52.578598+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5791",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:58:34.317123+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5791",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Green List (high evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:58:34.274076+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5791",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:51:55.756980+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5790",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Pre-print (https://sciprofiles.com/publication/view/62eb776390415f0166f73fae7cd172ed)\r\n\r\nReview of research and diagnostic databases and literature review found 50 individuals from 31 families with biallelic variants. \r\n\r\n13 PTCS (including splice) and 15 missense resulting in gain or loss of Cys residue. \r\n\r\nAR PTCs are associated with early onset leukoencephalopathy including cognitive decline, dev delay/ID and dysmorphism\r\n\r\nAR missense are associated with CADASIL-like phenotype; to: Pre-print (https://sciprofiles.com/publication/view/62eb776390415f0166f73fae7cd172ed)\r\n\r\nReview of research and diagnostic databases and literature review found 50 individuals from 31 families with biallelic variants. \r\n\r\n13 PTCS (including splice) and 15 missense resulting in gain or loss of Cys residue. \r\n\r\nAR PTCs are associated with early onset leukoencephalopathy including cognitive decline, dev delay/ID and dysmorphism; seizures, spasticity, hypotonia, ataxia\r\n\r\nAR missense are associated with CADASIL-like phenotype",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:51:06.998020+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5790",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:38:00.673112+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Lynn Tan",
"item_type": "entity",
"text": "edited their review of gene: COL4A2: Added comment: PMID: 35699195\r\nThe frequency of cognitive features in COL4A2 was 27% [11/41 individuals from 22 pedigrees]. These 11 patients all had developmental delay.\r\n\r\nPMID: 37272523\r\nOntario Neurodegenerative Disease Research Initiative (ONDRI) sample size 510: 8 patients with COL4A1/2 variants had Alzheimer's disease/mild cognitive impairment, 3 patients with COL4A1/2 variants had frontotemporal dementia\r\n\r\nPMID: 36300346\r\nUK Biobank cohort study (n = 454 756): 2 patients with COL4A1/2 variants had vascular dementia, 8 patients with COL4A1/2 variants had all-cause dementia \r\n\r\nDev delay vs early-onset dementia\r\nPMID: 37272523 and PMID: 36300346 -combined cohort with both COL4A1 and COL4A2\r\n\r\nSources: Literature; Changed rating: AMBER",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:23:23.613089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1748",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: SHH were set to 21976454; 12503095; 22791840; 19057928; 19533790; 38562108; 29321670, 32703609",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:22:59.732442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: SHH: Changed publications: 38562108, 29321670, 32703609",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:22:37.002691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1747",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: SHH were set to 21976454; 12503095; 22791840; 19057928; 19533790,38562108, 29321670, 32703609",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:22:25.314721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1746",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: SHH were changed from Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Single median maxillary central incisor, MIM#147250 to Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Single median maxillary central incisor, MIM#147250; Hypertelorism, ACC, intellectual disability",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:22:13.234277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1745",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: SHH were set to 21976454; 12503095; 22791840; 19057928; 19533790",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:21:47.321862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1744",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 38562108, 29321670, 32703609; Phenotypes: Hypertelorism, ACC, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:16:34.006807+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: PPP1R15B: Rating: RED; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: microcephaly MONDO:0001149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2024-04-30T14:13:14.310945+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Lynn Tan",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLG were set to 15477547; 14694057; 16638794\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4a\tMONDO:0008758\nReview for gene: POLG was set to AMBER\ngene: POLG was marked as current diagnostic\nAdded comment: PMID: 15477547\r\n5 patients with \"cognitive impairment\" in their 30s-50s, one male \"had mild cognitive decline in the fifth decade\".\r\n\r\nPMID: 14694057\r\nBiallelic POLG A467T variants: The 18-year-old patient is the elder son of nonconsanguineous parents, aged 45 and 41 years. The clinical features of myoclonus, seizure, axonal sensory ataxic neuropathy, and hepatotoxicity induced by valproate and mild cognitive decline and cardiomyopathy were indicative of a multisystem disorder and suggestive of mitochondrial disease.\r\n\r\nPMID: 16638794\r\nWe studied 26 patients belonging to 20 families with a disorder caused by biallelic mutations in the POLG gene. Mild cognitive abnormalities were clinically suspected in eight patients. In four a mild cognitive impairment was confirmed by neuropsychological examination.\r\n\r\nCognitive impairment -developmental delay/regression/ID in childhood vs dementia (and decline from a baseline) later in life \nSources: Literature",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-04-30T13:56:38.553272+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479539, 26239609; Phenotypes: congenital generalized lipodystrophy type 2 MONDO:0010020, diabetes mellitus MONDO:0005015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-04-30T11:54:56.066657+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 14994241, 22369132, 35114785; Phenotypes: thiamine-responsive megaloblastic anemia syndrome MONDO:0009575, neonatal diabetes mellitus MONDO:0016391, diabetes mellitus MONDO:0005015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2024-04-30T11:39:42.380981+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19336477, 22238637, 38163427, 24894595; Phenotypes: H syndrome MONDO:0011273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2024-04-30T11:34:04.473144+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Lynn Tan",
"item_type": "entity",
"text": "gene: COL4A2 was added\ngene: COL4A2 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A2 were set to 35699195; 37272523; 36300346\nPhenotypes for gene: COL4A2 were set to Familial porencephaly MONDO:0020496\nReview for gene: COL4A2 was set to GREEN\ngene: COL4A2 was marked as current diagnostic\nAdded comment: PMID: 35699195\r\nThe frequency of cognitive features in COL4A2 was 27% [11/41 individuals from 22 pedigrees]. Developmental delay was present in over 80% of individuals with COL4A1/2 with cognitive features.\r\n\r\nPMID: 37272523\r\nOntario Neurodegenerative Disease Research Initiative (ONDRI) sample size 510: 8 patients with COL4A1/2 variants had Alzheimer's disease/mild cognitive impairment, 3 patients with COL4A1/2 variants had frontotemporal dementia\r\n\r\nPMID: 36300346\r\nUK Biobank cohort study (n = 454 756): 2 patients with COL4A1/2 variants had vascular dementia, 8 patients with COL4A1/2 variants had all-cause dementia \nSources: Literature",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-04-30T11:26:39.489582+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34601591, 33341511, 2258529; Phenotypes: hemochromatosis type 4 MONDO:0011631, diabetes mellitus MONDO:0005015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2024-04-30T11:19:05.634138+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Lynn Tan",
"item_type": "entity",
"text": "gene: COL4A1 was added\ngene: COL4A1 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A1 were set to 35699195; 37272523; 36300346; 30413629\nPhenotypes for gene: COL4A1 were set to Brain small vessel disease 1 with or without ocular anomalies\tMONDO:0008289; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant\tMONDO:0032814\nReview for gene: COL4A1 was set to GREEN\ngene: COL4A1 was marked as current diagnostic\nAdded comment: PMID: 35699195\r\nSystematic review: frequency of cognitive features in COL4A1 was 33% [128/390 individuals from 233 pedigrees]. Developmental delay was present in over 80% of individuals with COL4A1/2 with cognitive features.\r\n\r\nPMID: 37272523\r\nOntario Neurodegenerative Disease Research Initiative (ONDRI) sample size 510: 8 patients with COL4A1/2 variants had Alzheimer's disease/mild cognitive impairment, 3 patients with COL4A1/2 variants had frontotemporal dementia\r\n\r\nPMID: 36300346\r\nUK Biobank cohort study (n = 454 756): 2 patients with COL4A1/2 variants had vascular dementia, 8 patients with COL4A1/2 variants had all-cause dementia\r\n\r\nPMID: 30413629\r\nChild with COL4A1 p. G601S variant: developmental delay, moderate cognitive impairment, autism, and normal neurologic examination. Focal-onset drug-resistant seizures started at 11 years of age.\r\n3-year-old girl with de novo COL4A1 p.G1239R: Surgical delivery was performed because prenatal hydrocephalus was suspected. The child developed microcephaly, severe cognitive impairment, and drug-resistant epileptic spasms. \nSources: Literature",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:59:41.469797+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33651552, 30296183, 35857714, 21847459; Phenotypes: diabetes mellitus MONDO:0005015, congenital generalized lipodystrophy type 1 MONDO:0012071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:29:32.286983+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIP5K1C were set to 17701898",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:29:18.411359+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Green List (high evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:29:18.399493+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:29:06.645488+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 38491417; Phenotypes: Lethal congenital contractural syndrome 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:28:22.401996+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Green List (high evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:28:22.391375+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:27:51.004758+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIP5K1C: Added comment: PMID 38491417: reported a novel variant (p.S318Ifs*28) and a different variant which has been reported in ClinVar (p.G230Qfs*114) has been identified in two foetuses with contractures and other joint abnormalities. The variants were confirmed to be in trans through parental testing.; Changed rating: GREEN; Changed publications: 17701898, 38491417",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:26:44.792389+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIP5K1C were set to 17701898",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:26:10.366736+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Green List (high evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:26:10.353578+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:25:45.182558+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "changed review comment from: Rare presenting feature for recessive Fanconi-Bickel syndrome. \r\nFrom 104 patients with neonatal diabetes, five (5%) were found to have homozygous SLC2A2 mutations (PMID: 22660720)\r\nThree further patient with neonatal diabetes with SLC2A2 variant detected (PMID: 22060631, PMID: 23456528; 29116606); to: Rare presenting feature for recessive Fanconi-Bickel syndrome. \r\nFrom 104 patients with neonatal diabetes, five (5%) were found to have homozygous SLC2A2 mutations (PMID: 22660720)\r\nThree further patients with neonatal diabetes with SLC2A2 variant detected (PMID: 22060631, PMID: 23456528; 29116606)",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:25:35.054478+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Green List (high evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:25:35.037059+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:25:23.468955+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22060631, 23456528, 29116606, 22660720; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:19:15.917049+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35C1 as ready",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:19:15.905121+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35c1 has been classified as Green List (High Evidence).",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:19:11.885281+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:18:38.825428+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35C1 were set to ",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:18:05.668030+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:16:33.152221+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P3H1 were set to 17277775; 18566967",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:15:48.874225+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: P3H1.",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:14:40.756987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRMT9 as ready",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:14:40.742320+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prmt9 has been classified as Red List (Low Evidence).",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:14:36.531717+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRMT9 were changed from Neurodevelopmental disorder, MONDO:0100500 to Neurodevelopmental disorder, MONDO:0100500, PRMT9-related",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:13:11.709083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRMT9 as ready",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:13:11.689416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prmt9 has been classified as Red List (Low Evidence).",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:13:05.335570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRMT9 were changed from Neurodevelopmental disorder, MONDO:0100500 to Neurodevelopmental disorder, MONDO:0100500, PRMT9-related",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:11:35.298284+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPT7L as ready",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:11:35.281220+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt7l has been classified as Red List (Low Evidence).",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:11:28.757950+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUPT7L were changed from lipodystrophy, MONDO:0006573 to lipodystrophy, MONDO:0006573, SUPT7L-related",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:10:44.660056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPT7L as ready",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:10:44.643001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt7l has been classified as Red List (Low Evidence).",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:10:36.598336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUPT7L were changed from Lipodystrophy, MONDO:0006573 to Lipodystrophy, MONDO:0006573, SUPT7L-related",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:07:59.329401+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PQLC2 as ready",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:07:59.318996+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqlc2 has been classified as Green List (High Evidence).",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:07:56.490025+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PQLC2 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, PQLC2-related",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:07:44.897482+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:07:33.769991+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: PQLC2.",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:07:15.552335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PQLC2 as ready",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:07:15.537726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqlc2 has been classified as Green List (High Evidence).",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:07:08.869440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PQLC2 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, PQLC2-related",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:06:53.067773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:06:22.570287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: PQLC2.",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:04:34.291659+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A12 as ready",
"entity_name": "SLC39A12",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:04:34.278826+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a12 has been classified as Red List (Low Evidence).",
"entity_name": "SLC39A12",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:04:31.126364+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A12 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC39A12-related",
"entity_name": "SLC39A12",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:04:07.969238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A12 as ready",
"entity_name": "SLC39A12",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:04:07.956981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a12 has been classified as Red List (Low Evidence).",
"entity_name": "SLC39A12",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:03:59.939510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A12 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC39A12-related",
"entity_name": "SLC39A12",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:03:16.834474+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Lynn Tan",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TREX1 were set to 29380913; 35699195; 36586737; 35307828\nPhenotypes for gene: TREX1 were set to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations\tMONDO:0008641\nReview for gene: TREX1 was set to GREEN\ngene: TREX1 was marked as current diagnostic\nAdded comment: PMID: 35699195\r\nSystematic review: frequency of cognitive features in TREX1 was 29% [36/123 individuals from 34 pedigrees]\r\n\r\nPMID: 29380913\r\nSymptoms for this disorder start in adulthood and frequently include rapid loss of vision, multifocal strokes and dementia. \r\n\r\nPMID: 36586737\r\n1. Female patient displayed the first symptoms at a very early-age, 57 years old, and originated from Serbia. She presented with mild cognitive impairment.\r\n2. 53-year old Dutch patient who displayed presenile dementia\r\n3. 39-year old Finnish patient presenting migrane without aura, severe and pervasive cognitive impairment\r\n\r\nPMID: 35307828\r\nFirst stroke at age 39, diagnosed with severe amyloid angiopathy, and he also started suffering from migraines without aura and was later diagnosed with cognitive impairment \nSources: Literature",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:02:28.542583+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CBS were set to ",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:01:51.047057+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBS as Green List (high evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:01:51.029370+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:01:21.963003+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CBS: Changed rating: GREEN",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:00:42.252949+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A7 as ready",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:00:42.241099+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:00:39.942206+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A7 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC4A7-related",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:00:16.588954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A7 as ready",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:00:16.573052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T10:00:08.205359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A7 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC4A7-related",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:58:28.614760+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC8 as ready",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:58:28.602438+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc8 has been classified as Green List (High Evidence).",
"entity_name": "ABCC8",
"entity_type": "gene"
}
]
}