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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=142",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=140",
"results": [
{
"created": "2025-10-29T13:52:02.989828+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.8",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MSH6 as ready",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:52:02.979018+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.8",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Green List (High Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:59.254499+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.8",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MSH6 as Green List (high evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:59.244232+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.8",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Green List (High Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:43.186253+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.7",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MSH2 as ready",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:43.178833+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.7",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: msh2 has been classified as Green List (High Evidence).",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:40.761159+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.7",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MSH2 as Green List (high evidence)",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:40.750845+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.7",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: msh2 has been classified as Green List (High Evidence).",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:29.221904+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.6",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MLH1 as ready",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:29.211911+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.6",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Green List (High Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:25.702394+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.6",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MLH1 as Green List (high evidence)",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:25.691349+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.6",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Green List (High Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:12.740374+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.5",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Kidney Cancer. Sources: Expert List,Expert Review\nMode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MLH1 were set to PMID: 28754778\nPhenotypes for gene: MLH1 were set to Lynch syndrome - MONDO:0005835; Mismatch repair cancer syndrome 1 MONDO:0010159\nReview for gene: MLH1 was set to GREEN\nAdded comment: Elevated lifetime risk of urothelial carcinoma (mainly ureteric and renal pelvis cancers but can include bladder cancer) - PMID: 28754778; eviQ. \nSources: Expert List, Expert Review",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:10.100120+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.4",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Kidney Cancer. Sources: Expert Review,Expert List\nMode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MSH2 were set to PMID: 28754778\nPhenotypes for gene: MSH2 were set to Lynch syndrome - MONDO:0005835; Mismatch repair cancer syndrome 1 MONDO:0010159\nReview for gene: MSH2 was set to GREEN\nAdded comment: Elevated lifetime risk of urothelial carcinoma (mainly ureteric and renal pelvis cancers but can include bladder cancer) - PMID: 28754778; eviQ. \nSources: Expert Review, Expert List",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2025-10-29T13:51:02.201084+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.3",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Kidney Cancer. Sources: Expert List,Expert Review\nMode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MSH6 were set to PMID: 28754778\nPhenotypes for gene: MSH6 were set to Lynch syndrome - MONDO:0005835; Mismatch repair cancer syndrome 1 MONDO:0010159\nReview for gene: MSH6 was set to GREEN\nAdded comment: Elevated lifetime risk of urothelial carcinoma (mainly ureteric and renal pelvis cancers but can include bladder cancer) - PMID: 28754778; eviQ. \nSources: Expert List, Expert Review",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2025-10-29T12:39:42.372858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3486",
"user_name": "May Tun Hla Maw",
"item_type": "entity",
"text": "changed review comment from: Encodes Liprin-alpha2.\r\nPredominantly expressed in brain in the pre- and post-synaptic compartments.\r\nLiprin has three domains with N-terminal coiled coil domain (CCD), central (IDRs) and three tandem C-terminal sterile alpha motif (SAM) domains.\r\n\r\nGene-disease association: neurodevelopmental disorder.\r\nMode of pathogenicity is unclear; haploinsufficiency has not been proven as disease-causing mechanism.\r\n\r\nEvidence summary:\r\nPreviously reported heterozygous de novo variants in two unrelated individuals with a neurodevelopmental disorder. Large cohort studies identified seven additional individuals with rare de novo variants with intellectual disability or developmental delay. Reported variants are mostly missense, and the rest includes non-sense, in-frame deletion, splice site variants. Eight out of these variants are located in the known functional domains (CCD, IDR, SAM). All of these variants were absent in gnomAD. \r\n \r\nOther phenotypes in these individuals include IUGR, macrocephaly, dystonia, choreatic movement, nystagmus, ataxia, hyperactivity, coarsened gyration, immature opercularization and a coarse corpus callosum, and hypotonia. \r\n\r\nFunctional studies:\r\nHomozygous mice with PPFIA2-knockout developed a neurologic phenotype as well as ophthalmologic features. Heterozygous mice did not have apparent phenotype. \nSources: Literature; to: Encodes Liprin-alpha2.\r\nPredominantly expressed in brain in the pre- and post-synaptic compartments.\r\nLiprin has three domains with N-terminal coiled coil domain (CCD), central (IDRs) and three tandem C-terminal sterile alpha motif (SAM) domains.\r\n\r\nMode of pathogenicity is unclear; haploinsufficiency has not been proven as disease-causing mechanism.\r\n\r\nEvidence summary:\r\nPreviously reported heterozygous de novo variants in two unrelated individuals with a neurodevelopmental disorder. Large cohort studies identified seven additional individuals with rare de novo variants with intellectual disability or developmental delay. Reported variants are mostly missense, and the rest includes non-sense, in-frame deletion, splice site variants. Eight out of these variants are located in the known functional domains (CCD, IDR, SAM). All of these variants were absent in gnomAD. \r\n \r\nOther phenotypes in these individuals include IUGR, macrocephaly, dystonia, choreatic movement, nystagmus, ataxia, hyperactivity, coarsened gyration, immature opercularization and a coarse corpus callosum, and hypotonia. \r\n\r\nFunctional studies:\r\nHomozygous mice with PPFIA2-knockout developed a neurologic phenotype as well as ophthalmologic features. Heterozygous mice did not have apparent phenotype. \r\nSources: Literature",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T12:39:02.609609+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.396",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene SSPO from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-29T12:39:02.311630+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.396",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SSPO was added\ngene: SSPO was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nnew gene name tags were added to gene: SSPO.\nMode of inheritance for gene: SSPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSPO were set to PMID: 41077560\nPhenotypes for gene: SSPO were set to Neurodevelopmental disorder, MONDO:0700092, SSPOP-related",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T12:38:32.811956+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.262",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene SSPO from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-29T12:38:32.575944+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.262",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SSPO was added\ngene: SSPO was added to Genetic Epilepsy. Sources: Literature\nnew gene name tags were added to gene: SSPO.\nMode of inheritance for gene: SSPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSPO were set to PMID: 41077560\nPhenotypes for gene: SSPO were set to Neurodevelopmental disorder, MONDO:0700092, SSPOP-related",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T12:37:28.558489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3486",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: The HGNC approved symbol for this gene is SSPOP which refers to SCO-spondin pseudogene. Recently, it has been demonstrated this gene produces a functional protein; subcommissural organ-spondin, which plays a role in neural development and function. Given the previous pseudogene status most annotation will include n. as opposed to c. numbers (including in gnomAD v4). \r\n\r\nPMID: 41077560 describes 4 individuals from 3 families with biallelic variants in SSPOP with a neurodevelopmental disorder. Phenotype is encompassed by epilepsy (onset <2 years old), developmental delay, autism and behavioural issues. \r\nVariant types include missense, frameshift and splice site. \r\n\r\nNo homozygous nonsense/frameshift variants in gnomad v4. (some hom splice site). \r\n\r\nSupportive functional studies including zebrafish knockout with epileptiform activity. Mouse knockout demonstrated reduced reissner’s fibre formation/smaller brain ventricles/spinal curvature anomalies. \r\n\r\nIt was noted by authors another publication PMID: 32028786 discussed 2 related individuals - a grandmother and grandchild with homozygous frameshift variants in SSPOP (exact variant not provided) who both were just documented to have cervical cleft, no mention of ID/epilepsy. \nSources: Literature; to: The HGNC approved symbol for this gene is SSPOP which refers to SCO-spondin pseudogene. Recently, it has been demonstrated this gene produces a functional protein; subcommissural organ-spondin, which is a large secreted glycoprotein that plays a role in neural development and function. Given the previous pseudogene status most annotation will include n. as opposed to c. numbers (including in gnomAD v4). \r\n\r\nPMID: 41077560 describes 4 individuals from 3 families with biallelic variants in SSPOP with a neurodevelopmental disorder. Phenotype is encompassed by epilepsy (onset <2 years old), developmental delay, autism and behavioural issues. \r\nVariant types include missense, frameshift and splice site. \r\n\r\nNo homozygous nonsense/frameshift variants in gnomad v4. (some hom splice site). \r\n\r\nSupportive functional studies including zebrafish knockout with epileptiform activity. Mouse knockout demonstrated reduced reissner’s fibre formation/smaller brain ventricles/spinal curvature anomalies. \r\n\r\nIt was noted by authors another publication PMID: 32028786 discussed 2 related individuals - a grandmother and grandchild with homozygous frameshift variants in SSPOP (exact variant not provided) who both were just documented to have cervical cleft, no mention of ID/epilepsy. \r\nSources: Literature",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T12:35:13.135992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3486",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SSPO was added\ngene: SSPO was added to Mendeliome. Sources: Literature\nnew gene name tags were added to gene: SSPO.\nMode of inheritance for gene: SSPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSPO were set to PMID: 41077560\nPhenotypes for gene: SSPO were set to Neurodevelopmental disorder, MONDO:0700092, SSPOP-related\nReview for gene: SSPO was set to GREEN\nAdded comment: The HGNC approved symbol for this gene is SSPOP which refers to SCO-spondin pseudogene. Recently, it has been demonstrated this gene produces a functional protein; subcommissural organ-spondin, which plays a role in neural development and function. Given the previous pseudogene status most annotation will include n. as opposed to c. numbers (including in gnomAD v4). \r\n\r\nPMID: 41077560 describes 4 individuals from 3 families with biallelic variants in SSPOP with a neurodevelopmental disorder. Phenotype is encompassed by epilepsy (onset <2 years old), developmental delay, autism and behavioural issues. \r\nVariant types include missense, frameshift and splice site. \r\n\r\nNo homozygous nonsense/frameshift variants in gnomad v4. (some hom splice site). \r\n\r\nSupportive functional studies including zebrafish knockout with epileptiform activity. Mouse knockout demonstrated reduced reissner’s fibre formation/smaller brain ventricles/spinal curvature anomalies. \r\n\r\nIt was noted by authors another publication PMID: 32028786 discussed 2 related individuals - a grandmother and grandchild with homozygous frameshift variants in SSPOP (exact variant not provided) who both were just documented to have cervical cleft, no mention of ID/epilepsy. \nSources: Literature",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T11:42:53.284090+11:00",
"panel_name": "Mirror movements",
"panel_id": 3696,
"panel_version": "1.1",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene RBM15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-29T11:42:53.257008+11:00",
"panel_name": "Mirror movements",
"panel_id": 3696,
"panel_version": "1.1",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: RBM15 was added\ngene: RBM15 was added to Mirror movements. Sources: Literature\nMode of inheritance for gene: RBM15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBM15 were set to 41058181\nPhenotypes for gene: RBM15 were set to Congenital mirror movements, RBM15-related, MONDO:0016558",
"entity_name": "RBM15",
"entity_type": "gene"
},
{
"created": "2025-10-29T11:41:22.720551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3485",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: RBM15 was added\ngene: RBM15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RBM15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBM15 were set to 41058181\nPhenotypes for gene: RBM15 were set to Congenital mirror movements, RBM15-related, MONDO:0016558\nReview for gene: RBM15 was set to RED\nAdded comment: One 27-year-old proband reported with mild mirror movements affecting only hands.\r\nDe novo heterozygous was identified in the affected individual and absent from asymptomatic parents - p.Ser175Lysfs∗8 - absent in gnomADv4.1\r\nRBM15 is constraint for LOF according to gnomAD v4.1 [pLI = 1;o/e = 0.11 (0.06 - 0.21)] however, LoF isn't an established mechanism of disease. \nSources: Literature",
"entity_name": "RBM15",
"entity_type": "gene"
},
{
"created": "2025-10-29T11:23:19.420360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3484",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Additional reported individuals supporting gene-disease association.; to: Additional reported individuals in four unrelated families supporting gene-disease association.",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T11:23:06.549493+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.58",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: None; Publications: 41078601, 39362668, 36459505, 32555313; Phenotypes: ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T11:22:05.586471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3484",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: None; Publications: 41078601, 39362668, 36459505, 32555313; Phenotypes: ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T11:01:13.316610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3484",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 41073431; Phenotypes: Waardenburg syndrome type 2D MONDO:0012144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2025-10-29T07:12:16.538408+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIA2 as ready",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T07:12:16.530874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia2 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T07:11:56.010727+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.395",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PPFIA2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-29T07:11:55.768290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPFIA2 was added\ngene: PPFIA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PPFIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPFIA2 were set to 41044885\nPhenotypes for gene: PPFIA2 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIA2 related",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T07:07:48.929589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIA2 as ready",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T07:07:48.922848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia2 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:57:29.980591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PPFIA2 was changed from Other to None",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:56:55.321033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIA2 as Green List (high evidence)",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:56:55.310656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia2 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:55:17.498790+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PURA as ready",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:55:17.488734+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pura has been classified as Green List (High Evidence).",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:55:12.908357+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from Congenital myasthenia; congenital hypoventilation to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:54:55.567490+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PURA as Green List (high evidence)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:54:55.560373+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pura has been classified as Green List (High Evidence).",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2025-10-29T06:54:38.393725+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:05:14.954089+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIPR1 as ready",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:05:14.932171+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eipr1 has been classified as Green List (High Evidence).",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:05:03.453762+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIPR1 as ready",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:05:03.441867+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eipr1 has been classified as Green List (High Evidence).",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:04:45.419145+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene EIPR1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T20:04:45.174267+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIPR1 was added\ngene: EIPR1 was added to Microcephaly. Sources: Expert Review Green,Literature\nMode of inheritance for gene: EIPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIPR1 were set to 41058046\nPhenotypes for gene: EIPR1 were set to Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related\nPenetrance for gene: EIPR1 were set to unknown",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:04:05.248705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.394",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene EIPR1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T20:04:04.938601+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIPR1 was added\ngene: EIPR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: EIPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIPR1 were set to 41058046\nPhenotypes for gene: EIPR1 were set to Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related\nPenetrance for gene: EIPR1 were set to unknown",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:03:02.258405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIPR1 as ready",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:03:02.249589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eipr1 has been classified as Green List (High Evidence).",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:02:30.521248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIPR1 as Green List (high evidence)",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T20:02:30.513394+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eipr1 has been classified as Green List (High Evidence).",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T19:59:57.436383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP19 as ready",
"entity_name": "ARHGAP19",
"entity_type": "gene"
},
{
"created": "2025-10-28T19:59:57.428984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap19 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP19",
"entity_type": "gene"
},
{
"created": "2025-10-28T19:59:27.086156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGAP19 as Green List (high evidence)",
"entity_name": "ARHGAP19",
"entity_type": "gene"
},
{
"created": "2025-10-28T19:59:27.075548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap19 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP19",
"entity_type": "gene"
},
{
"created": "2025-10-28T19:22:44.682830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3480",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AGBL3 as ready",
"entity_name": "AGBL3",
"entity_type": "gene"
},
{
"created": "2025-10-28T19:22:44.673735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3480",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: agbl3 has been classified as Red List (Low Evidence).",
"entity_name": "AGBL3",
"entity_type": "gene"
},
{
"created": "2025-10-28T19:22:17.000548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3480",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AGBL3 was added\ngene: AGBL3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AGBL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGBL3 were set to 41042736\nPhenotypes for gene: AGBL3 were set to Hypocomplementemic urticarial vasculitis MONDO:0018227\nReview for gene: AGBL3 was set to RED\nAdded comment: PMID:41042736 reports one patient from a single consanguineous family with biallelic loss‑of‑function AGBL3 variant presenting with hypocomplementemic urticarial vasculitis syndrome, childhood‑onset fever, urticarial rash, arthralgia, and low complement levels. \nSources: Literature",
"entity_name": "AGBL3",
"entity_type": "gene"
},
{
"created": "2025-10-28T18:45:02.442997+11:00",
"panel_name": "Immunological disorders_SuperPanel",
"panel_id": 239,
"panel_version": "15.134",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Autoinflammatory Disorders; Combined Immunodeficiency; Bone Marrow Failure; Phagocyte Defects; Disorders of immune dysregulation; Severe Combined Immunodeficiency; Defects of intrinsic and innate immunity; Hereditary angioedema; Autoimmune Lymphoproliferative Syndrome; Predominantly Antibody Deficiency; Susceptibility to Viral Infections; Complement Deficiencies; Inflammatory bowel disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T17:00:44.136449+11:00",
"panel_name": "Severe Combined Immunodeficiency",
"panel_id": 235,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Severe Combined Immunodeficiency (absent T present B cells) to Severe Combined Immunodeficiency\nPanel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T16:22:07.069444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3479",
"user_name": "Thomas Cloney",
"item_type": "entity",
"text": "gene: EIPR1 was added\ngene: EIPR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIPR1 were set to 41058046\nPhenotypes for gene: EIPR1 were set to Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related\nPenetrance for gene: EIPR1 were set to unknown\nReview for gene: EIPR1 was set to GREEN\nAdded comment: Report of 8 individuals from 6 unrelated consanguinous families with homozygous EIPR1 variants (5 different variants). \r\nPhenotype: All had global developmental delay (range of severity), with significant motor delay (5/8 never attained walking). Neurological manifestations: 2/8 Hypotonia, 4/8 had spasticity. 5/8 had microcepahly. MRI Brain abnormalities included: delayed myelination, hypoplasia of the corpus callosum, mild cerebellar atrophy, dysmorphic lateral ventricles. (Limited phenotypic information in pre-print - all in supplementary data)\r\nFunctional data: In vitro functional work show reduced protrien levels and interaction with EARP and GARP; and in vivo zebrafish models with knowckout of EIPR1 result in neurodevelopmental and locomotor defects \nSources: Literature",
"entity_name": "EIPR1",
"entity_type": "gene"
},
{
"created": "2025-10-28T15:49:31.966170+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.16",
"user_name": "maggie yau",
"item_type": "entity",
"text": "gene: PURA was added\ngene: PURA was added to Congenital Myasthenia. Sources: Literature\nMode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PURA were set to 36768582\nPhenotypes for gene: PURA were set to Congenital myasthenia; congenital hypoventilation\nReview for gene: PURA was set to GREEN\nAdded comment: PMID:36768582 Three cases with clinical myasthenic features confirmed with electrophysiological studies showing decremental response on repetitive nerve stimulation (RNS) \nSources: Literature",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2025-10-28T13:28:23.642473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3479",
"user_name": "May Tun Hla Maw",
"item_type": "entity",
"text": "gene: PPFIA2 was added\ngene: PPFIA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPFIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPFIA2 were set to 41044885\nPhenotypes for gene: PPFIA2 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIA2 related\nMode of pathogenicity for gene: PPFIA2 was set to Other\nReview for gene: PPFIA2 was set to GREEN\nAdded comment: Encodes Liprin-alpha2.\r\nPredominantly expressed in brain in the pre- and post-synaptic compartments.\r\nLiprin has three domains with N-terminal coiled coil domain (CCD), central (IDRs) and three tandem C-terminal sterile alpha motif (SAM) domains.\r\n\r\nGene-disease association: neurodevelopmental disorder.\r\nMode of pathogenicity is unclear; haploinsufficiency has not been proven as disease-causing mechanism.\r\n\r\nEvidence summary:\r\nPreviously reported heterozygous de novo variants in two unrelated individuals with a neurodevelopmental disorder. Large cohort studies identified seven additional individuals with rare de novo variants with intellectual disability or developmental delay. Reported variants are mostly missense, and the rest includes non-sense, in-frame deletion, splice site variants. Eight out of these variants are located in the known functional domains (CCD, IDR, SAM). All of these variants were absent in gnomAD. \r\n \r\nOther phenotypes in these individuals include IUGR, macrocephaly, dystonia, choreatic movement, nystagmus, ataxia, hyperactivity, coarsened gyration, immature opercularization and a coarse corpus callosum, and hypotonia. \r\n\r\nFunctional studies:\r\nHomozygous mice with PPFIA2-knockout developed a neurologic phenotype as well as ophthalmologic features. Heterozygous mice did not have apparent phenotype. \nSources: Literature",
"entity_name": "PPFIA2",
"entity_type": "gene"
},
{
"created": "2025-10-28T09:49:22.212014+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PSMB10 from panel Severe Combined Immunodeficiency (absent T absent B cells)",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T09:49:22.067863+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSMB10 was added\ngene: PSMB10 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Red,Literature\nMode of inheritance for gene: PSMB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSMB10 were set to 38503300\nPhenotypes for gene: PSMB10 were set to Severe combined immunodeficiency, MONDO:0015974, PSMB10-related",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2025-10-28T09:43:36.020877+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LCP2 from panel Severe Combined Immunodeficiency (absent T absent B cells)",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T09:43:35.859458+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LCP2 was added\ngene: LCP2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Amber,Literature\nMode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCP2 were set to 33231617\nPhenotypes for gene: LCP2 were set to Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency",
"entity_name": "LCP2",
"entity_type": "gene"
},
{
"created": "2025-10-28T09:41:51.211570+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RAG2 from panel Severe Combined Immunodeficiency (absent T absent B cells)",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T09:41:50.967775+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAG2 was added\ngene: RAG2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\nMode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAG2 were set to 26996199\nPhenotypes for gene: RAG2 were set to Recombinase activating gene 2 deficiency MONDO:0000573",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2025-10-28T09:30:15.238216+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RAG1 from panel Severe Combined Immunodeficiency (absent T absent B cells)",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T09:30:15.014480+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAG1 was added\ngene: RAG1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\nMode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAG1 were set to 26689875; 26186701\nPhenotypes for gene: RAG1 were set to Recombinase activating gene 1 deficiency MONDO:0000572",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2025-10-28T09:12:42.365071+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.22",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RAC2 from panel Severe Combined Immunodeficiency (absent T absent B cells)",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T09:12:42.209505+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAC2 was added\ngene: RAC2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAC2 were set to 32198141; 31919089; 31382036; 31071452; 30723080; 30654050\nPhenotypes for gene: RAC2 were set to SCID; recurrent bacterial and viral infections; lymphoproliferation; neutropaenia; reticular dysgenesis; deafness\nMode of pathogenicity for gene: RAC2 was set to Other",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2025-10-28T08:03:01.474093+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRSK1 as ready",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T08:03:01.463747+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brsk1 has been classified as Green List (High Evidence).",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T08:02:48.287543+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRSK1 as ready",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T08:02:48.277485+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brsk1 has been classified as Green List (High Evidence).",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T08:01:49.585444+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.393",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene BRSK1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T08:01:49.313012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRSK1 was added\ngene: BRSK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: BRSK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRSK1 were set to 41035394\nPhenotypes for gene: BRSK1 were set to Neurodevelopmental disorder, MONDO:0700092, BRSK1-related",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T08:01:10.533012+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene BRSK1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-28T08:01:10.311267+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRSK1 was added\ngene: BRSK1 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: BRSK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRSK1 were set to 41035394\nPhenotypes for gene: BRSK1 were set to Neurodevelopmental disorder, MONDO:0700092, BRSK1-related",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:59:56.705426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRSK1 were changed from Epilepsy, MONDO:0005027, BRSK1-related to Neurodevelopmental disorder, MONDO:0700092, BRSK1-related",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:59:15.984900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRSK1 as ready",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:59:15.974673+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brsk1 has been classified as Green List (High Evidence).",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:59:04.043019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRSK1 as Green List (high evidence)",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:59:04.035589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brsk1 has been classified as Green List (High Evidence).",
"entity_name": "BRSK1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:57:23.496841+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:56:38.675996+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:55:53.256525+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIA1 were set to 35675825; 38890806; 37921875",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:54:58.467534+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIA1 were set to 35675825",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:54:15.102320+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:53:30.783618+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:52:47.358341+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIA1 as Green List (high evidence)",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:52:47.337287+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria1 has been classified as Green List (High Evidence).",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2025-10-28T07:52:03.852571+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIA1 as Green List (high evidence)",
"entity_name": "GRIA1",
"entity_type": "gene"
}
]
}