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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=384",
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"results": [
{
"created": "2024-09-26T08:21:49.327008+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:21:43.466413+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PTEN as Green List (high evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:21:43.436662+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:21:38.218839+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMAD4 as Green List (high evidence)",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:21:38.199662+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:21:25.057526+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: SMAD4: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MONDO:0008278, Polyposis, juvenile intestinal, MIM#174900, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:21:17.048663+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: PTEN: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, PTEN hamartoma tumor syndrome, MONDO:0017623, PTEN hamartoma tumour syndromes, MIM#158350",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:21:11.017967+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: POLE: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287, POLE-associated polyposis, MIM#615083",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:21:04.070750+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: POLD1: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351, POLD1-associated polyposis, MIM#612591",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:20:54.921603+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: EPCAM: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Lynch syndrome 8, MONDO:0013196, Lynch syndrome 8, MIM#613244",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:20:48.725408+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: BMPR1A: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Polyposis syndrome, hereditary mixed, 2, MONDO:0012405, Polyposis, juvenile intestinal, MIM#174900",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:20:39.552856+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: AXIN2: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426, Oligodontia-cancer predisposition syndrome, MONDO:0012075, Oligodontia-colorectal cancer syndrome, MIM#608615",
"entity_name": "AXIN2",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:20:30.123944+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: APC: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, APC-related attenuated familial adenomatous polyposis, MONDO:0016613, Classic familial adenomatous polyposis, MONDO:0021055, Familial adenomatous polyposis 1, MONDO:0021056, Adenomatous polyposis coli, MIM#175100",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:20:16.315775+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: STK11: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Peutz-Jeghers syndrome, MONDO:0008280, Peutz-Jeghers syndrome, MIM#175200",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:20:00.879352+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP53 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623\nReview for gene: TP53 was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.\r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522). \nSources: Expert list, Expert Review",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:17:26.984380+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: STK11 was added\ngene: STK11 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STK11 were set to Peutz-Jeghers syndrome, MONDO:0008280; Peutz-Jeghers syndrome, MIM#175200\nReview for gene: STK11 was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.\r\n\r\nSingle gene testing may be more appropriate if clinical features of JPS. \nSources: Expert list, Expert Review",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:16:33.522850+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SMAD4 was added\ngene: SMAD4 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MONDO:0008278; Polyposis, juvenile intestinal, MIM#174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050\nReview for gene: SMAD4 was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:16:20.299166+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350\nReview for gene: PTEN was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:16:09.414159+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: POLE was added\ngene: POLE was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: POLE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POLE were set to POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083\nReview for gene: POLE was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. GOF variants. \nSources: Expert list, Expert Review",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:15:56.413734+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: POLD1 was added\ngene: POLD1 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POLD1 were set to POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351; POLD1-associated polyposis, MIM#612591\nMode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: POLD1 was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. GOF variants. \nSources: Expert list, Expert Review",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:15:11.434862+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EPCAM was added\ngene: EPCAM was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPCAM were set to Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244\nReview for gene: EPCAM was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.\r\n\r\nDeletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene. \nSources: Expert list, Expert Review",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:14:52.764367+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BMPR1A was added\ngene: BMPR1A was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR1A were set to Polyposis syndrome, hereditary mixed, 2, MONDO:0012405; Polyposis, juvenile intestinal, MIM#174900\nReview for gene: BMPR1A was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:14:43.459896+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AXIN2 was added\ngene: AXIN2 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AXIN2 were set to AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426; Oligodontia-cancer predisposition syndrome, MONDO:0012075; Oligodontia-colorectal cancer syndrome, MIM#608615\nReview for gene: AXIN2 was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "AXIN2",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:14:01.056748+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: APC was added\ngene: APC was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review\nMode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APC were set to APC-related attenuated familial adenomatous polyposis, MONDO:0016613; Classic familial adenomatous polyposis, MONDO:0021055; Familial adenomatous polyposis 1, MONDO:0021056; Adenomatous polyposis coli, MIM#175100\nReview for gene: APC was set to GREEN\nAdded comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:09:18.911530+10:00",
"panel_name": "Sarcoma soft tissue",
"panel_id": 4358,
"panel_version": "0.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BUB1B as Green List (high evidence)",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:09:18.895326+10:00",
"panel_name": "Sarcoma soft tissue",
"panel_id": 4358,
"panel_version": "0.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: bub1b has been classified as Green List (High Evidence).",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T08:09:13.039977+10:00",
"panel_name": "Sarcoma soft tissue",
"panel_id": 4358,
"panel_version": "0.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BUB1B was added\ngene: BUB1B was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BUB1B were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mosaic variegated aneuploidy syndrome 1, MONDO:0009759; Mosaic variegated aneuploidy syndrome 1, MIM#257300\nReview for gene: BUB1B was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2024-09-25T22:20:33.675442+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666369 34134906 17699660 34356170 12389028; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207, Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410, Kenny-Caffey syndrome, type 1 MIM#244460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-09-25T22:00:36.028853+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608 8634702 9326645 8948562 9097960 11061515 11297612 14764819 16968793; Phenotypes: Lipoid adrenal hyperplasia MIM#201710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2024-09-25T21:57:17.194798+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699 31638258 29907875 27531570 25692795 25266620 11713295; Phenotypes: Microcephaly-capillary malformation syndrome MIM#614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-09-25T21:54:25.533751+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25087613 31625632 30412272 30157964 29614691 29474540 28624463 26578207 25087613 32925938 33794647 19118250 25087613; Phenotypes: Centronuclear myopathy 5 MIM615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2024-09-25T21:50:16.916603+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112 32502479; Phenotypes: Ciliary dyskinesia, primary, 28 MIM#615505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2024-09-25T21:43:24.917720+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253 19478460; Phenotypes: Parkinsonism-dystonia, infantile, 1 MIM#613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-25T21:38:14.070790+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907 14722913 14961451; Phenotypes: Albinism, oculocutaneous, type IV MIM#606574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2024-09-25T21:27:23.776286+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989 16550171 17935213 22116938; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2024-09-25T21:18:29.645790+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870 26384929 27600704 38113697; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2024-09-25T21:09:11.145007+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24034276 21255763 33751860 34407605 38326069 38264205; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2024-09-25T20:58:34.837982+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9118943 32875002 11258423; Phenotypes: MHC class II deficiency 4 MIM#620817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2024-09-25T20:54:18.073725+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451169 24259342 30450804 30189253 33340101; Phenotypes: TARP syndrome MIM#311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2024-09-25T20:49:37.355569+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891 28334956 33105479 29797509; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2024-09-25T20:35:21.035532+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545950 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome MIM#208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2024-09-25T20:32:06.336093+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31840929 14634649 20410308 19661183; Phenotypes: Renpenning syndrome MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-09-25T20:25:29.449491+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550 26908613 30961548 30937090; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-09-25T20:17:07.753076+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 34769443 33981986 33748042 32888189 24658933 15772097 31261385 31616300 31759955; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency MIM#610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-09-25T17:09:31.787506+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19401719, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA MIM#219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2024-09-25T16:49:31.701875+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: ; Mode of pathogenicity: None; Publications: 33361148, 12393545; Phenotypes: Hemolytic anemia due to hexokinase deficiency MIM#235700, Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) MONDO:0009340 and Neuropathy, hereditary motor and sensory, Russe type MIM#605285, Charcot-Marie-Tooth disease type 4G (CMT4G) MONDO:0011534; Mode of inheritance: None",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2024-09-25T16:46:55.748162+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22750302, 20301412; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-09-25T16:38:24.438246+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23911318; Phenotypes: Pontocerebellar hypoplasia type 9 (PCH9); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-09-25T16:25:43.838071+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11555793, 27604308; Phenotypes: Cerebral creatine deficiency syndrome 3 MIM#612718, AGAT deficiency MONDO:0012996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-09-25T16:21:29.846592+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25738457; Phenotypes: GABA-transaminase deficiency, MIM# 613163, mtDNA depletion syndrome (MDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2024-09-25T16:16:50.480478+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30532362, 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850, MONDO:0009749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-09-25T16:03:24.953082+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "edited their review of gene: AARS2: Added comment: At least 6 families presenting with a severe COXPD phenotype in infancy, primarily with cardiac, muscle and neurological features in addition to lactic acidosis. Further 6 reported with a progressive neurodegenerative disorder characterised by loss of motor and cognitive skills, usually with onset in young adulthood. Some had a history of delayed motor development or learning difficulties in early childhood. Neurologic decline was severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most individuals lost speech and become wheelchair-bound or bedridden. Brain MRI showed progressive white matter signal abnormalities in the deep white matter. Affected females developed premature ovarian failure. These likely represent a spectrum of severity of a single mitochondrial disorder.\r\nCreated: 29 Aug 2020, 4:55 a.m. | Last Modified: 29 Aug 2020, 4:55 a.m.\r\nPanel Version: 0.3999; Changed publications: 27839525",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:33:39.114892+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16343966, 30724374, 2063868, 1569184, 15303011; Phenotypes: Porphyria, acute hepatic, MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:24:02.870590+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16906538, 10602371, 10677299; Phenotypes: Smith-Lemli-Opitz syndrome (MIM#270400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:16:43.419275+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PNPLA6 as ready",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:16:43.402901+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:14:55.046604+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PNPLA6 as Amber List (moderate evidence)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:14:55.028066+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:14:50.914656+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28375157 21945273; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease MIM#263200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:10:44.834018+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA6 were set to 32623594; 36825042\nPhenotypes for gene: PNPLA6 were set to PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149\nReview for gene: PNPLA6 was set to AMBER\nAdded comment: Parkinsonism is a part of the phenotype in at least 2 families, both compound hets including the same missense variant (PNPLA6 c.4003C>T p.Pro1335Ser). \nSources: Literature",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-09-25T15:07:40.882641+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9199559 15627218 27625797; Phenotypes: Dent disease 2 MIM#300555, Lowe syndrome MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2024-09-25T14:53:00.078130+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9802883, 18252231, 31337596, 18252231; Phenotypes: Bile acid synthesis defect, congenital, 3, 613812 (3), Spastic paraplegia 5A, 270800 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2024-09-25T14:12:50.653528+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:57:17.861314+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:57:17.833444+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:57:10.990567+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome type 1 MONDO:0019569",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:56:34.397073+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6247",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ERCC8 were set to ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:55:47.497735+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6246",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:55:06.566667+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne syndrome type 1 MONDO:0019569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:47:59.778116+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC6L2 as ready",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:47:59.761823+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:46:33.799293+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6L2 were changed from to pancytopenia-developmental delay syndrome MONDO:0014317",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:45:48.557680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6244",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ERCC6L2 were set to ",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:44:54.843400+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:44:11.308536+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36790458; Phenotypes: pancytopenia-developmental delay syndrome MONDO:0014317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:19:46.117377+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:19:46.107788+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:18:27.175759+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from to Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:15:39.531011+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6241",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ERCC6 were set to ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:14:07.165271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:12:03.846018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6239",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:12:03.832375+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6239",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:10:58.456962+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6239",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from to xeroderma pigmentosum group B MONDO:0012531",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:07:04.611398+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ERCC3 were set to ",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:06:05.670815+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6237",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:05:02.473971+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6236",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from xeroderma pigmentosum group D MONDO:0010212 to xeroderma pigmentosum group D MONDO:0010212; trichothiodystrophy 1, photosensitive MONDO:0011125; cerebrooculofacioskeletal syndrome 2 MONDO:0012553",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:03:34.492024+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6235",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:03:34.467695+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6235",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:03:23.039876+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6235",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from to xeroderma pigmentosum group D MONDO:0010212",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:00:48.935051+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6234",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ERCC2 were set to ",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2024-09-24T21:00:09.473170+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6233",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:59:02.668271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EP300 as ready",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:59:02.655524+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:58:54.282302+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EP300 were changed from to Rubinstein-Taybi syndrome MONDO:0019188",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:58:09.788850+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6231",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EP300 were set to https://search.clinicalgenome.org/CCID:004751",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:57:31.861309+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6230",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EP300 were set to ",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:56:51.305545+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6229",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EP300 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:55:53.533827+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ELOVL4 as ready",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:55:53.508090+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elovl4 has been classified as Green List (High Evidence).",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:55:40.058532+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ELOVL4 were changed from to congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760",
"entity_name": "ELOVL4",
"entity_type": "gene"
}
]
}