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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=488",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=486",
"results": [
{
"created": "2024-02-21T16:57:54.465239+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:57:49.702595+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMBS were changed from to Encephalopathy, porphyria-related MIM#620704; Leukoencephalopathy, porphyria-related, MIM#620711",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:57:14.159984+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:56:44.637699+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, porphyria-related MIM#620704, Leukoencephalopathy, porphyria-related, MIM#620711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:56:15.720758+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMBS as ready",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:56:15.709532+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:56:11.506380+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMBS were set to 15534187",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:55:14.390012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMBS as Green List (high evidence)",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:55:14.375695+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:54:42.313907+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HMBS: Changed publications: 15534187, 34089223; Changed phenotypes: Encephalopathy, porphyria-related MIM#620704, Leukoencephalopathy, porphyria-related, MIM#620711",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:54:33.382091+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMBS were set to 15534187\nPhenotypes for gene: HMBS were set to Encephalopathy, porphyria-related\tMIM#620704; Leukoencephalopathy, porphyria-related, MIM#620711\nReview for gene: HMBS was set to GREEN\nAdded comment: Several families reported with encephalopathy/leukoencephalopathy and ballelic variants in this gene. \nSources: Expert Review",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:51:06.134071+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, MIM#176000; Acute intermittent porphyria-related leukoencephalopathy to Leukoencephalopathy, porphyria-related, MIM# 620711",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:50:45.202219+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HMBS: Changed phenotypes: Leukoencephalopathy, porphyria-related, MIM# 620711",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2024-02-21T12:48:29.355855+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5699",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "edited their review of gene: DDX3X: Changed publications: PMID: 32135084, 32852922",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-02-21T12:45:45.748340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5699",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "changed review comment from: Genotype-Phenotype Correlations\r\n\r\nFemales. Affected females with a subset of missense variants generally are more severely affected than those with truncating variants [Lennox et al 2020].\r\n\r\nPolymicrogyria has been associated with missense or in-frame deletions [Lennox et al 2020].\r\n\r\nMales. While all affected males have had missense DDX3X variants (see Table 6), their female relatives who are heterozygous for the same DDX3X variant do not manifest an atypical neurodevelopmental phenotype.; to: Genotype-Phenotype Correlations\r\n\r\nFemales. Affected females with a subset of missense variants generally are more severely affected than those with truncating variants PMID: 32135084\r\n\r\nPolymicrogyria has been associated with missense or in-frame deletions PMID: 32135084\r\n\r\nMales. While all affected males have had missense DDX3X variants , their female relatives who are heterozygous for the same DDX3X variant do not manifest an atypical neurodevelopmental phenotype.",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-02-21T12:44:40.653084+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5699",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "commented on gene: DDX3X",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-02-21T04:40:45.203568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1551",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37211057; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCP2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:37:35.554990+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101; dominant deafness to Deafness, autosomal recessive 30, MIM# 607101; Deafness, autosomal dominant 90, MIM# 620722",
"entity_name": "MYO3A",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:36:51.493069+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO3A: Changed phenotypes: Deafness, autosomal recessive 30, MIM# 607101, Deafness, autosomal dominant 90, MIM# 620722",
"entity_name": "MYO3A",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:36:19.276597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774; dominant deafness to Deafness, autosomal recessive 30, MIM# 607101; Deafness, autosomal dominant 90, MIM# 620722",
"entity_name": "MYO3A",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:35:53.702221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO3A: Changed phenotypes: Deafness, autosomal recessive 30, MIM# 607101, Deafness, autosomal dominant 90, MIM# 620722",
"entity_name": "MYO3A",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:31:32.623009+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMTC2 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant; Deafness, autosomal recessive 122, MIM# 620714",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:31:02.115641+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMTC2 were set to ",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:30:29.208352+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMTC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:29:56.838415+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TMTC2: Single family reported with bi-allelic variants. Mouse model.",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:29:39.473311+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMTC2: Changed publications: 29671961, 27311106, 37943620, 30188326; Changed phenotypes: Deafness, autosomal recessive 122, MIM# 620714; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:28:56.396519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMTC2 were changed from Deafness to Deafness, autosomal recessive 122, MIM# 620714",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:28:34.974998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMTC2 were set to 29671961; 27311106",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:28:11.117458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMTC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T20:27:51.377016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMTC2: Added comment: Single family reported with bi-allelic variants.\r\n\r\nMouse model.; Changed publications: 29671961, 27311106, 37943620, 30188326; Changed phenotypes: Deafness, autosomal recessive 122, MIM# 620714; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:31:05.432575+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMLHE as Red List (low evidence)",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:31:05.428687+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Disputed gene-disease association Classification - 03/02/2021 by ID & Autism GCEP: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a780ea6-ad4e-417a-a596-27188e327aad-2021-03-02T050000.000Z?page=1&size=25&search=",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:31:05.399605+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmlhe has been classified as Red List (Low Evidence).",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:29:49.056376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1547",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMLHE as Red List (low evidence)",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:29:49.052396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1547",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Disputed gene-disease association Classification - 03/02/2021 by ID & Autism GCEP: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a780ea6-ad4e-417a-a596-27188e327aad-2021-03-02T050000.000Z?page=1&size=25&search=",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:29:49.016900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1547",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmlhe has been classified as Red List (Low Evidence).",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:29:09.760790+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5699",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMLHE as Red List (low evidence)",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:29:09.753502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5699",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Disputed gene-disease association Classification - 03/02/2021 by ID & Autism GCEP: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a780ea6-ad4e-417a-a596-27188e327aad-2021-03-02T050000.000Z?page=1&size=25&search=",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-19T17:29:09.679283+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5699",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmlhe has been classified as Red List (Low Evidence).",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:32:59.728071+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CSF1R as ready",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:32:59.717366+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Green List (High Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:32:43.799717+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CSF1R were changed from to leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:31:03.877758+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CSF1R were set to ",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:29:55.801333+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.277",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:29:18.633672+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.276",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CSF1R as Green List (high evidence)",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:29:18.623249+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.276",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Parkinsonian signs can be a feature on the condition",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:29:18.544275+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.276",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Green List (High Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:22:52.407292+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:22:52.396410+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:22:17.553699+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: C19orf12 were changed from to neurodegeneration with brain iron accumulation 4 MONDO:0013674",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:21:25.416243+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.274",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-02-16T20:12:39.571676+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.273",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: C19orf12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:59:35.649776+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP1A3 as ready",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:59:35.637496+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:58:43.167535+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A3 were changed from to ATP1A3-associated neurological disorder MONDO:0700002",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:57:58.797139+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATP1A3 were set to ",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:56:55.609135+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:56:13.304963+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP1A3 as Green List (high evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:56:13.298165+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Parkinsonism is a major feature of the condition",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:56:13.244592+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:44:31.974993+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:44:31.962238+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:39:36.972994+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from to parkinsonism due to ATP13A2 deficiency MONDO:0017809",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:38:42.984977+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATP13A2 were set to ",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-02-16T19:27:39.387805+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-02-16T18:34:09.859541+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T18:33:25.675387+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:35:22.825369+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.217",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: LFNG as ready",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:35:22.816886+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.217",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: lfng has been classified as Green List (High Evidence).",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:33:54.645967+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.217",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM#609813",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:33:33.388173+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.216",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: LFNG were set to ",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:33:11.993836+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.216",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:33:04.950585+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.270",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: LFNG as ready",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:33:04.935078+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.270",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: lfng has been classified as Green List (High Evidence).",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:32:58.473523+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.270",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: LFNG were set to 30196550; 16385447",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:32:38.206380+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.270",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive 609813 to Spondylocostal dysostosis 3, autosomal recessive MIM#609813",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:32:05.459843+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.269",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: LFNG as Green List (high evidence)",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:32:05.448407+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.269",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: lfng has been classified as Green List (High Evidence).",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:29:30.619567+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.274",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:29:30.608109+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.274",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:29:04.607306+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.273",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:29:04.590041+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.273",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:29:02.636202+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.272",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:29:02.617740+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.272",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Red List (Low Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:28:30.110643+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.272",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to 37619988; 37384395\nPhenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related\nReview for gene: RAB34 was set to GREEN\nAdded comment: PMID: 37619988\r\n- Compound heterozygous variants identified in a fetus with multiple malformations, including a combination of rarely occurring pre- and postaxial polydactyly.\r\n- Rab34-/- mice displayed polydactyly.\r\n\r\nPMID: 37384395\r\n- Biallelic variants in RAB34 were identified in 3 unrelated families. All affected individuals presented a novel form of OFDS accompanied by prexial and central polydactyly/bilateral polysyndactyly \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:23:32.332286+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.268",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:23:32.312659+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.268",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:23:19.152614+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.268",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:23:19.143373+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.268",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:22:49.397784+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.267",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to 37619988; 37384395\nPhenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related\nReview for gene: RAB34 was set to GREEN\nAdded comment: PMID: 37619988 \r\n- Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly. \r\n- Rab34-/- mice displayed a ciliopathy phenotype with cleft palate and polydactyly. \r\n\r\nPMID: 37384395 \r\n- Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:11:16.935191+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.215",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: KIAA0586 were set to ",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:11:07.666897+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KIAA0586 as Green List (high evidence)",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:11:07.626199+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:10:56.387749+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.214",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23 MIM#616490; Short-rib thoracic dysplasia 14 with polydactyly MIM#616546",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:10:33.535701+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KIAA0586 as Green List (high evidence)",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:10:33.459058+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:10:04.540536+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.214",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:09:59.370365+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.265",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:09:59.352154+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.265",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Red List (Low Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-02-16T16:09:23.723323+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.265",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0586 were set to PMID: 36538006; 26096313; 26166481\nPhenotypes for gene: KIAA0586 were set to Joubert syndrome 23 MIM#616490; Short-rib thoracic dysplasia 14 with polydactyly MIM#616546\nReview for gene: KIAA0586 was set to GREEN\nAdded comment: PMID: 36538006 - fetus with post-axial polydactyly, short limbs and persistent left superior vena cava (PLSVC) with a dilated coronary sinus. Chet variants c.3940+1G>A\r\nand c.3303G>A (synonymous) were identified. Functional studies support an impact for both variants.\r\n\r\nPMID: 26096313 - 9 unrelated families with Joubert syndrome. MRI shows the molar tooth sign in 3/3 scanned patients. Patients tended to have biallelic PTCs, though missense also reported. p.Arg143Lysfs*4 appears to be a recurring mutation, seen in patients either as a homozygote or in chet with another unique mutation in 7/9 families. Interestingly these 7 families were of different ethnicity\r\n\r\nPMID: 26166481 - Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome. \nSources: Literature",
"entity_name": "KIAA0586",
"entity_type": "gene"
}
]
}