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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=616",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=614",
"results": [
{
"created": "2023-04-06T17:11:28.479632+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:10:50.415698+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:08:09.507626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:07:49.423325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:07:25.997921+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from RNH1-related disease to Neurodevelopmental disorder, MONDO:0700092, RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:06:51.546380+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:05:14.948750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1A were changed from Acrofacial dysostosis, Cincinnati type, (MIM#616462); Leukodystrophy to Acrofacial dysostosis, Cincinnati type, (MIM#616462); Leukodystrophy MONDO:0019046, POLR1A-related",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:04:42.789242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1A were set to 25913037; 28051070",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:04:15.930045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:58:37.178102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: POLR1A: Evidence for association of bi-allelic variants with leukodystrophy is moderate.",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:58:06.826698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR1A: Changed rating: GREEN; Changed phenotypes: Leukodystrophy MONDO:0019046, POLR1A-related, Acrofacial dysostosis, Cincinnati type, (MIM#616462); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:56:54.013148+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FILIP1 as ready",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:56:53.996181+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Green List (High Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:56:47.450319+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FILIP1 as Green List (high evidence)",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:56:47.442129+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Green List (High Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:56:33.240054+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168 to Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:56:15.344276+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FILIP1 as ready",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:56:15.336426+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Green List (High Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:56:11.872201+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168 to Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:55:39.151569+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FILIP1 as Green List (high evidence)",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:55:39.140880+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Green List (High Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:55:01.816729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FILIP1 as ready",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:55:01.794090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Green List (High Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:54:51.492583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168 to Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:54:25.626747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FILIP1 as Green List (high evidence)",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:54:25.619430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Green List (High Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:43:23.639928+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP63 were changed from Premature ovarian insufficiency; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292 to Premature ovarian failure-21, MIM#620311; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2023-04-06T16:43:07.635646+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Premature ovarian failure-21, MIM#620311; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:57:47.868187+10:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.93",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C1QBP was added\ngene: C1QBP was added to Rhabdomyolysis. Sources: Literature\nMode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:48:15.321534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.783",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BIN1 were set to 17676042",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:44:29.667047+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: ClinGen Definititive for semidominant for centronuclear myopathy by the Congenital myopathy GCEP - Classification - 04/27/2020",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:44:29.645959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: BIN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:36:19.809085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.781",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: VWA8 was added\ngene: VWA8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: VWA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VWA8 were set to PMID: 37012052\nPhenotypes for gene: VWA8 were set to Retinitis pigmentosa (MONDO:0019200), VWA8-related\nReview for gene: VWA8 was set to AMBER\nAdded comment: PMID: 37012052\r\n- Single family with 11 affected patients, 9 - 87y, all presented initial symptoms of night blindness, visual field defects and reduced visual acuity later, macular changes, including macular degeneration and dystrophy. A heterozygous two-loci variant in VWA8 c.3070G>A;c.4558C>T (p.Gly1024Arg; p.Arg1520Ter) was identified and segregated with disease. Expression studies showed reduced protein expression. Zebrafish knockout model displayed an RP phenotype. \nSources: Literature",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:34:28.239108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.781",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: MKL2 was added\ngene: MKL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MKL2 were set to PMID: 37013900\nPhenotypes for gene: MKL2 were set to Neurodevelopmental disorder (MONDO:0700092), MKL2-related\nMode of pathogenicity for gene: MKL2 was set to Other\nReview for gene: MKL2 was set to AMBER\nAdded comment: PMID: 37013900\r\n- de novo missense variants in MKL2 (now known as MRTFB) were identified in two patients with mild dysmorphic features, intellectual disability, global developmental delay, speech apraxia, and impulse control issues. Functional studies in a Drosophila model suggest a gain of function disease mechanism. \nSources: Literature",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:07:17.817767+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.864",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC25A36 as ready",
"entity_name": "SLC25A36",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:07:17.806670+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.864",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a36 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A36",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:05:49.938129+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.864",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC25A36 as Green List (high evidence)",
"entity_name": "SLC25A36",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:05:49.930829+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.864",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a36 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A36",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:04:02.430197+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.863",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PPCS were set to 29754768",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:03:36.242861+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.863",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PPCS as Green List (high evidence)",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2023-04-06T15:03:36.209782+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.863",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppcs has been classified as Green List (High Evidence).",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2023-04-06T14:57:37.724260+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.862",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATP5E were set to 20566710; 27626380; 20026007",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-04-06T14:55:55.514503+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP5E as Green List (high evidence)",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-04-06T14:55:55.506012+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp5e has been classified as Green List (High Evidence).",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:15:16.194609+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1838",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RNH1 as ready",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:15:16.180752+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1838",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Red List (Low Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:15:11.718348+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RNH1 as ready",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:15:11.511372+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Red List (Low Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:15:05.291269+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5199",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RNH1 as ready",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:15:05.282445+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5199",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Red List (Low Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:14:38.761784+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5199",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RNH1 as Red List (low evidence)",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:14:38.751418+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5199",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Red List (Low Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:14:16.141389+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1838",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RNH1 as Red List (low evidence)",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:14:16.127861+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1838",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Red List (Low Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:14:16.000162+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RNH1 as Red List (low evidence)",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:14:15.990095+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Red List (Low Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:14:05.429250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.781",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RNH1 as ready",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:14:05.412067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.781",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Red List (Low Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:13:30.127308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.781",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RNH1 as Red List (low evidence)",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:13:30.109816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.781",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Red List (Low Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:11:34.169327+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.97",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ESAM as ready",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:11:34.160816+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.97",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:11:22.829941+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.97",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ESAM as Green List (high evidence)",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:11:22.819567+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.97",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:10:25.544900+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1837",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ESAM as ready",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:10:25.530096+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1837",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:53.867092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.780",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ESAM as ready",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:53.858377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.780",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:47.997937+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ESAM as ready",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:47.989229+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:36.141573+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1837",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ESAM as Green List (high evidence)",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:36.129418+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1837",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:29.606116+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ESAM as Green List (high evidence)",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:29.597406+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:12.928104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.780",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ESAM as Green List (high evidence)",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:09:12.918641+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.780",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:06:00.398692+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5198",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "commented on gene: CRIPT: PMID: 37013901 identified 6 individuals with Rothmund-Thomson syndrome characterised by poikiloderma, sparse hair, small stature, skeletal defects, cancer, cataracts, resembling features of premature aging. Two new variants identified and 4 were already published. 5 were hom, 1 was chet, all with different variants.\r\nAll CRIPT individuals fulfilled the diagnostic criteria for RTS, and additionally had neurodevelopmental delay and seizures.\r\n\r\nCRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors,\r\n\r\nc.132del p.(Ala45Glyfs*82), hom\r\nc.227G>A, p.(Cys76Tyr), hom\r\nc.133_134insGG,p.(Ala45Glyfs*82),hom\r\nc.141del p.(Phe47Leufs*84), hom\r\nc.8G>A p.(Cys3Tyr), 1,331 bp del exon 1, chet\r\nc.7_8del; p.(Cys3Argfs*4), hom",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:05:40.238463+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5198",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "gene: CRIPT was added\ngene: CRIPT was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRIPT were set to PMID: 37013901\nPhenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies (MIM#615789) : Rothmund-Thomson syndrome MONDO:0010002\nReview for gene: CRIPT was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:01:22.651480+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.59",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37013901; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789), Rothmund-Thomson syndrome MONDO:0010002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:00:23.047611+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MKL2 as Amber List (moderate evidence)",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T13:00:23.037515+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:58:09.952375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRIPT were changed from Short stature with microcephaly and distinctive facies\t(MIM#615789) to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:57:42.984096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIPT as Green List (high evidence)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:57:42.976242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Green List (High Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:57:09.259697+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRIPT were changed from Short stature with microcephaly and distinctive facies, 615789 to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:56:53.513042+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRIPT were set to 24389050; 27250922",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:56:33.379193+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIPT as Green List (high evidence)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:56:33.364901+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Green List (High Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:56:16.027177+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.196",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37013901; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789), Rothmund-Thomson syndrome MONDO:0010002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:56:01.297292+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP162 as ready",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:56:01.271123+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep162 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:56:00.831787+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP162 as ready",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:56:00.824074+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep162 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:55:53.244760+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP162 as Amber List (moderate evidence)",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:55:53.234415+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep162 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:55:33.680419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP162 as ready",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:55:33.663007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep162 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:55:20.575176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP162 as Amber List (moderate evidence)",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:55:20.564836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep162 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP162",
"entity_type": "gene"
},
{
"created": "2023-04-06T12:54:45.289417+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.93",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37013901; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789), Rothmund-Thomson syndrome MONDO:0010002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRIPT",
"entity_type": "gene"
}
]
}