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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1781",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1779",
"results": [
{
"created": "2020-06-01T15:26:39.972787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2953",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.\r\nSources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome. Paper says 19 individuals from 17 families. 12 were de novo.\r\nSources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:26:34.516044+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2658",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.\r\nSources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome. Paper says 19 individuals from 17 families. 12 were de novo.\r\nSources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:26:28.998806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A2 were set to 30740830",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:25:59.329191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2952",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. \r\nSources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.\r\nSources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:25:53.159767+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2658",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. \nSources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.\r\nSources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:25:30.929299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:25:29.728821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2952",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PLD3 as Amber List (moderate evidence)",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:25:29.717389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2952",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pld3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:25:09.785325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC12A2 as Green List (high evidence)",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:25:09.776255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:24:37.317027+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2658",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SOX6 was added\ngene: SOX6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX6 were set to 32442410\nPhenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas\nReview for gene: SOX6 was set to GREEN\nAdded comment: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. \nSources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:24:34.382980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2950",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLD3 was added\ngene: PLD3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLD3 were set to 29053796; 30312375; 30312384\nPhenotypes for gene: PLD3 were set to Spinocerebellar ataxia 46 MIM#617770\nReview for gene: PLD3 was set to AMBER\nAdded comment: A heterozygous missense was identified in 8 affected members of a single family with spinocerebellar ataxia, and supporting in vitro functional assays. \nSources: Expert list",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:23:34.201314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2949",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 6 LoF and 4 missense variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. \nSources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. \r\nSources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:22:19.451559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA13 as ready",
"entity_name": "SPATA13",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:22:19.445720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Adult-onset.",
"entity_name": "SPATA13",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:22:19.417196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata13 has been classified as Green List (High Evidence).",
"entity_name": "SPATA13",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:22:07.285789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPATA13 as Green List (high evidence)",
"entity_name": "SPATA13",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:22:07.277165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata13 has been classified as Green List (High Evidence).",
"entity_name": "SPATA13",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:21:21.226546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPATA13",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:18:36.431529+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SOX6 as ready",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:18:36.422693+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sox6 has been classified as Green List (High Evidence).",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:18:28.763612+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SOX6 as Green List (high evidence)",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:18:28.750463+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sox6 has been classified as Green List (High Evidence).",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:17:53.036288+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.2",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SOX6 was added\ngene: SOX6 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX6 were set to 32442410\nPhenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas\nReview for gene: SOX6 was set to GREEN\ngene: SOX6 was marked as current diagnostic\nAdded comment: 6 LoF and 4 missense variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. Sources: Literature \nSources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:15:26.723856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2948",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SOX6 as ready",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:15:26.715202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2948",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sox6 has been classified as Green List (High Evidence).",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:14:58.203665+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF3B as ready",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:14:58.191052+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:13:49.718954+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF3B as Amber List (moderate evidence)",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:13:49.708022+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:13:04.770067+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF3B was added\ngene: KIF3B was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF3B were set to 32386558\nPhenotypes for gene: KIF3B were set to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly\nReview for gene: KIF3B was set to AMBER\nAdded comment: Two unrelated families with a ciliopathy phenotype and some functional data. \nSources: Literature",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:11:07.378703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2948",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SOX6 as Green List (high evidence)",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:11:07.366334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2948",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sox6 has been classified as Green List (High Evidence).",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:10:55.417065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF3B as ready",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:10:55.404318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:10:35.943333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF3B were set to ",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:10:10.311287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF3B as Amber List (moderate evidence)",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:10:10.299051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:09:46.225079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF3B: Changed rating: AMBER",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:09:35.690578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF3B: Rating: RED; Mode of pathogenicity: None; Publications: 32386558; Phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly; Mode of inheritance: None",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:07:57.323325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2945",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POC5 as ready",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:07:57.311418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2945",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:07:45.138464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2945",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POC5 as Green List (high evidence)",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:07:45.128202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2945",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:07:16.341324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2944",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POC5 was added\ngene: POC5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POC5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POC5 were set to 25642776; 29272404\nPhenotypes for gene: POC5 were set to Idiopathic scoliosis; retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis\nReview for gene: POC5 was set to GREEN\nAdded comment: Three heterozygous missense variants identified in three families segregating with idiopathic scoliosis, and supporting zebrafish models for each of the missense variants.\r\nAlso, one case reported with retinitis pigmentosa, short stature, microcephaly, and recurrent glomerulonephritis with a homozygous truncating variant and a supporting zebrafish model. \nSources: Literature",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:06:01.422806+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ2 as ready",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:06:01.408509+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:05:59.402094+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from to long QT syndrome; Andersen-Tawil syndrome",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:05:35.388119+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ2 were set to ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:05:04.725867+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:04:13.835827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: KIF3B was added\ngene: KIF3B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF3B were set to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly\nReview for gene: KIF3B was set to AMBER\nAdded comment: 2 families reported with missense variants, one de novo and one segregating in a six-generation pedigree. Functional studies in zebrafish showed the variants result in impaired rhodopsin trafficking. \nSources: Literature",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:04:06.373961+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH2 as ready",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:04:06.361385+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh2 has been classified as Green List (High Evidence).",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:04:03.394708+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH2 were changed from to long QT syndrome",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:02:59.313119+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNH2 were set to ",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:02:29.467752+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:01:34.271538+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNE2 as ready",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:01:34.258246+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:01:31.187357+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE2 were changed from to Long QT syndrome",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:01:08.123920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 32339198; 10 unrelated probands with missense except for 2 families with inframe del of 9bp. \nSources: Literature; to: PMID: 32339198; 10 unrelated probands with missense except for 2 families with inframe del of 9bp. \r\nSources: Literature",
"entity_name": "SPATA13",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:00:51.173814+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNE2 were set to ",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:00:47.260381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SPATA13 was added\ngene: SPATA13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPATA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPATA13 were set to PMID: 32339198\nPhenotypes for gene: SPATA13 were set to primary angle-closure glaucoma\nAdded comment: PMID: 32339198; 10 unrelated probands with missense except for 2 families with inframe del of 9bp. \nSources: Literature",
"entity_name": "SPATA13",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:00:13.235222+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNE2 as Amber List (moderate evidence)",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:00:13.223151+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:59:45.329887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SOX6 was added\ngene: SOX6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX6 were set to 32442410\nPhenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas\nAdded comment: 6 LoF and 4 missense variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. \nSources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:59:15.457516+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNE1 as ready",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:59:15.448656+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:59:12.518579+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNE1 were set to ",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:58:24.247414+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE1 were changed from to long QT syndrome; acquired LQTS",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:57:52.994255+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:57:49.323341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: CNP was added\ngene: CNP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNP were set to 32128616; 12590258\nPhenotypes for gene: CNP were set to Hypomyelinating leukodystrophy\nReview for gene: CNP was set to AMBER\nAdded comment: Single consanguineous family described with homozygous missense in affected child (additional two affected deceased offspring unavailable for testing; healthy carrier parents and sibling). \r\nLoss of protein by Western blot and defect in F-actin structure and organization observed in patient fibroblasts.\r\nDeficiency of CNP in mouse has previously been shown to cause a lethal white matter neurodegenerative phenotype (PMID: 12590258), similar to the phenotype observed in this family. \nSources: Literature",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:57:22.421686+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNE1 as Amber List (moderate evidence)",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:57:22.411136+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:55:43.403149+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAV3 as ready",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:55:43.389422+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:55:40.774987+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAV3 were changed from to Long QT syndrome 9, MIM# 611818",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:55:16.956491+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAV3 were set to ",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:54:32.122449+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CAV3 was changed from to None",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:54:05.426563+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:53:39.240294+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAV3 as Amber List (moderate evidence)",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:53:39.231500+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:53:07.798405+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 9, MIM# 611818; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:50:00.197208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: SLC12A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32294086; Phenotypes: Congenital, severe to profound hearing loss, minor motor developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:49:41.274152+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:POC5 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-01T14:49:11.119659+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: POC5 were changed from to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:48:41.112504+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: POC5 were set to ",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:48:29.377184+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: POC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:46:40.085496+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1C as ready",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:46:40.071047+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Green List (High Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:46:36.852969+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from Long QT syndrome 8, MIM#\t618447; Timothy syndrome, MIM#\t601005 to Long QT syndrome 8, MIM#\t618447; Timothy syndrome, MIM#\t601005",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:46:15.886073+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from to Long QT syndrome 8, MIM#\t618447; Timothy syndrome, MIM#\t601005",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:45:53.499775+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.15",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TRIM71 was added\ngene: TRIM71 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633\nPhenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1\t618667\nMode of pathogenicity for gene: TRIM71 was set to Other\nReview for gene: TRIM71 was set to GREEN\nAdded comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child.\r\n\r\nPMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder\r\n\r\nPMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism. \nSources: Literature",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:45:35.478431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29983323, 32168371, 30975633; Phenotypes: Hydrocephalus, congenital communicating, 1 618667; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:45:27.081315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:45:07.644692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Segregates with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. \nSources: Literature; to: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. \r\nSources: Literature",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:45:06.163088+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:44:44.647929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2943",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TRIM71 was added\ngene: TRIM71 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633\nPhenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1\t618667\nMode of pathogenicity for gene: TRIM71 was set to Other\nAdded comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child.\r\n\r\nPMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder\r\n\r\nPMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism. \nSources: Literature",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:44:35.314414+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:43:35.476452+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANK2: Changed phenotypes: Long QT syndrome 4, MIM# 600919",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:43:24.827042+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ANK2.",
"entity_name": "ANK2",
"entity_type": "gene"
}
]
}