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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1780",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1778",
"results": [
{
"created": "2020-06-01T16:33:03.318338+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Green List (High Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:32:32.847228+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Muscular dystrophy. Sources: Literature\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997\nPhenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures\nReview for gene: TOR1AIP1 was set to GREEN\nAdded comment: Multiple families reported but highly variable phenotype; muscular dystrophy reported frequently. \nSources: Literature",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:31:33.443795+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOR1AIP1 as ready",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:31:33.430078+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Green List (High Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:31:24.244545+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOR1AIP1 as Green List (high evidence)",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:31:24.235667+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Green List (High Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:30:17.163475+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997\nPhenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures\nReview for gene: TOR1AIP1 was set to GREEN\nAdded comment: Multiple families reported but highly variable phenotype; joint contractures observed in multiple individuals. \nSources: Literature",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:28:19.901695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOR1AIP1 were changed from Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:26:29.493371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOR1AIP1 were changed from Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:25:40.850023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOR1AIP1 as ready",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:25:40.845490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Highly variable phenotype. Few of the features are consistently reported across affected individuals.",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:25:40.811452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Green List (High Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:25:01.727413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:16:15.604557+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNP as ready",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:16:15.593688+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:16:10.552028+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNP as Amber List (moderate evidence)",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:16:10.543309+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:14:19.794782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFEMP1 as ready",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:14:19.785450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp1 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:14:12.946839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP1 were changed from to Doyne honeycomb degeneration of retina, MIM# 126600; EFEMP1-related connective tissue disorder",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:13:54.873491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFEMP1 were set to ",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:11:57.990506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFEMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:11:46.117496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2967",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZFYVE27 as Red List (low evidence)",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:11:46.108514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2967",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zfyve27 has been classified as Red List (Low Evidence).",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:11:21.975508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2966",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: None; Publications: 16826525, 29980238, 18606302; Phenotypes: Spastic paraplegia 33, autosomal dominant MIM#610244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:11:12.193889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32006683, 31792352; Phenotypes: Doyne honeycomb degeneration of retina, MIM# 126600, EFEMP1-related connective tissue disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:03:35.362174+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFEMP1 as ready",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:03:35.348980+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:03:32.465665+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFEMP1 as Amber List (moderate evidence)",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:03:32.452788+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:03:01.701163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2966",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32055997; Phenotypes: TOR1AIP1-associated nuclear envelopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T16:00:59.020226+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation to Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:59:28.974070+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A2 were set to 30740830",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:58:55.244635+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.347",
"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": "2020-06-01T15:58:08.471668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2966",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: USP8 as Green List (high evidence)",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:58:08.462874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2966",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: usp8 has been classified as Green List (High Evidence).",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:57:56.449381+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC12A2 as Green List (high evidence)",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:57:56.441272+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.346",
"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": "2020-06-01T15:57:28.543597+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.24",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: EFEMP1 was added\ngene: EFEMP1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFEMP1 were set to 32006683; 31792352\nPhenotypes for gene: EFEMP1 were set to EFEMP1-related connective tissue disorder\nReview for gene: EFEMP1 was set to AMBER\nAdded comment: New gene-disease association for EFEMP1: truncating variants (absent in gnomAD):\r\n\r\nPMID 31792352 reports one man with a pronounced connective tissue phenotype presenting multiple and recurrent abdominal and thoracic herniae, myopia, hypermobile joints, scoliosis, and thin translucent skin. This individual has no clinical signs of retinal dystrophy. \r\n\r\nPMID 32006683 reports 2 homozygous siblings (consanguinous) with multiple and recurrent herniae, pelvic and rectal prolapse, huge diverticula, marfanoid habitus, joint laxity, dorsal scoliosis, advanced bone age, pectus excavatum, dysmorphic facial features, and myopia. Both were homozygous for a truncating in VCPKMT, with no gene-disease association in OMIM, not in Panel App.\r\n\r\nBoth papers mention that studies on EFEMP1−/− mice revealed a phenotypic resemblance. \nSources: Literature",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:57:11.674425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2965",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USP8 was added\ngene: USP8 was added to Mendeliome. Sources: Expert list\nsomatic tags were added to gene: USP8.\nMode of inheritance for gene: USP8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: USP8 were set to 25675982; 24482476; 25485838; 25942478\nPhenotypes for gene: USP8 were set to Pituitary adenoma 4, ACTH-secreting, somatic MIM#219090; hereditary spastic paraplegia\nReview for gene: USP8 was set to GREEN\nAdded comment: Recurrent somatic gain of function missense variants in pituitary adenomas cause Cushing's disease.\r\nA single family reported with spastic paraplegia with a homozygous variant, and a zebrafish model with a movement disorder. \nSources: Expert list",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:56:07.425950+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC12A2 as Green List (high evidence)",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:56:07.413406+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.345",
"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": "2020-06-01T15:54:02.158697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIMS2 as ready",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:54:02.148342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:53:54.125576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS2 were changed from to nystagmus; retinal dysfunction; autism; night blindness",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:53:39.103684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIMS2 as Green List (high evidence)",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:53:39.091475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:53:14.029669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: nystagmus, retinal dysfunction, autism, night blindness; Mode of inheritance: None",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:52:15.993184+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIMS2 as ready",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:52:15.986546+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Most affected individuals reported as having autism.",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:52:15.941560+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:52:01.602863+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIMS2 as Green List (high evidence)",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:52:01.593013+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:51:18.429553+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIMS2 as ready",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:51:18.417625+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:51:14.835333+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIMS2 as Green List (high evidence)",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:51:14.826262+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:50:44.979428+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX6 as ready",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:50:44.974673+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Most individuals had ID, ranging from mild to severe.",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:50:44.940534+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox6 has been classified as Green List (High Evidence).",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:50:27.700298+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX6 as Green List (high evidence)",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:50:27.687206+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox6 has been classified as Green List (High Evidence).",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:41:16.827843+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM71 as ready",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:41:16.818536+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim71 has been classified as Green List (High Evidence).",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:41:13.634805+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TRIM71 was changed from Other to None",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:41:07.260096+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.126",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: CNP was added\ngene: CNP was added to Leukodystrophy - paediatric. 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": "2020-06-01T15:41:01.843186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2962",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TRIM71 was changed from Other to None",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:40:35.501081+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM71 as Green List (high evidence)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:40:35.492060+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim71 has been classified as Green List (High Evidence).",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:40:00.295940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2961",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TRIM71 as ready",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:40:00.283683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2961",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: trim71 has been classified as Green List (High Evidence).",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:39:46.784771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2961",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TRIM71 as Green List (high evidence)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:39:46.775506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2961",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: trim71 has been classified as Green List (High Evidence).",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:39:09.663669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCYL2 as ready",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:39:09.651791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:38:50.324278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCYL2 as Amber List (moderate evidence)",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:38:50.306971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:38:25.498542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCYL2 was added\ngene: SCYL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCYL2 were set to 31960134; 26203146\nPhenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome\nReview for gene: SCYL2 was set to AMBER\nAdded comment: Two unrelated families reported with AMC, variable other features including microcephaly. \nSources: Literature",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:37:58.628476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2958",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CNP as ready",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:37:58.619409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2958",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cnp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:37:46.516155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2958",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CNP as Amber List (moderate evidence)",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:37:46.502966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2958",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cnp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNP",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:37:21.148178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2957",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: VWA3B: Changed rating: RED",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:36:50.428697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2957",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VWA3B as Red List (low evidence)",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:36:50.421944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2957",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Single family and in vitro assay only",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:36:50.390888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2957",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vwa3b has been classified as Red List (Low Evidence).",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:36:39.788993+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.2",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RIMS2 was added\ngene: RIMS2 was added to Congenital Stationary Night Blindness. Sources: Literature\nMode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIMS2 were set to 32470375\nPhenotypes for gene: RIMS2 were set to nystagmus; retinal dysfunction; autism; night blindness\nReview for gene: RIMS2 was set to GREEN\nAdded comment: 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. Several individuals had autism. One had night blindness. \nSources: Literature",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:35:13.858213+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 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. Several individuals had autism.\r\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. Several individuals had autism. One had night blindness.\r\nSources: Literature",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:35:08.695054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2956",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 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; 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. Several individuals had autism. One had night blindness.\r\nSources: Literature",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:34:57.887828+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCYL2 as ready",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:34:57.873251+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:34:53.759215+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCYL2 as Amber List (moderate evidence)",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:34:53.746930+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:34:37.388924+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 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. \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. Several individuals had autism.\r\nSources: Literature",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:33:59.681296+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RIMS2 was added\ngene: RIMS2 was added to Autism. Sources: Literature\nMode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIMS2 were set to 32470375\nPhenotypes for gene: RIMS2 were set to nystagmus; retinal dysfunction; autism; night blindness\nReview for gene: RIMS2 was set to GREEN\nAdded comment: 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. \nSources: Literature",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:33:10.465385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2956",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VWA3B as Amber List (moderate evidence)",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:33:10.456302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2956",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vwa3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:30:19.414755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2955",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VWA3B was added\ngene: VWA3B was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: VWA3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VWA3B were set to 26157035\nPhenotypes for gene: VWA3B were set to Spinocerebellar ataxia, autosomal recessive 22 MIM#616948\nReview for gene: VWA3B was set to AMBER\nAdded comment: A homozygous missense variant was identified in 3 brothers from a single consanguineous Japanese family with autosomal recessive cerebellar ataxia. Transfection of the mutant VWA3B protein into several different cultured cell lines resulted in decreased cell viability. \nSources: Expert list",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2020-06-01T15:27:30.969910+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.344",
"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": "2020-06-01T15:26:59.937313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation to Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss",
"entity_name": "SLC12A2",
"entity_type": "gene"
}
]
}