HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1669",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1667",
"results": [
{
"created": "2020-08-17T13:11:44.906679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:11:29.319396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SERPINB7.",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:11:17.208057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24773080, 24207119, 24514002, 31706940; Phenotypes: Palmoplantar keratoderma, Nagashima type (MIM#615598); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:10:05.464817+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINB7 as ready",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:10:05.456191+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinb7 has been classified as Green List (High Evidence).",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:09:57.943220+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINB7 were changed from to Palmoplantar keratoderma, Nagashima type (MIM#615598)",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:09:30.391666+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINB7 were set to ",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:08:47.824944+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:07:53.461021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLURP1 as ready",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:07:53.452934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slurp1 has been classified as Green List (High Evidence).",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:07:46.375600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLURP1 were changed from to Meleda disease (MIM#248300)",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:07:28.837465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLURP1 were set to ",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:05:49.400888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLURP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:05:29.969078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 10 families reported with Mal de Meleda, a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities.; to: Over 10 families reported with Mal de Meleda, a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities. Note single report of manifesting carriers.",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:05:15.652609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLURP1: Changed publications: 14674887, 32157724, 12483299, 14756676; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:04:55.778541+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLURP1 were set to 14674887; 32157724; 12483299",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:04:29.765263+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLURP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:04:01.674154+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14756676; Phenotypes: Meleda disease, MIM#248300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:59:14.600673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14674887, 32157724, 12483299; Phenotypes: Meleda disease (MIM#248300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:57:26.447039+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLURP1 as ready",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:57:26.438403+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slurp1 has been classified as Green List (High Evidence).",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:57:22.385245+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLURP1 were changed from to Meleda disease (MIM#248300)",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:56:51.320499+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLURP1 were set to ",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:56:28.253011+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLURP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:55:24.839530+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTN4 as ready",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:55:24.828071+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn4 has been classified as Green List (High Evidence).",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:55:22.538320+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN4 were changed from to Glomerulosclerosis, focal segmental, 1, MIM#603278",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:54:58.928195+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTN4 were set to ",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:54:31.922025+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:54:06.710557+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740551, 22351778, 10700177, 26301083; Phenotypes: Glomerulosclerosis, focal segmental, 1, MIM#603278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:53:03.274087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTN4 as ready",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:53:03.263855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn4 has been classified as Green List (High Evidence).",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:52:56.432033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN4 were changed from to Glomerulosclerosis, focal segmental, 1, MIM#603278",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:52:42.963516+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.87",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: PIGL was added\ngene: PIGL was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGL were set to 22444671; 31535386\nPhenotypes for gene: PIGL were set to CHIME syndrome (MIM#280000)\nReview for gene: PIGL was set to GREEN\ngene: PIGL was marked as current diagnostic\nAdded comment: Early onset migratory ichthyosiform dermatosis is characteristic of this syndrome (the 'I' in 'CHIME'). Also called Zunich neuroectodermal syndrome.\r\n\r\nIn 6 previously reported unrelated individuals with Zunich neuroectodermal syndrome, Ng et al. (PMID 22444671) identified compound heterozygosity for 2 mutations in the PIGL gene. None of the variants have homozygotes in gnomAD.\r\n\r\nA homozygous variant has also been reported in affected individuals from one family more recently (e.g. PMID 31535386). \nSources: Literature",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:52:34.819854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTN4 were set to ",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:52:16.654947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ACTN4 was changed from to Other",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:52:00.727304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:25:24.270299+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SASH1 was added\ngene: SASH1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SASH1 were set to 25315659\nPhenotypes for gene: SASH1 were set to Dyschromatosis universalis hereditaria 1 (MIM#127500)\nReview for gene: SASH1 was set to RED\ngene: SASH1 was marked as current diagnostic\nAdded comment: Associated with Dyschromatosis universalis hereditaria 1 (MIM#127500). One family reported with biallelic variants in SASH1 who had palmoplantar keratoderma (among other phenotypes), but this is the only report of palmoplantar keratoderma associated with variants in this gene that I can find. \nSources: Literature",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:23:36.572202+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KRT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 4 (MIM#615728); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:20:02.365990+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Also known as Jackson-Lawler Syndrome, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.\r\n\r\nPMID: 31823354;\r\n- cohort of 815 individuals, 134 patients had variants in KRT17\r\n- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.\r\n\r\nPMID: 31823354;\r\n- cohort of 815 individuals, 134 patients had variants in KRT17\r\n- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:15:57.442463+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.87",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581228, 22612346; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T12:15:54.386705+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.44",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KRT2 was added\ngene: KRT2 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KRT2 were set to 26581228; 22612346\nPhenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)\nPenetrance for gene: KRT2 were set to unknown\nReview for gene: KRT2 was set to GREEN\nAdded comment: Superficial epidermolytic ichthyosis (SEI), previously known as Ichthyosis bullosa of Siemens.\r\nClinical findings are similar to those of epidermolytic ichthyosis, but the phenotype is generally milder and can be quite variable in severity.\r\nSEI is clinically characterized by mild epidermal hyperkeratosis over flexural areas, blister formation, and the development of superficially denuded areas of hyperkeratotic skin. Symptoms usually improve with age.\r\n\r\nPMID: 26581228;\r\n- 7 affecteds in 4 families\r\n> all missense variants\r\n\r\nPMID: 22612346;\r\n- 2 families \r\n> missense variants \nSources: Literature",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T11:59:22.584913+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 2 (MIM#167210); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T11:06:38.508317+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAS as ready",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-08-17T11:06:38.499010+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: was has been classified as Green List (High Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-08-17T11:06:34.706982+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WAS as Green List (high evidence)",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-08-17T11:06:34.698915+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: was has been classified as Green List (High Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-08-17T11:06:12.282395+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WAS was added\ngene: WAS was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, MIM#\t301000; Thrombocytopenia, X-linked, MIM#\t313900\nReview for gene: WAS was set to GREEN\nAdded comment: Well established gene-disease association. Thrombocytopaenia is a key feature of Wiskott-Aldrich syndrome and isolated thrombocytopaenia also described with WAS variants. \nSources: Expert list",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-08-17T11:00:53.796505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VKORC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2020-08-17T11:00:35.801021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14765194, 21900891, 28198005; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473, Warfarin resistance, MIM# 122700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:56:00.897657+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VKORC1 as ready",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:56:00.888153+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vkorc1 has been classified as Green List (High Evidence).",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:55:57.652808+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VKORC1 as Green List (high evidence)",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:55:57.643899+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vkorc1 has been classified as Green List (High Evidence).",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:55:33.846983+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VKORC1 was added\ngene: VKORC1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VKORC1 were set to 14765194\nPhenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#\t607473\nReview for gene: VKORC1 was set to GREEN\nAdded comment: Severe presentation with intracranial haemorrhage in first few weeks of life reported with bi-allelic variants. \nSources: Expert list",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:39:40.323886+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VIPAS39 as ready",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:39:40.314409+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vipas39 has been classified as Green List (High Evidence).",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:39:35.836496+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VIPAS39 as Green List (high evidence)",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:39:35.827728+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vipas39 has been classified as Green List (High Evidence).",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:39:12.907929+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VIPAS39 was added\ngene: VIPAS39 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#\t613404\nReview for gene: VIPAS39 was set to GREEN\nAdded comment: A defect in platelet alpha-granule biogenesis is a key feature of the syndrome. \nSources: Expert list",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:28:26.385809+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:28:26.375181+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:28:21.734675+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS33B as Green List (high evidence)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:28:21.726208+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:27:58.273781+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS33B were set to 26399659; 16896922\nPhenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM#\t208085\nReview for gene: VPS33B was set to GREEN\nAdded comment: Reports of life-threatening haemorrhage in the context of biopsies in ARC syndrome patients, and experimental data supporting a role of VPS33B in platelet activation. \nSources: Expert list",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:18:00.510182+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB1 as ready",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:18:00.496498+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb1 has been classified as Green List (High Evidence).",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:17:56.473599+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBB1 as Green List (high evidence)",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:17:56.463978+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb1 has been classified as Green List (High Evidence).",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2020-08-17T10:17:30.493686+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBB1 was added\ngene: TUBB1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486\nPhenotypes for gene: TUBB1 were set to Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM#\t613112\nReview for gene: TUBB1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2020-08-17T09:57:54.009804+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24773080, 24207119, 24514002, 31706940; Phenotypes: Palmoplantar keratoderma, Nagashima type (MIM#615598); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T09:46:48.379661+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SLURP1: Changed publications: 14674887, 32157724, 12483299",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T09:46:41.954878+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Association with Meleda disease is well supported. Via OMIM: \"Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities.\"; to: Association with Meleda disease is well supported (>10 families). Via OMIM: \"Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities.\"",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T09:45:04.600100+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.45",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14674887, 32157724; Phenotypes: Meleda disease (MIM#248300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLURP1",
"entity_type": "gene"
},
{
"created": "2020-08-17T09:07:31.805137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3806",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACTN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26740551, 22351778, 10700177, 26301083; Phenotypes: Glomerulosclerosis, focal segmental, 1, 603278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:12:02.774133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM4 as ready",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:12:02.757987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm4 has been classified as Green List (High Evidence).",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:11:55.514113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPM4 as Green List (high evidence)",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:11:55.505544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm4 has been classified as Green List (High Evidence).",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:11:40.758287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPM4 was added\ngene: TPM4 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TPM4 were set to 28134622; 31249973; 21153663\nPhenotypes for gene: TPM4 were set to Macrothrombocytopaenia\nReview for gene: TPM4 was set to GREEN\nAdded comment: Three families reported in addition to genome-wide association studies in nearly 70,000 individuals which indicate that SNVs in TPM4 exert an effect on the count and volume of platelets. \nSources: Expert list",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:10:16.300769+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM4 as ready",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:10:16.292208+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm4 has been classified as Green List (High Evidence).",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:10:11.895338+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPM4 as Green List (high evidence)",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:10:11.885938+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm4 has been classified as Green List (High Evidence).",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:09:45.661237+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPM4 was added\ngene: TPM4 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TPM4 were set to 28134622; 31249973; 21153663\nPhenotypes for gene: TPM4 were set to Macrothrombocytopenia\nReview for gene: TPM4 was set to GREEN\nAdded comment: Three families reported in addition to genome-wide association studies in nearly 70,000 individuals which indicate that SNVs in TPM4 exert an effect on the count and volume of platelets. \nSources: Expert list",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:04:57.514603+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNXB as ready",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:04:57.504982+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnxb has been classified as Green List (High Evidence).",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:04:53.721256+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNXB as Green List (high evidence)",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:04:53.713027+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnxb has been classified as Green List (High Evidence).",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:04:31.020096+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNXB was added\ngene: TNXB was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1, MIM#\t606408\nReview for gene: TNXB was set to GREEN\nAdded comment: Can present with significant bruising. \nSources: Expert list",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:00:13.318564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THPO as ready",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:00:13.308192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thpo has been classified as Green List (High Evidence).",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T18:00:06.306473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THPO were changed from to Thrombocythemia 1, MIM# 187950",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:59:49.920724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THPO were set to ",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:59:38.067806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:59:20.421349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425899, 10583217; Phenotypes: Thrombocythemia 1, MIM# 187950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:57:27.925665+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THPO as ready",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:57:27.916910+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thpo has been classified as Green List (High Evidence).",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:57:24.275722+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THPO as Green List (high evidence)",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:57:24.267425+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thpo has been classified as Green List (High Evidence).",
"entity_name": "THPO",
"entity_type": "gene"
}
]
}