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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1666",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1664",
"results": [
{
"created": "2020-08-20T10:02:13.795588+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HNRNPA2B1 as Amber List (moderate evidence)",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T10:02:13.787754+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T10:00:42.258179+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNRNPA2B1 was added\ngene: HNRNPA2B1 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965\nPhenotypes for gene: HNRNPA2B1 were set to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422\nReview for gene: HNRNPA2B1 was set to AMBER\nAdded comment: One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model. \nSources: Literature",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T09:38:38.503955+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HNRNPA1 as ready",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2020-08-20T09:38:38.495370+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpa1 has been classified as Red List (Low Evidence).",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2020-08-20T09:29:56.981849+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNRNPA1 was added\ngene: HNRNPA1 was added to Early-onset Dementia. Sources: Other\nMode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPA1 were set to 24612671; 24119545; 23455423\nPhenotypes for gene: HNRNPA1 were set to Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424; Amyotrophic lateral sclerosis 20 MIM#615426\nReview for gene: HNRNPA1 was set to RED\nAdded comment: I cannot find any evidence that pathogenic variants in this gene cause dementia. The conditions associated with the gene are a pure ALS without FTD and myopathy. \nSources: Other",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:57:48.821774+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LOR as ready",
"entity_name": "LOR",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:57:48.813569+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lor has been classified as Green List (High Evidence).",
"entity_name": "LOR",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:39:59.380444+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LOR as Green List (high evidence)",
"entity_name": "LOR",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:39:59.372460+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lor has been classified as Green List (High Evidence).",
"entity_name": "LOR",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:39:01.675173+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT2 as ready",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:39:01.666252+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt2 has been classified as Red List (Low Evidence).",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:38:35.513731+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT2 as Red List (low evidence)",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:38:35.502236+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt2 has been classified as Red List (Low Evidence).",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:38:05.113764+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-19T19:08:59.013255+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.91",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: LOR was added\ngene: LOR was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LOR were set to 11703298; 9326323; 8673107; 9326398; 25234742\nPhenotypes for gene: LOR were set to Vohwinkel syndrome with ichthyosis MIM#604117\nReview for gene: LOR was set to GREEN\ngene: LOR was marked as current diagnostic\nAdded comment: Multiple families reported (14, as of PMID:25234742). Honeycomb palmoplantar keratoderma (PPK) and generalized, mild ichthyosis are characteristic.\r\n\r\nFrom OMIM: Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance. \nSources: Literature",
"entity_name": "LOR",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:46:49.365241+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.91",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: KRT2 was added\ngene: KRT2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. 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 22612346; 26581228; 17970808\nPhenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)\nReview for gene: KRT2 was set to AMBER\ngene: KRT2 was marked as current diagnostic\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\n\r\nPPK is not a feature of this disease. However, according to Cervantes et al (PMID: 22612346): \"Another important difference between EI [epidermolytic ichthyosis] and SEI is palmoplantar keratoderma (PPK), which affects 60% of patients with EI but is never seen with SEI. Although blistering usually spares the palms and soles in SEI, some patients have shown involvement, making it difficult to determine the clinical difference between this and PPK in EI.\" One case report is in PMID: 17970808.\r\n\r\nI don't know if this belongs on this panel. \nSources: Literature",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:19:37.749688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS2 as ready",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:19:37.741205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos2 has been classified as Green List (High Evidence).",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:19:31.390312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM#616559, AD",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:19:17.010784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to ",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:19:05.877191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOS2 was changed from to Other",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:18:56.072794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:13:56.132189+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP4F22 as ready",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:13:56.122520+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:13:51.994378+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP4F22 as Amber List (moderate evidence)",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:13:51.984821+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:13:02.115760+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSC as ready",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:13:02.104491+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:12:55.913917+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSC as Green List (high evidence)",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:12:55.904595+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:12:21.383778+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBTPS2 as ready",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:12:21.366826+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:12:12.086599+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MBTPS2 as Green List (high evidence)",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T18:12:12.077927+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T17:46:51.705534+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.88",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is \"Palmoplantar keratoderma (in some patients)\" associated with this condition, but I can only find the one family. \nSources: Literature; to: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK (PMID: 18034255). OMIM states there is \"Palmoplantar keratoderma (in some patients)\" associated with this condition, but I can only find the one family. \r\nSources: Literature",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2020-08-19T17:46:32.314466+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.88",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: CYP4F22 was added\ngene: CYP4F22 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP4F22 were set to 16436457; 18034255; 32069299\nPhenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5 MIM#604777\nReview for gene: CYP4F22 was set to AMBER\ngene: CYP4F22 was marked as current diagnostic\nAdded comment: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is \"Palmoplantar keratoderma (in some patients)\" associated with this condition, but I can only find the one family. \nSources: Literature",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2020-08-19T17:29:01.187252+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.88",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: CTSC was added\ngene: CTSC was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSC were set to 11106356; 32601924\nPhenotypes for gene: CTSC were set to Papillon-Lefevre syndrome (MIM#245000)\nReview for gene: CTSC was set to GREEN\ngene: CTSC was marked as current diagnostic\nAdded comment: Papillon-Lefevre syndrome manifests with PPK. Sufficient unrelated patients (>10) for gene-disease association. \nSources: Literature",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:50:45.105623+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CST3 as ready",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:50:45.092276+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Green List (High Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:50:33.488660+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GSN as ready",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:50:33.477874+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gsn has been classified as Red List (Low Evidence).",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:50:24.514544+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GSN was added\ngene: GSN was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GSN were set to Amyloidosis, Finnish type MIM#105120\nReview for gene: GSN was set to RED\nAdded comment: I could not find any evidence of a gene-disease association with dementia. Hereditary motor and sensory neuropathy is reported as the neurological phenotype. \nSources: Expert list",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:43:25.839852+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.88",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to Olmsted syndrome, X-linked\t(MIM#300918); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); IFAP syndrome with or without BRESHECK syndrome (MIM#308205)\nPenetrance for gene: MBTPS2 were set to unknown\nReview for gene: MBTPS2 was set to GREEN\nAdded comment: Palmoplantar keratoderma is a feature of keratosis follicularis spinulosa decalvans and Olmsted syndrome.\r\n\r\nErythroderma is a feature of IFAP syndrome with or without BRESHECK syndrome. \nSources: Literature",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:39:31.992269+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTA as ready",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:39:31.975029+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csta has been classified as Green List (High Evidence).",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:39:26.988808+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSTA as Green List (high evidence)",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:39:26.980681+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csta has been classified as Green List (High Evidence).",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:33:15.179931+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CST3 as Green List (high evidence)",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:33:15.171917+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Green List (High Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:32:52.101165+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele geneotype, combined OR 1.6. \r\nSources: Expert list; to: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele genotype, combined OR 1.6. \r\nSources: Expert list",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:32:41.932055+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but the combined OR for the homozygote (rs1064039) minor allele is modest risk at 1.6. \nSources: Expert list; to: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele geneotype, combined OR 1.6. \r\nSources: Expert list",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:31:52.144968+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CST3 was added\ngene: CST3 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423\nPhenotypes for gene: CST3 were set to Cerebral amyloid angiopathy MIM#105150\nMode of pathogenicity for gene: CST3 was set to Other\nReview for gene: CST3 was set to GREEN\nAdded comment: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but the combined OR for the homozygote (rs1064039) minor allele is modest risk at 1.6. \nSources: Expert list",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:29:40.881144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3839",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26173643; Phenotypes: Noonan syndrome 9, MIM#616559, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:24:23.244702+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.87",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: CSTA: Changed publications: 23534700, 21944047, 25400170, 12890214",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:23:32.530203+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.87",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: CSTA: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 4 #607936",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:23:28.912657+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.87",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Associated with peeling skin syndrome. Hyperkeratosis and PPK are features. \nSources: Literature; to: Associated with peeling skin syndrome (at least 4 families). Hyperkeratosis and PPK are features. \r\nSources: Literature",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:22:44.119872+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.87",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: CSTA was added\ngene: CSTA was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSTA were set to 23534700; 21944047; 25400170\nPhenotypes for gene: CSTA were set to Peeling skin syndrome 4\t#607936\ngene: CSTA was marked as current diagnostic\nAdded comment: Associated with peeling skin syndrome. Hyperkeratosis and PPK are features. \nSources: Literature",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:15:35.971591+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CERS3 as ready",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:15:35.962678+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cers3 has been classified as Green List (High Evidence).",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:15:31.269728+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CERS3 as Green List (high evidence)",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:15:31.260250+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cers3 has been classified as Green List (High Evidence).",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:14:36.783182+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant 302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:14:18.828748+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBP as ready",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:14:18.819969+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Green List (High Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:14:15.320359+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EBP as Green List (high evidence)",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:14:15.310922+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Green List (High Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:12:37.353601+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NIPAL4 as ready",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:12:37.343066+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nipal4 has been classified as Green List (High Evidence).",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:12:33.329653+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NIPAL4 as Green List (high evidence)",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:12:33.321674+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nipal4 has been classified as Green List (High Evidence).",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:11:29.680083+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSDHL as ready",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:11:29.670851+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsdhl has been classified as Green List (High Evidence).",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:11:16.948587+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSDHL as Green List (high evidence)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:11:16.940497+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsdhl has been classified as Green List (High Evidence).",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:10:27.201431+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDSN as ready",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:10:27.190203+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdsn has been classified as Green List (High Evidence).",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:10:22.925911+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDSN as Green List (high evidence)",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:10:22.918296+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdsn has been classified as Green List (High Evidence).",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:09:48.002700+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKP1 as ready",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:09:47.991211+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkp1 has been classified as Green List (High Evidence).",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:09:44.628537+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKP1 as Green List (high evidence)",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:09:44.620405+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkp1 has been classified as Green List (High Evidence).",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:09:05.409964+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA1 as ready",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:09:05.399361+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla1 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:09:01.749606+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNPLA1 as Green List (high evidence)",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:09:01.739738+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla1 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:08:19.569712+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMP as ready",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:08:19.558765+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomp has been classified as Green List (High Evidence).",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:08:14.678629+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMP as Green List (high evidence)",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:08:14.670627+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomp has been classified as Green List (High Evidence).",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:07:03.082118+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDR9C7 as ready",
"entity_name": "SDR9C7",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:07:03.074092+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdr9c7 has been classified as Green List (High Evidence).",
"entity_name": "SDR9C7",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:06:56.145068+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SDR9C7 as Green List (high evidence)",
"entity_name": "SDR9C7",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:06:56.135203+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdr9c7 has been classified as Green List (High Evidence).",
"entity_name": "SDR9C7",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:05:33.854017+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAOK1 as ready",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:05:33.843330+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taok1 has been classified as Green List (High Evidence).",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:05:28.867667+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAOK1 were changed from to Intellectual disability; macrocephaly",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:05:03.595558+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAOK1 were set to ",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2020-08-19T16:04:36.160485+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TAOK1",
"entity_type": "gene"
}
]
}