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=1833",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1831",
"results": [
{
"created": "2020-04-20T14:47:19.451949+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCC1 were changed from Barrett esophagus/esophageal adenocarcinoma, 614266 (3) to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:46:23.870457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCC1 as ready",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:46:23.861630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:46:14.006521+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RXFP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:46:06.580732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCC1 were changed from to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:45:40.849046+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD2 as ready",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:45:40.839272+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:45:33.313937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASCC1 were set to ",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:44:56.578135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:44:43.022361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2386",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FEM1B was added\ngene: FEM1B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FEM1B were set to PMID: 31036916\nPhenotypes for gene: FEM1B were set to Syndromic global developmental delay\nReview for gene: FEM1B was set to AMBER\nAdded comment: No OMIM phenotype\r\n\r\nPMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein.\r\n\r\nHave selected AMBER for now - not sure if GeneMatcher findings can be used as a 3rd case \nSources: Literature",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:44:20.064015+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD2 as Green List (high evidence)",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:44:20.054784+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:43:40.369356+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD2 was added\ngene: SMAD2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD2 were set to 29967133\nPhenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease\nReview for gene: SMAD2 was set to GREEN\nAdded comment: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome. \nSources: Literature",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:43:11.734849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD2 as ready",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:43:11.722573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:42:39.007448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD2 were changed from to Aortic and arterial aneurysmal disease; connective tissue disease",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:42:03.797341+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RXFP2 as Red List (low evidence)",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:42:03.782298+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rxfp2 has been classified as Red List (Low Evidence).",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:41:49.759241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD2 were set to ",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:41:41.203708+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD3 as ready",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:41:41.193708+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:41:22.285525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2384",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RXFP2 as Red List (low evidence)",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:41:22.279622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2384",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only single reported family with animal model reported. Both reviews to date are based on same publication. No new publications/reported cases since this one.",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:41:22.238425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2384",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rxfp2 has been classified as Red List (Low Evidence).",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:40:46.912742+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2383",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "changed review comment from: Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.; to: Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.\r\n\r\nNo particular geno-pheno correlation, but location of missense variants within the ATPase domain of MSCHD1 may contribute to the differences in phenotypic outcome (PMID: 31243061)",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:40:33.690738+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:40:10.492132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2383",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:40:07.901639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2383",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:39:45.371185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:38:33.094693+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RXFP2: Rating: RED; Mode of pathogenicity: None; Publications: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:37:53.023687+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD3 were set to ",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:37:27.496803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RXFP2 as ready",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:37:27.487779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rxfp2 has been classified as Red List (Low Evidence).",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:37:18.948467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RXFP2 were changed from to Cryptorchidism",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:37:00.172111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RXFP2 were set to ",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:36:44.115865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RXFP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:36:34.566305+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2536",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: SLC44A1 was added\ngene: SLC44A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC44A1 were set to 31855247\nPhenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria\nReview for gene: SLC44A1 was set to GREEN\ngene: SLC44A1 was marked as current diagnostic\nAdded comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial. \nSources: Literature",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:36:17.068810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RXFP2 as Red List (low evidence)",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:36:17.055156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rxfp2 has been classified as Red List (Low Evidence).",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:35:55.945549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RXFP2: Rating: RED; Mode of pathogenicity: None; Publications: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:35:12.018219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2378",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: WIPI2 was added\ngene: WIPI2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WIPI2 were set to 30968111\nPhenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies\t618453\nReview for gene: WIPI2 was set to AMBER\nAdded comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function. \nSources: Literature",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:35:05.930477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2378",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: SEC31A was added\ngene: SEC31A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC31A were set to PMID: 30464055\nPhenotypes for gene: SEC31A were set to congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive\nReview for gene: SEC31A was set to AMBER\nAdded comment: Frameshift. c.2776_2777, TA duplication, causing predicted p.A927fs*61 truncation and predicted NMD in 2 affected siblings in consanguineous Bedouin family with severe congenital neurological syndrome with spastic paraplegia, multiple contractures, profound developmental delay and convulsions. Failure to thrive. Lethal by age 4 years. Also had hearing defect, bilateral congenital cataract, horizontal nystagmus, with flat retina and optic atrophy. Supporting functional assays from knockout drosophila. \nSources: Literature",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:34:38.802602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2378",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: SLC44A1 was added\ngene: SLC44A1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC44A1 were set to 31855247\nPhenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria\nReview for gene: SLC44A1 was set to GREEN\nAdded comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial. \nSources: Literature",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:34:24.408568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2377",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30307510, 31015262; Phenotypes: congenital vertebral malformations, congenital scoliosis, spondylocostal dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:33:08.224332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2377",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31600781; Phenotypes: Bosma arhinia microphthalmia syndrome, MIM 603457, Fascioscapulohumeral muscular dystrophy 2, digenic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:32:31.638034+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKDCC as Amber List (moderate evidence)",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:32:31.629074+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkdcc has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:31:37.135645+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKDCC was added\ngene: PKDCC was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKDCC were set to 30478137; 19097194\nPhenotypes for gene: PKDCC were set to Rhizomelia; dysmorphism\nReview for gene: PKDCC was set to AMBER\nAdded comment: Two unrelated consanguineous families reported with different homozygous variants\r\nPre-existing mouse model has similar phenotype \nSources: Literature",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:29:45.618917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2377",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27080038, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, Epileptic encephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:29:20.582371+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.14",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606302, 30668708, 30548383, 30759870; Phenotypes: Ehlers-Danlos Syndrome (EDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:28:04.213784+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:24:30.781782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2377",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GSX2 was added\ngene: GSX2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSX2 were set to PMID: 31412107\nPhenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2\t618646\nReview for gene: GSX2 was set to GREEN\nAdded comment: PMID: 31412107 - 2 unrelated patients with homozygous mutations (nonsense, missense). Functional analysis of the missense in transfected HeLa cells demonstrated protein mislocalization and protein expression. Downstream gene expression was also reduced by both mutations.\r\n\r\nSummary: GREEN - 2 patients and functional evidence \nSources: Literature",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:23:43.708030+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD3 as ready",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:23:43.699305+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:23:13.496115+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21217753, 30661052; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:23:00.809017+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:22:37.885002+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD3 were set to ",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:22:07.612307+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:21:07.059051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPEF2 as ready",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:21:07.045915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spef2 has been classified as Green List (High Evidence).",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:20:46.074672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPEF2 as Green List (high evidence)",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:20:46.063202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spef2 has been classified as Green List (High Evidence).",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:19:53.516784+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTCF as ready",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:19:53.506453+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctcf has been classified as Green List (High Evidence).",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:19:48.560898+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTCF were changed from to Mental retardation, autosomal dominant 21 (MIM#615502)",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:19:22.392481+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTCF were set to ",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:18:54.978172+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTCF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:18:40.480068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2376",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CREB3L1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:17:50.228461+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHH as ready",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:17:50.216461+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhh has been classified as Green List (High Evidence).",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:17:46.412312+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHH as Green List (high evidence)",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:17:46.402901+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhh has been classified as Green List (High Evidence).",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:17:36.595849+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHH was added\ngene: DHH was added to Hereditary Neuropathy - complex. Sources: Expert Review\nMode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHH were set to 31018998; 29471294; 11017805\nPhenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM#\t607080\nReview for gene: DHH was set to GREEN\nAdded comment: Neuropathy is part of the phenotype of this DSD. \nSources: Expert Review",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:15:14.196936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2376",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: PKDCC as ready",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:15:14.183800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2376",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: pkdcc has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:15:04.964410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2376",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: PKDCC as Amber List (moderate evidence)",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:15:04.959049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2376",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two unrelated consanguineous families reported with different homozygous variants\r\nPre-existing mouse model has similar phenotype\r\nNeeds more functional evidence or further reported families",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:15:04.921749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2376",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: pkdcc has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:13:19.687180+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.16",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21217753, 30661052; Phenotypes: Loeys-Dietz syndrome 3 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:08:54.414747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2375",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: SPEF2 was added\ngene: SPEF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPEF2 were set to 31151990; 31278745; 31048344\nPhenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751\nReview for gene: SPEF2 was set to GREEN\ngene: SPEF2 was marked as current diagnostic\nAdded comment: More than 3 unrelated families reported, all PTVs or splice variant. Functional studies showed SPEF2 protein levels were reduced in patients’ spermatozoa. (PMIDs: 31151990, 31278745, 31048344). \nSources: Literature",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:07:15.667337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHH were changed from to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM#\t607080",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:06:30.457688+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2532",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 31239556; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:06:00.469019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHH were set to ",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:05:37.670245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:05:30.983240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2372",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ACKR3 was added\ngene: ACKR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ACKR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACKR3 were set to PMID: 3121183\nPhenotypes for gene: ACKR3 were set to Oculomotor synkinesis\nReview for gene: ACKR3 was set to AMBER\nAdded comment: No phenotype currently listed in OMIM\r\n\r\nPMID: 3121183 - 1 family (3 siblings and a cousin) with congenital ptosis and oculomotor synkinesis. Mouse model reciprocated the phenotype. Functional assay using transfected HEK293 cells show protein mislocalization and lower binding affinity\r\n\r\nEmerging gene-disease association \nSources: Literature",
"entity_name": "ACKR3",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:05:08.487351+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHH as ready",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:05:08.478411+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhh has been classified as Green List (High Evidence).",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:04:57.540356+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHH were changed from to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM#\t607080",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:03:54.345661+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHH were set to ",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:03:01.545853+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:02:44.766399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2372",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "edited their review of gene: CYLD: Changed publications: 10835629, 16307661, 12950348, 19807742, 32185393",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:01:47.629947+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAB21L1 were set to 30487245",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:01:11.758005+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27418595, 30538173, 31570783, 18830233, 10331975; Phenotypes: Atrial septal defect 6 MIM#613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TLL1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:00:13.956529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCN as ready",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:00:13.916697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Green List (High Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:58:46.851715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2372",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CYLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835629, 16307661, 12950348, 19807742; Phenotypes: Brooke-Spiegler syndrome, 605041, Cylindromatosis, familial, 132700, Trichoepithelioma, multiple familial, 1, 601606, Frontotemporal dementia and amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:58:23.092437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from to Feingold syndrome 1; megalencephaly; ventriculomegaly; hypoplastic corpus callosum; intellectual disability; polydactyly; neuroblastoma",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:58:07.365154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNNM4 as ready",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:58:07.355915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnnm4 has been classified as Green List (High Evidence).",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:57:52.435600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2371",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18469813, 30287595; Phenotypes: PCDH19-related epilepsy (early seizure onset, generalised or focused seizures), cognitive impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "PCDH19",
"entity_type": "gene"
}
]
}