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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1104",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1102",
"results": [
{
"created": "2021-12-03T19:12:48.181395+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIDINS220 as Green List (high evidence)",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:12:48.170246+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kidins220 has been classified as Green List (High Evidence).",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:12:41.180829+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIDINS220 was added\ngene: KIDINS220 was added to Severe early-onset obesity. Sources: Expert Review\nMode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIDINS220 were set to 27005418; 29667355; 33763417\nPhenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296\nReview for gene: KIDINS220 was set to GREEN\nAdded comment: Seven individuals from five unrelated families have been reported with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) syndrome (OMIM:617296) associated with monoallelic variants in the KIDINS220 gene. Phenotypes include early-onset obesity. \nSources: Expert Review",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:09:17.255875+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELOVL1 as Green List (high evidence)",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:09:17.238986+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elovl1 has been classified as Green List (High Evidence).",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:09:02.454715+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELOVL1 was added\ngene: ELOVL1 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELOVL1 were set to 29496980; 32123819; 30487246\nPhenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527\nReview for gene: ELOVL1 was set to GREEN\nAdded comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism.\r\n\r\nSame two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model. \nSources: Literature",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:06:33.848951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADK were set to 21963049; 17120046",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:06:17.042691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ADK: Three additional families reported, liver disease prominent.",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:06:01.019855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADK: Changed publications: 21963049, 17120046, 33309011",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:05:22.937728+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADK were set to 21963049; 17120046",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:04:49.402303+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADK as Green List (high evidence)",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:04:49.392179+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adk has been classified as Green List (High Evidence).",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:04:06.012733+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADK: Added comment: Additional cases with neonatal cholestasis.; Changed rating: GREEN; Changed publications: 21963049, 17120046, 33309011",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2021-12-03T19:00:36.405219+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:59:43.433074+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP9A as Green List (high evidence)",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:59:43.422022+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Green List (High Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:59:18.648328+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Added comment: Four unrelated families and mouse model.; Changed rating: GREEN; Changed publications: 34379057, 34764295",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:58:35.479375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP9A as ready",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:58:35.468457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Green List (High Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:25:58.293231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:25:37.131581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP9A as Green List (high evidence)",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:25:37.122206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Green List (High Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:25:23.973585+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:25:20.360924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34379057, 34764295; Phenotypes: Neurodevelopmental delay, Postnatal microcephaly, Failure to thrive, Gastrointestinal symptoms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:24:46.360716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP9A as Green List (high evidence)",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:24:46.349657+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Green List (High Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:24:16.031400+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Changed rating: GREEN",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:23:52.719247+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Added comment: Four unrelated families and mouse model.; Changed publications: 34379057, 34764295",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:21:21.211136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECM1 as ready",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:21:21.201679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecm1 has been classified as Green List (High Evidence).",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:20:39.844535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECM1 were changed from to Urbach-Wiethe disease #247100",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:20:18.831406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ECM1 were set to ",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:19:59.086316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant. \r\n\r\nPMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants. \r\n\r\nPMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.; to: Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane \r\n\r\nPMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant. \r\n\r\nPMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants. \r\n\r\nPMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:19:18.390246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ECM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:18:56.901715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11929856, 28720532, 33159951; Phenotypes: Urbach-Wiethe disease #247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:13:38.527048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066 to Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:13:23.498745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMPX were set to 21549342; 21549336; 21893181; 22911656; 28542515",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:13:01.832259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMPX: Added comment: PMID 33974137: Four different missense variants were identified in ten patients from nine families in five different countries. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. Clinical features: adult-onset, usually distal more than proximal limb muscle weakness, slowly progressing over decades with preserved walking. Lower limb muscle imaging showed a characteristic pattern of muscle involvement and fatty degeneration. Histopathological and electron microscopic analysis of patient muscle biopsies revealed myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. In silico predictions and subsequent cell culture studies showed that the missense mutations increase aggregation propensity of the SMPX protein. In cell culture studies, overexpressed SMPX localized to stress granules and slowed down their clearance.; Changed publications: 21549342, 21549336, 21893181, 22911656, 28542515, 33974137; Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Distal myopathy, adult-onset",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:03:21.755239+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANSL1 as ready",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:03:21.745883+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Green List (High Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:03:16.282965+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KANSL1 as Green List (high evidence)",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:03:16.271933+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Green List (High Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2021-12-03T18:03:08.791420+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KANSL1 was added\ngene: KANSL1 was added to Growth failure. Sources: Expert Review\nSV/CNV tags were added to gene: KANSL1.\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KANSL1 were set to 22544363\nPhenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome (MIM#610443)\nReview for gene: KANSL1 was set to GREEN\nAdded comment: Well established gene-disease association. Short stature in around a third of affected individuals. \nSources: Expert Review",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:56:54.866287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO1 were changed from Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 to Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Erythrocytosis",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:56:33.420308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIEZO1 were set to 23695678; 26333996",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:56:11.789578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33181827; Phenotypes: Erythrocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:55:27.344157+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380 to Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380; Erythrocytosis",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:55:13.625897+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIEZO1 were set to 22529292; 21944700; 23695678; 23479567",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:54:56.109567+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIEZO1: Added comment: Pathogenic variants (gain-of-function missense) in the PIEZO1 has been previously identified as a cause of hereditary xerocytosis. Recently, it has been Identified that similar (likely) pathogenic GoF missense variants likely causes erythrocytosis in 5 individuals. Functional analysis confirms pathogenicity of the variants. Patients also displayed features of hereditary xerocytosis.; Changed publications: 21944700, 23695678, 23479567, 33181827; Changed phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380, Erythrocytosis",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:53:35.274121+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC30A10 as ready",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:53:35.253139+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:53:24.933649+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC30A10 as Green List (high evidence)",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:53:24.924213+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:53:17.937495+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC30A10 was added\ngene: SLC30A10 was added to Red cell disorders. Sources: Expert Review\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A10 were set to 22341972; 22341971; 29193034\nPhenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280\nReview for gene: SLC30A10 was set to GREEN\nAdded comment: Erythrocytosis/polycythaemia is a feature. \nSources: Expert Review",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:51:23.010059+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ4 as ready",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:51:22.996875+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:50:13.830053+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ4 as Green List (high evidence)",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:50:13.819548+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:50:01.262626+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ4 was added\ngene: COQ4 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ4 were set to 30225196; 33704555; 30847826\nPhenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Childhood-onset ataxia\nReview for gene: COQ4 was set to GREEN\nAdded comment: At least 6 individuals from 4 families reported as having ataxia. \nSources: Literature",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:47:56.082064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNKSR2 as ready",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:47:56.072489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnksr2 has been classified as Green List (High Evidence).",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:47:46.726872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:47:28.485679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNKSR2 were set to ",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:47:11.309181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNKSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:46:51.697225+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNKSR2 as ready",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:46:51.686554+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnksr2 has been classified as Green List (High Evidence).",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:46:46.779589+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:46:10.733125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; 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": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:45:57.599501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNKSR2 were set to ",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:45:16.840337+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNKSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:45:05.333783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF5 as ready",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:45:05.322687+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf5 has been classified as Green List (High Evidence).",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:44:46.199341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CNKSR2: Changed 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": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:44:37.781535+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: None",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:42:59.271200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF5 as Green List (high evidence)",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:42:59.260331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf5 has been classified as Green List (High Evidence).",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:42:31.078180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF5 was added\ngene: FGF5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF5 were set to 24989505\nPhenotypes for gene: FGF5 were set to Hypertrichosis\nReview for gene: FGF5 was set to GREEN\nAdded comment: Two families reported, aware of additional unpublished case. \nSources: Literature",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:42:15.547142+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF5 as ready",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:42:15.536574+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf5 has been classified as Green List (High Evidence).",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:41:23.832795+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF5 as Green List (high evidence)",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:41:23.823444+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf5 has been classified as Green List (High Evidence).",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:40:22.063891+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF5 was added\ngene: FGF5 was added to Hypertrichosis syndromes. Sources: Literature\nMode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF5 were set to 24989505\nPhenotypes for gene: FGF5 were set to Hypertrichosis\nReview for gene: FGF5 was set to GREEN\nAdded comment: Two families reported, aware of additional unpublished case. \nSources: Literature",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:37:57.293347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37, MIM# 615493 to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:37:38.518337+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK3 were set to 23390136; 28687526",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:37:21.294255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANK3 as Green List (high evidence)",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:37:21.285427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank3 has been classified as Green List (High Evidence).",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:37:06.471754+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37 615493 to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:37:00.602278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANK3: Added comment: PMID 34218362: four unrelated novel, and two previously published patients with heterozygos ANK3 LoF variants are reported/summarized.; Changed rating: GREEN; Changed publications: 23390136, 28687526, 34218362; Changed phenotypes: Mental retardation, autosomal recessive, 37 615493, Intellectual disability, autosomal dominant",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:35:31.727747+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANK3 as Green List (high evidence)",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:35:31.717954+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank3 has been classified as Green List (High Evidence).",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:34:53.574137+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANK3: Added comment: PMID 34218362: four unrelated novel, and two previously published patients with heterozygos ANK3 LoF variants are reported/summarized.; Changed rating: GREEN; Changed publications: 23390136, 28687526, 34218362",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:30:58.725632+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGDHL as ready",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:30:58.716452+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdhl has been classified as Green List (High Evidence).",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:30:53.699835+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGDHL as Green List (high evidence)",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:30:53.689464+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdhl has been classified as Green List (High Evidence).",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:30:23.179549+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGDHL as ready",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:30:23.168886+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdhl has been classified as Green List (High Evidence).",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:30:17.936819+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGDHL as Green List (high evidence)",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2021-12-03T17:30:17.927509+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdhl has been classified as Green List (High Evidence).",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2021-12-03T16:29:52.249571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBADH as ready",
"entity_name": "HIBADH",
"entity_type": "gene"
}
]
}