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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1475",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1473",
"results": [
{
"created": "2020-12-18T18:20:44.271368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777; Dystonia 9, MIM#601042; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-18T18:20:24.505937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A1 were set to ",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-18T18:20:04.941577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-18T16:44:23.168378+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF7 as ready",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-12-18T16:44:23.160593+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf7 has been classified as Green List (High Evidence).",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-12-18T16:43:58.176388+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAF7 as Green List (high evidence)",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-12-18T16:43:58.166097+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf7 has been classified as Green List (High Evidence).",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-12-18T16:43:30.577034+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAF7 was added\ngene: TRAF7 was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRAF7 were set to 32459067; 32376980; 29961569\nPhenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay, MIM#\t618164\nReview for gene: TRAF7 was set to GREEN\nAdded comment: Over 50 affected individuals reported. Craniofacial abnormalities are common, including craniosynostosis in more than 3. \nSources: Expert Review",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-12-18T14:37:51.710344+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-12-18T14:37:18.595953+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-12-18T14:37:00.396143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-12-18T14:36:40.106998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-12-18T14:36:24.389043+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-12-18T14:35:54.547338+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-12-18T14:35:40.565382+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-12-18T14:35:06.490013+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-12-18T13:35:58.212091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5677",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18451999, 20129935, 10980529, 20221955, 31196579; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126, {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-18T10:20:14.577508+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-17T19:11:32.130081+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDON as ready",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T19:11:32.115307+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdon has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T19:11:27.495715+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDON as Amber List (moderate evidence)",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T19:11:27.488193+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdon has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T16:02:43.740400+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDON as ready",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T16:02:43.732750+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdon has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T16:02:38.894329+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDON were set to 21802063; 26529631",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T16:02:16.512780+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T13:30:43.276736+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary\r\n\r\nPMID: 29749693: absent pituitary not mentioned as a feature of K/O mice\r\n\r\nPMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)\r\n\r\nPMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome. \r\nPMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.\r\n\r\nPMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary\r\n\r\nSummary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary\r\n\r\nPMID: 29749693: absent pituitary not mentioned as a feature of K/O mice\r\n\r\nPMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)\r\n\r\nPMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome. \r\nPMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.\r\n\r\nPMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary\r\n\r\nSummary: 3 patients",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T13:30:31.590064+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary\r\n\r\nPMID: 29749693: absent pituitary not mentioned as a feature of K/O mice\r\n\r\nPMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)\r\n\r\nPMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome. \r\nPMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.\r\n\r\nPMID: 27974186: has anterior pituitary hypoplasia and ectopic posterior pituitary\r\n\r\nSummary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary\r\n\r\nPMID: 29749693: absent pituitary not mentioned as a feature of K/O mice\r\n\r\nPMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)\r\n\r\nPMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome. \r\nPMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.\r\n\r\nPMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary\r\n\r\nSummary: 3 patients",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T13:30:03.187135+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21802063, 29749693, 32729136, 33270637, 26529631, 27974186; Phenotypes: Holoprosencephaly 11 MIM#614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-17T12:13:15.796763+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.74",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CDON was added\ngene: CDON was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: CDON was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDON were set to PMID: 32729136\nPhenotypes for gene: CDON were set to Holoprosencephaly 11\tMIM#614226\nReview for gene: CDON was set to AMBER\nAdded comment: Isolated example of chet (both splice) siblings with isolated coloboma. Parents were normal.\r\nSupported by mouse model. \r\nReviews a hom patient (PTC) in another case also with retinal coloboma, dev delay, dysmorphic features and an additional hom MAPRE2 variant (gene has not be associated to coloboma) \nSources: Literature",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-12-16T08:41:58.949608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3281",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:59:37.088931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC1 as ready",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:59:37.081499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc1 has been classified as Green List (High Evidence).",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:59:23.007821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:58:30.975414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC1 were set to ",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:58:12.815555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:57:53.864341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 33315086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:27:25.599808+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POR as ready",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:27:25.587924+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: por has been classified as Green List (High Evidence).",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:27:22.008075+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:26:54.554218+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:26:25.867167+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:22:36.368147+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POR as ready",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:22:36.357764+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: por has been classified as Green List (High Evidence).",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:22:16.352076+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POR were changed from to Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:22:08.026222+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POR were set to ",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:21:56.143027+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POR was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:21:36.370238+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242900; Phenotypes: Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:15:49.065855+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POR as ready",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:15:49.054646+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: por has been classified as Green List (High Evidence).",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:15:46.237302+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:15:14.294993+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POR were set to ",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:14:51.632279+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T20:14:05.318432+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27068427; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:09:22.643737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POR as ready",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:09:22.633971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: por has been classified as Green List (High Evidence).",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:09:14.243049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:08:54.443941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POR were set to ",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:08:35.522087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:06:16.603962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH6 as ready",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:06:16.596064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh6 has been classified as Green List (High Evidence).",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:06:02.569777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3 MIM#614089; Congenital heart disease; Cardiomyopathy, dilated, 1EE MIM#613252; Cardiomyopathy, hypertrophic, 14 MIM#613251; {Sick sinus syndrome 3} MIM#614090",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:05:43.756627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH6 were set to ",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:05:25.437213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-12-15T18:05:03.846277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32656206, 31638415, 29969989, 29536580, 29332214, 30681346; Phenotypes: Atrial septal defect 3 MIM#614089, Congenital heart disease, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:57:12.241052+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EZH2 as ready",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:57:12.232733+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezh2 has been classified as Green List (High Evidence).",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:57:09.113355+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:56:38.029805+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EZH2 were set to ",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:55:59.399588+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:55:28.620532+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:54:46.707234+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EZH2 as ready",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:54:46.696077+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezh2 has been classified as Green List (High Evidence).",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:54:44.093015+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:54:16.602822+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EZH2 were set to ",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:53:48.344671+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:53:17.344255+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:52:27.584009+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EZH2 as ready",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:52:27.573243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezh2 has been classified as Green List (High Evidence).",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:52:23.533190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:51:52.409871+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EZH2 were set to ",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:51:22.996242+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:50:49.782599+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:49:22.757458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EZH2 as ready",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:49:22.746503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezh2 has been classified as Green List (High Evidence).",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:49:05.904339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:48:48.527729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EZH2 were set to ",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:48:24.844981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T17:47:59.588938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T14:30:51.607636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5665",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27068427; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-12-15T11:43:54.849588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5665",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 3 MIM#614089, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-12-15T11:18:54.916859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5665",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29244146; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-12-15T11:13:42.328040+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3278",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29152729; Phenotypes: 5-fluorouracil toxicity MIM#274270, Dihydropyrimidine dehydrogenase deficiency MIM#274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-12-14T20:14:15.837106+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG5 was added\ngene: COG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG5 were set to 23228021; 31572517; 32174980\nPhenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612\nReview for gene: COG5 was set to GREEN\nAdded comment: More than 5 unrelated families reported. Intellectual disability is part of the phenotype. \nSources: Expert Review",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T20:12:41.748862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG6 as ready",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T20:12:41.741319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Green List (High Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T20:12:32.103825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type IIl, MIM# 614576",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T20:12:12.901762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG6 were set to ",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T20:11:42.190181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T20:11:22.671520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl, MIM# 614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG6",
"entity_type": "gene"
}
]
}