{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1475","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}