{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=461","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=459","results":[{"created":"2024-05-03T11:17:11.645279+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2618","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAGI2 was added\ngene: MAGI2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAGI2 were set to 26030165; 25497044; 31056551\nPhenotypes for gene: MAGI2 were set to Monogenic epilepsy, MONDO:0015653, MAGI2-related\nReview for gene: MAGI2 was set to RED\nAdded comment: Reported as a candidate gene for epilepsy but evidence is contradictory. \nSources: Expert list","entity_name":"MAGI2","entity_type":"gene"},{"created":"2024-05-03T11:11:31.196370+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2617","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNB4 as ready","entity_name":"CACNB4","entity_type":"gene"},{"created":"2024-05-03T11:11:31.178216+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb4 has been classified as Amber List (Moderate Evidence).","entity_name":"CACNB4","entity_type":"gene"},{"created":"2024-05-03T11:10:33.729197+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2617","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNB4 as Amber List (moderate evidence)","entity_name":"CACNB4","entity_type":"gene"},{"created":"2024-05-03T11:10:33.718957+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb4 has been classified as Amber List (Moderate Evidence).","entity_name":"CACNB4","entity_type":"gene"},{"created":"2024-05-03T11:09:41.121993+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2616","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNB4 was added\ngene: CACNB4 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNB4 were set to 10762541; 35813387; 31056551; 22892567\nPhenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9}\t607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6}\t607682\nReview for gene: CACNB4 was set to AMBER\nAdded comment: Good biological candidate but may be a susceptibility locus. Some of the variants reported have relatively high frequencies in gnomAD, and others are reported as part of large cohort studies with little supporting information regarding pathogenicity. \nSources: Expert list","entity_name":"CACNB4","entity_type":"gene"},{"created":"2024-05-02T20:25:52.316709+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:25:22.099955+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:25:03.317975+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:24:39.498262+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5796","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLUL were changed from Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Glutamine deficiency, congenital MIM#610015 to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:24:02.244533+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5795","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLUL: Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:23:28.457489+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2615","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:22:39.016266+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2614","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLUL: Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:22:14.632262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1765","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLUL were changed from Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Developmental and epileptic encephalopathy 116, MIM# 620806; Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:21:42.963229+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1764","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLUL: Changed phenotypes: Developmental and epileptic encephalopathy 116, MIM# 620806","entity_name":"GLUL","entity_type":"gene"},{"created":"2024-05-02T20:20:51.581956+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAGLA as ready","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:20:51.573215+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dagla has been classified as Green List (High Evidence).","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:20:47.048990+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAGLA as Green List (high evidence)","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:20:47.038972+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dagla has been classified as Green List (High Evidence).","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:20:27.133963+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAGLA was added\ngene: DAGLA was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAGLA were set to 35737950\nPhenotypes for gene: DAGLA were set to Neuroocular syndrome 2, paroxysmal type, MIM# 168885\nReview for gene: DAGLA was set to GREEN\nAdded comment: 9 individuals from 8 families reported with daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed. \nSources: Literature","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:19:21.793035+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5795","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAGLA as ready","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:19:21.783095+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5795","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dagla has been classified as Green List (High Evidence).","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:19:16.181707+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5795","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAGLA as Green List (high evidence)","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:19:16.162536+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5795","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dagla has been classified as Green List (High Evidence).","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:18:37.927126+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5794","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAGLA was added\ngene: DAGLA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAGLA were set to 35737950\nPhenotypes for gene: DAGLA were set to Neuroocular syndrome 2, paroxysmal type, MIM# 168885\nReview for gene: DAGLA was set to GREEN\nAdded comment: 9 individuals from 8 families reported with daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed. \nSources: Literature","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:16:48.640664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1764","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAGLA as ready","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:16:48.626430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1764","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dagla has been classified as Green List (High Evidence).","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:16:33.145760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1764","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAGLA as Green List (high evidence)","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:16:33.136700+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1764","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dagla has been classified as Green List (High Evidence).","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T20:16:01.774705+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1763","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAGLA was added\ngene: DAGLA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAGLA were set to 35737950\nPhenotypes for gene: DAGLA were set to Neuroocular syndrome 2, paroxysmal type, MIM#\t168885\nReview for gene: DAGLA was set to GREEN\nAdded comment: 9 individuals from 8 families reported with daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed. \nSources: Literature","entity_name":"DAGLA","entity_type":"gene"},{"created":"2024-05-02T18:32:59.764226+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.125","user_name":"Lynn Tan","item_type":"entity","text":"reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18451999, 34279792, 18577546, 34305802, 27098784; Phenotypes: GLUT1 deficiency syndrome MONDO:0000188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2024-05-02T17:20:09.873226+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.125","user_name":"Lynn Tan","item_type":"entity","text":"changed review comment from: PMID: 26677014 (2016)\r\n3 families 16 individuals, cosegregating het missense SCN8A:c.4447G>A; p.E1483K (founder effect excluded by linkage analysis). 15/16 individuals seizures in first to second year of life, 1/16 seizures at school age. 5/16 patients developed additional brief paroxysmal episodes in puberty, either dystonic/dyskinetic or \"shivering\" attacks, triggered by stretching or motor initiation (3 patients from 2 families), or emotional stimuli (2 patients who were both from the same family). \r\n\r\nPMID: 29356177 (2018)\r\nDe novo SCN8A mutation c.3640G>A (p.A1214T) in 23M with PKD\r\n\r\nPMID: 25799905 (2015)\r\nDe novo dominant SCN8A (c.3979A>G; p.Ile1327Val) in male with in utero onset of movement disorder (exaggerated startle, paroxysmal posturing and jittery movements subsiding in sleep that on clinical and encephalographic grounds were not epileptic in nature), with evolving epilepsy, epileptic encephalopathy and developmental delay; to: PMID: 26677014 (2016)\r\n3 families 16 individuals, cosegregating het missense SCN8A:c.4447G>A; p.E1483K (founder effect excluded by linkage analysis). All patients had seizures (15/16 individuals seizures in first to second year of life, 1/16 seizures at school age). 5/16 patients developed additional brief paroxysmal episodes in puberty, either dystonic/dyskinetic or \"shivering\" attacks, triggered by stretching or motor initiation (3 patients from 2 families), or emotional stimuli (2 patients who were both from the same family). \r\n\r\nPMID: 29356177 (2018)\r\nDe novo SCN8A mutation c.3640G>A (p.A1214T) in 23M with PKD\r\n\r\nPMID: 25799905 (2015)\r\nDe novo dominant SCN8A (c.3979A>G; p.Ile1327Val) in male with in utero onset of movement disorder (exaggerated startle, paroxysmal posturing and jittery movements subsiding in sleep that on clinical and encephalographic grounds were not epileptic in nature), with evolving epilepsy, epileptic encephalopathy and developmental delay","entity_name":"SCN8A","entity_type":"gene"},{"created":"2024-05-02T17:19:30.747608+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.125","user_name":"Lynn Tan","item_type":"entity","text":"reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677014, 29356177, 25799905; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"SCN8A","entity_type":"gene"},{"created":"2024-05-02T17:06:06.265520+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34541035, 24204302, 25053765, 26297882, 35137278; Phenotypes: microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0000208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRMT10A","entity_type":"gene"},{"created":"2024-05-02T16:44:07.824264+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Hali Van Niel","item_type":"entity","text":"Deleted their comment","entity_name":"STAT1","entity_type":"gene"},{"created":"2024-05-02T16:43:49.393381+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Hali Van Niel","item_type":"entity","text":"edited their review of gene: STAT1: Added comment: STAT1 associated with 3 types of immonodeficiencies \r\nImmonodeficiency 31A (AD, LoF), Immonodeficiency 31B (AR, LoF) and\r\nImmonodeficiency 31C (autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome), AD, GoF variants in STAT1 \r\n\r\n23534974: 5 patients w GOF mutation in STAT1, 3 developed type 1 diabetes mellitus\r\n33027576: 1 patient with type 1 diabetes \r\n\r\nWell established gene disease association, type 1 diabetes mellitus may present with disease; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"STAT1","entity_type":"gene"},{"created":"2024-05-02T16:43:18.296326+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 23534974, 33027576; Phenotypes: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAT1","entity_type":"gene"},{"created":"2024-05-02T16:42:38.785165+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Hali Van Niel","item_type":"entity","text":"Deleted their review","entity_name":"STAT1","entity_type":"gene"},{"created":"2024-05-02T16:42:09.960427+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: STAT1: 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: 23534974, 33027576; Phenotypes: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAT1","entity_type":"gene"},{"created":"2024-05-02T16:14:57.579733+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: STAT3: 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: 25038750, 25359994, 38020118, 30825606; Phenotypes: STAT3-related early-onset multisystem autoimmune disease MONDO:0014414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAT3","entity_type":"gene"},{"created":"2024-05-02T15:35:19.399598+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: 30237576, 31688942, 27657680, 25248098; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"DMXL2","entity_type":"gene"},{"created":"2024-05-02T15:00:50.277126+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLD1 as ready","entity_name":"POLD1","entity_type":"gene"},{"created":"2024-05-02T15:00:50.257350+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pold1 has been classified as Green List (High Evidence).","entity_name":"POLD1","entity_type":"gene"},{"created":"2024-05-02T15:00:47.253531+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males to mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157","entity_name":"POLD1","entity_type":"gene"},{"created":"2024-05-02T15:00:33.750042+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLD1 were set to 23770608","entity_name":"POLD1","entity_type":"gene"},{"created":"2024-05-02T15:00:04.652788+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF17 as ready","entity_name":"DCAF17","entity_type":"gene"},{"created":"2024-05-02T15:00:04.626419+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf17 has been classified as Green List (High Evidence).","entity_name":"DCAF17","entity_type":"gene"},{"created":"2024-05-02T15:00:01.568844+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080 to Woodhouse-Sakati syndrome MONDO:0009419","entity_name":"DCAF17","entity_type":"gene"},{"created":"2024-05-02T14:59:48.460727+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343","entity_name":"DCAF17","entity_type":"gene"},{"created":"2024-05-02T14:59:04.150673+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC3 as ready","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2024-05-02T14:59:04.131682+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc3 has been classified as Green List (High Evidence).","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2024-05-02T14:59:00.909790+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC3 were changed from Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 to juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2024-05-02T14:58:46.995281+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJC3 were set to ","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2024-05-02T14:58:21.319766+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXP3 as ready","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-05-02T14:58:21.306036+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp3 has been classified as Green List (High Evidence).","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-05-02T14:58:18.426833+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXP3 were changed from  to immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-05-02T14:58:07.529446+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXP3 were set to ","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-05-02T14:57:21.764256+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLIS3 as ready","entity_name":"GLIS3","entity_type":"gene"},{"created":"2024-05-02T14:57:21.751047+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glis3 has been classified as Green List (High Evidence).","entity_name":"GLIS3","entity_type":"gene"},{"created":"2024-05-02T14:57:18.424271+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLIS3 were changed from Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 to neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436","entity_name":"GLIS3","entity_type":"gene"},{"created":"2024-05-02T14:56:59.903477+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLIS3 were set to ","entity_name":"GLIS3","entity_type":"gene"},{"created":"2024-05-02T14:37:59.334077+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HFE as ready","entity_name":"HFE","entity_type":"gene"},{"created":"2024-05-02T14:37:59.316237+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hfe has been classified as Green List (High Evidence).","entity_name":"HFE","entity_type":"gene"},{"created":"2024-05-02T14:37:55.727965+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HFE were changed from {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300 to haemochromatosis type 1 MONDO:0021001","entity_name":"HFE","entity_type":"gene"},{"created":"2024-05-02T14:37:29.892965+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HFE were set to ","entity_name":"HFE","entity_type":"gene"},{"created":"2024-05-02T14:37:09.814652+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFR2 as ready","entity_name":"TFR2","entity_type":"gene"},{"created":"2024-05-02T14:37:09.797320+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfr2 has been classified as Green List (High Evidence).","entity_name":"TFR2","entity_type":"gene"},{"created":"2024-05-02T14:37:06.871020+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFR2 were set to ","entity_name":"TFR2","entity_type":"gene"},{"created":"2024-05-02T14:36:38.276486+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAMP as ready","entity_name":"HAMP","entity_type":"gene"},{"created":"2024-05-02T14:36:38.258755+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hamp has been classified as Green List (High Evidence).","entity_name":"HAMP","entity_type":"gene"},{"created":"2024-05-02T14:36:31.600419+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HAMP were set to ","entity_name":"HAMP","entity_type":"gene"},{"created":"2024-05-02T14:35:50.152082+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COQ9 as ready","entity_name":"COQ9","entity_type":"gene"},{"created":"2024-05-02T14:35:50.129510+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq9 has been classified as Red List (Low Evidence).","entity_name":"COQ9","entity_type":"gene"},{"created":"2024-05-02T14:35:47.010308+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COQ9 were changed from Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia to encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840","entity_name":"COQ9","entity_type":"gene"},{"created":"2024-05-02T14:35:35.538441+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COQ9 were set to ","entity_name":"COQ9","entity_type":"gene"},{"created":"2024-05-02T14:24:16.868658+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOXD12 as ready","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:24:16.854503+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd12 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:24:10.525142+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HOXD12 as Amber List (moderate evidence)","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:24:10.513130+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd12 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:23:55.178823+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.242","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HOXD12 was added\ngene: HOXD12 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXD12 were set to 38663984\nPhenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342\nReview for gene: HOXD12 was set to AMBER\nAdded comment: Identified as a candidate gene in a large cohort due to enrichment of rare variants.\r\n\r\n\r\nPMID: 38663984\r\nAround 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate. Cohort of over 1000 individuals, with several novel candidates identified.\r\n\r\nN-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot.\r\nLoss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed. \nSources: Literature","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:21:28.856164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1762","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOXD12 as ready","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:21:28.845242+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1762","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd12 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:21:19.466326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1762","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HOXD12 as Amber List (moderate evidence)","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:21:19.453010+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1762","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd12 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:20:59.364284+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1761","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HOXD12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Clubfoot (non-syndromic) MONDO:0007342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:20:26.363655+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOXD12 as ready","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:20:26.353850+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd12 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:20:18.846522+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HOXD12 as Amber List (moderate evidence)","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:20:18.834489+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd12 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:20:09.563035+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HOXD12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Clubfoot (non-syndromic) MONDO:0007342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T14:17:57.712440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1761","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKHD1L1 as ready","entity_name":"PKHD1L1","entity_type":"gene"},{"created":"2024-05-02T14:17:57.688332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkhd1l1 has been classified as Green List (High Evidence).","entity_name":"PKHD1L1","entity_type":"gene"},{"created":"2024-05-02T14:17:44.672043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1761","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKHD1L1 were set to ","entity_name":"PKHD1L1","entity_type":"gene"},{"created":"2024-05-02T14:16:17.909295+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1760","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PKHD1L1 as Green List (high evidence)","entity_name":"PKHD1L1","entity_type":"gene"},{"created":"2024-05-02T14:16:17.894614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1760","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkhd1l1 has been classified as Green List (High Evidence).","entity_name":"PKHD1L1","entity_type":"gene"},{"created":"2024-05-02T13:54:35.031177+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 15523639, 27349002, 11551504; Phenotypes: lymphedema-distichiasis syndrome MONDO:0007922; Mode of inheritance: Unknown","entity_name":"FOXC2","entity_type":"gene"},{"created":"2024-05-02T13:51:00.057697+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Lauren Rogers","item_type":"entity","text":"Deleted their review","entity_name":"EPHX1","entity_type":"gene"},{"created":"2024-05-02T13:50:53.940644+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.17","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: EPHX1 as Green List (high evidence)","entity_name":"EPHX1","entity_type":"gene"},{"created":"2024-05-02T13:50:53.922435+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.17","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ephx1 has been classified as Green List (High Evidence).","entity_name":"EPHX1","entity_type":"gene"},{"created":"2024-05-02T13:49:51.852485+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1759","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: EPHX1 as Green List (high evidence)","entity_name":"EPHX1","entity_type":"gene"}]}