{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1219","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1217","results":[{"created":"2021-09-06T15:31:27.840067+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf668 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:31:25.364324+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9068","user_name":"Kristin Rigbye","item_type":"entity","text":"gene: CACNA1I was added\ngene: CACNA1I was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CACNA1I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1I were set to 33704440\nPhenotypes for gene: CACNA1I were set to Neurodevelopmental disorder\nMode of pathogenicity for gene: CACNA1I was set to Other\nReview for gene: CACNA1I was set to GREEN\nAdded comment: 4 different missense variants identified and shown to result in a gain of function.\r\n\r\n2 individuals with de novo variants (a 3rd also suspected de novo but their father was unavailable for testing) - these patients all had severe neurodevelopmental disorders, involving severe global developmental delay, absence of speech, gross motor delay, muscular hypotonia, early-onset seizures, cortical visual impairment, and feeding difficulties. Variable clinical features include various brain malformations, startle response or seizures, postnatal growth retardation, gastroesophageal reflux, and gastrostomy.\r\n\r\n1 family had three affected individuals - variable cognitive impairment in all, involving borderline intellectual functioning or mild or moderate intellectual disability as main clinical feature, with late-onset seizures in the mother and speech retardation in one of the children. This variant had a milder functional effect than the variants in sporadic cases. \nSources: Literature","entity_name":"CACNA1I","entity_type":"gene"},{"created":"2021-09-06T15:30:38.689696+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9068","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34375587, 17847003, 25039795; Phenotypes: Mental retardation, autosomal recessive, 6 MIM# 611092, nonsyndromic neurodevelopmental disorder (NDD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIK2","entity_type":"gene"},{"created":"2021-09-06T15:30:24.835514+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4098","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: ZNF668: Changed rating: AMBER","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:29:57.964401+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.44","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: ZNF668: Changed rating: AMBER","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:29:37.484668+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.44","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 5 individuals from 3 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \nSources: Literature; to: 2 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \r\nSources: Literature","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:29:26.423137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9068","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 5 individuals from 3 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \r\nSources: Literature; to: 2 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \r\nSources: Literature","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:28:04.548246+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA1 as ready","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-09-06T15:28:04.534427+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama1 has been classified as Green List (High Evidence).","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-09-06T15:27:59.853161+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMA1 as Green List (high evidence)","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-09-06T15:27:59.842832+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama1 has been classified as Green List (High Evidence).","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-09-06T15:27:44.183585+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMA1 as Green List (high evidence)","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-09-06T15:27:44.174142+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama1 has been classified as Green List (High Evidence).","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-09-06T15:27:32.071552+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9068","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: GLIS1 as ready","entity_name":"GLIS1","entity_type":"gene"},{"created":"2021-09-06T15:27:32.059647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9068","user_name":"Seb Lunke","item_type":"entity","text":"Gene: glis1 has been classified as Red List (Low Evidence).","entity_name":"GLIS1","entity_type":"gene"},{"created":"2021-09-06T15:27:23.483032+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.44","user_name":"Paul De Fazio","item_type":"entity","text":"gene: ZNF668 was added\ngene: ZNF668 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF668 were set to 34313816; 26633546\nPhenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism\nReview for gene: ZNF668 was set to GREEN\ngene: ZNF668 was marked as current diagnostic\nAdded comment: 5 individuals from 3 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \nSources: Literature","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:27:15.478689+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9068","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: GLIS1 were changed from Increased ocular pressure to Increased ocular pressure; Glaucoma","entity_name":"GLIS1","entity_type":"gene"},{"created":"2021-09-06T15:26:30.624314+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMA1 was added\ngene: LAMA1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA1 were set to 34423300\nPhenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, MIM#\t615960\nReview for gene: LAMA1 was set to GREEN\nAdded comment: Four families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients -- included due to phenotypic overlap. \nSources: Literature","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-09-06T15:26:21.358579+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4098","user_name":"Paul De Fazio","item_type":"entity","text":"gene: ZNF668 was added\ngene: ZNF668 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF668 were set to 34313816; 26633546\nPhenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism\nReview for gene: ZNF668 was set to GREEN\ngene: ZNF668 was marked as current diagnostic\nAdded comment: 5 individuals from 3 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \nSources: Literature","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:26:16.801094+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9067","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Functional studies in KO mice show increased intra-ocular pressure (IOT) caused by defects in the ocular drainage system. IOT is frequently associated with Glaucoma, however mice were not investigated for glaucoma, and no patients described. \nSources: Literature; to: Functional studies in KO mice show increased intra-ocular pressure (IOT) caused by defects in the ocular drainage system. IOT is frequently associated with Glaucoma, however mice were not investigated for glaucoma, and no patients described. \r\n\r\nThe authors did show dysregulation of GLIS1 in a human cell line study, and performed linkage analysis suggesting an association of the GLIS1 locus with Glaucoma in UK biobank samples.\r\nSources: Literature","entity_name":"GLIS1","entity_type":"gene"},{"created":"2021-09-06T15:25:16.595368+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9067","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 5 individuals from 3 consanguineous families reported with different truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism. \r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \nSources: Literature; to: 5 individuals from 3 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.\r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \r\nSources: Literature","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:22:50.808684+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9067","user_name":"Ain Roesley","item_type":"entity","text":"gene: CFAP206 was added\ngene: CFAP206 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP206 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFAP206 were set to Multiple morphological abnormalities of the fagella\nPenetrance for gene: CFAP206 were set to unknown\nReview for gene: CFAP206 was set to AMBER\nAdded comment: 1x hom with a fs variant\r\n\r\nSperm from knockout mouse model mainly had a fagellum of normal length but most of them showed abnormal forms including bent and coiled fagella. There was also a significant increase of sperm cells with absent or short fagella compared to the WT mice. \nSources: Literature","entity_name":"CFAP206","entity_type":"gene"},{"created":"2021-09-06T15:22:47.384688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9067","user_name":"Paul De Fazio","item_type":"entity","text":"gene: ZNF668 was added\ngene: ZNF668 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF668 were set to 34313816; 26633546\nPhenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism\nReview for gene: ZNF668 was set to GREEN\ngene: ZNF668 was marked as current diagnostic\nAdded comment: 5 individuals from 3 consanguineous families reported with different truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism. \r\n\r\nImmunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. \nSources: Literature","entity_name":"ZNF668","entity_type":"gene"},{"created":"2021-09-06T15:22:35.900782+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC32A1 as ready","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:22:35.890495+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc32a1 has been classified as Green List (High Evidence).","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:22:28.717187+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1187","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC32A1 as Green List (high evidence)","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:22:28.707387+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc32a1 has been classified as Green List (High Evidence).","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:21:56.744078+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1186","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC32A1 was added\ngene: SLC32A1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC32A1 were set to 34038384\nPhenotypes for gene: SLC32A1 were set to Genetic epilepsy with febrile seizures plus\nReview for gene: SLC32A1 was set to GREEN\nAdded comment: 8 unrelated families reported, including segregation evidence in two large pedigrees. Variants are predicted to alter γ-aminobutyric acid (GABA) transport into synaptic vesicles, leading to altered neuronal inhibition. \nSources: Literature","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:21:22.924901+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9067","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC32A1 as ready","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:21:22.915449+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc32a1 has been classified as Green List (High Evidence).","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:21:14.079124+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9067","user_name":"Seb Lunke","item_type":"entity","text":"gene: GLIS1 was added\ngene: GLIS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GLIS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLIS1 were set to 34385434\nPhenotypes for gene: GLIS1 were set to Increased ocular pressure\nReview for gene: GLIS1 was set to RED\nAdded comment: Functional studies in KO mice show increased intra-ocular pressure (IOT) caused by defects in the ocular drainage system. IOT is frequently associated with Glaucoma, however mice were not investigated for glaucoma, and no patients described. \nSources: Literature","entity_name":"GLIS1","entity_type":"gene"},{"created":"2021-09-06T15:20:30.835539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9066","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC32A1 as Green List (high evidence)","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:20:30.823224+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9066","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc32a1 has been classified as Green List (High Evidence).","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T15:20:13.550608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9065","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC32A1 was added\ngene: SLC32A1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC32A1 were set to 34038384\nPhenotypes for gene: SLC32A1 were set to Genetic epilepsy with febrile seizures plus\nReview for gene: SLC32A1 was set to GREEN\nAdded comment: 8 unrelated families reported, including segregation evidence in two large pedigrees. Variants are predicted to alter γ-aminobutyric acid (GABA) transport into synaptic vesicles, leading to altered neuronal inhibition. \nSources: Literature","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2021-09-06T14:51:16.102846+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA1 as ready","entity_name":"GATA1","entity_type":"gene"},{"created":"2021-09-06T14:51:16.093428+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata1 has been classified as Green List (High Evidence).","entity_name":"GATA1","entity_type":"gene"},{"created":"2021-09-06T14:51:13.826885+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367","entity_name":"GATA1","entity_type":"gene"},{"created":"2021-09-06T14:51:07.054168+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Myelodysplastic syndrome (MDS), Paediatric; Diamond-Blackfan anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Diamond Blackfan Anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; 300367 Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 to Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367","entity_name":"GATA1","entity_type":"gene"},{"created":"2021-09-06T14:50:47.194271+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA1: Changed publications: 30228860, 24766296, 22706301","entity_name":"GATA1","entity_type":"gene"},{"created":"2021-09-06T14:50:27.734425+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA1: Changed phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367","entity_name":"GATA1","entity_type":"gene"},{"created":"2021-09-06T14:49:17.215069+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9064","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: G6PD as ready","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:49:17.204769+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9064","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pd has been classified as Green List (High Evidence).","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:49:08.007420+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9064","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: G6PD were changed from Haemolytic anemia, G6PD deficient (favism), MIM# 300908 to Haemolytic anaemia, G6PD deficient (favism), MIM# 300908","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:48:51.035632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9063","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: G6PD were changed from  to Haemolytic anemia, G6PD deficient (favism), MIM# 300908","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:48:32.167056+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9062","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: G6PD were set to ","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:48:15.273650+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9061","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: G6PD was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:47:54.925275+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9060","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18177777; Phenotypes: Haemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:46:57.656605+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: G6PD as ready","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:46:57.642748+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pd has been classified as Green List (High Evidence).","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:46:55.358060+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: G6PD were changed from Haemolytic anemia, G6PD deficient (favism), MIM# 300908 to Haemolytic anaemia, G6PD deficient (favism), MIM# 300908","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:46:47.153953+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: G6PD were changed from 300908 Hemolytic anemia, G6PD deficient (favism); Enzyme Disorder; 300908 Hemolytic anemia due to G6PD deficiency; Hemolytic anemia due to G6PD deficiency, 300908 to Haemolytic anemia, G6PD deficient (favism), MIM# 300908","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:46:28.265327+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"G6PD","entity_type":"gene"},{"created":"2021-09-06T14:44:33.146059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9060","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPB42 as ready","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:44:33.108035+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9060","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epb42 has been classified as Green List (High Evidence).","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:44:26.321191+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9060","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPB42 were changed from  to Spherocytosis, type 5, MIM# 612690","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:44:08.864401+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9059","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPB42 were set to ","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:43:49.685869+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9058","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPB42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:43:30.081933+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9057","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: None; Publications: 1558976, 7803799, 7772513; Phenotypes: Spherocytosis, type 5, MIM# 612690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:42:40.465668+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPB42 as ready","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:42:40.454230+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epb42 has been classified as Green List (High Evidence).","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:42:37.628654+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPB42 were changed from Spherocytosis, type 5, 612690; 612690 Hereditary spherocytosis type 5; RBC membrane abnormality; Hereditary spherocytosis type 5; 612690 Spherocytosis, type 5; EPB42-related hereditary spherocytosis; Minkowski-Chauffard disease; Spherocytosis, Recessive; Elliptocytosis to Spherocytosis, type 5, MIM# 612690","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:42:21.171711+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPB42 were set to 12176912; 7772513; 1558976","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:42:05.374299+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EPB42: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:41:52.294440+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: None; Publications: 1558976, 7803799, 7772513; Phenotypes: Spherocytosis, type 5, MIM# 612690; Mode of inheritance: None","entity_name":"EPB42","entity_type":"gene"},{"created":"2021-09-06T14:35:38.684037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9057","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPB41 as ready","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:35:38.674808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9057","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epb41 has been classified as Green List (High Evidence).","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:35:30.745218+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9057","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPB41 were changed from  to Elliptocytosis-1, MIM# 611804","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:35:14.325466+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9056","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPB41 were set to ","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:34:57.028484+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9055","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPB41 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:34:37.372882+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9054","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942936, 32807033, 27667160, 21839655; Phenotypes: Elliptocytosis-1, MIM# 611804; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:32:34.422656+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPB41 as ready","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:32:34.410607+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epb41 has been classified as Green List (High Evidence).","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:32:31.553243+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPB41 were changed from Elliptocytosis-1,611804; RBC membrane abnormality; 611804 Hereditary elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis; Hereditary elliptocytosis to Elliptocytosis-1, MIM# 611804","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:32:20.810555+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPB41 were set to 8423235; 1430200; 3134067","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:32:08.638237+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPB41 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:31:56.547947+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942936, 32807033, 27667160, 21839655; Phenotypes: Elliptocytosis-1, MIM# 611804; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPB41","entity_type":"gene"},{"created":"2021-09-06T14:27:55.961397+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9054","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHFR as ready","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:27:55.943535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9054","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhfr has been classified as Green List (High Evidence).","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:27:47.708236+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9054","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHFR were changed from  to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:27:29.048317+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9053","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHFR were set to ","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:27:09.030081+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9052","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:26:50.091042+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9051","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310276, 21310277; Phenotypes: Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:25:12.416148+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHFR as ready","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:25:12.405736+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhfr has been classified as Green List (High Evidence).","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:25:10.210095+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHFR were changed from Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:24:54.424924+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310276, 21310277; Phenotypes: Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-09-06T14:18:17.671792+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9051","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYB5R3 as ready","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:18:17.662388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9051","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb5r3 has been classified as Green List (High Evidence).","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:18:04.642275+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9051","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYB5R3 were changed from  to Methaemoglobinaemia, type I and II, MIM# 250800","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:17:41.808441+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9050","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYB5R3 were set to ","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:17:25.405384+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9049","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYB5R3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:17:08.802548+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9048","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2107882, 1707593, 12393396; Phenotypes: Methaemoglobinaemia, type I and II, MIM# 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:16:18.403339+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYB5R3 as ready","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:16:18.393766+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb5r3 has been classified as Green List (High Evidence).","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:16:16.414034+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYB5R3 were changed from Methemoglobinaemia, type I and II, MIM# 250800 to Methaemoglobinaemia, type I and II, MIM# 250800","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:12:10.688923+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYB5R3 were changed from Methaemoglobinaemia; 250800 Methemoglobinemia; Methaemoglobinaemia type I and II, 250800; 250800 Methaemoglobinaemia type I and II to Methemoglobinaemia, type I and II, MIM# 250800","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:11:54.808781+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYB5R3 were set to 18318771; 15921385","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T14:11:39.409668+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2107882, 1707593, 12393396; Phenotypes: Methemoglobinaemia, type I and II, MIM# 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-09-06T11:48:03.716465+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: NIPA1 as Red List (low evidence)","entity_name":"NIPA1","entity_type":"str"},{"created":"2021-09-06T11:48:03.712084+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: This is an association/risk allele rather than high-risk disease-causing expansion, and not useful in the clinical diagnostic setting.","entity_name":"NIPA1","entity_type":"str"}]}