{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1317","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1315","results":[{"created":"2021-05-29T21:11:58.704701+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ipo8 has been classified as Green List (High Evidence).","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:11:34.675236+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IPO8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34010604; Phenotypes: ; Mode of inheritance: None","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:11:08.801396+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7711","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IPO8 were set to ","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:10:29.134038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7710","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IPO8 as Green List (high evidence)","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:10:29.122986+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7710","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ipo8 has been classified as Green List (High Evidence).","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:10:11.125429+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7709","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IPO8: Changed rating: GREEN; Changed publications: 34010604","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:02:54.032079+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3798","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFU1 as ready","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:02:54.022342+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3798","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfu1 has been classified as Green List (High Evidence).","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:02:49.147373+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3798","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFU1 were changed from  to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:02:26.317848+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFU1 as ready","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:02:26.308086+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfu1 has been classified as Green List (High Evidence).","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:02:23.188713+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFU1 were changed from  to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:02:09.612586+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3797","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFU1 were set to ","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:01:51.534267+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.628","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFU1 were set to ","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:01:38.588713+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3796","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:01:12.027561+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3795","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:00:49.803228+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.627","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:00:11.036932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7709","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFU1 as ready","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:00:11.026669+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7709","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfu1 has been classified as Green List (High Evidence).","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T21:00:07.398937+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:59:55.077767+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7709","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFU1 were changed from  to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:59:42.209928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7708","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFU1 were set to ","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:59:17.749481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7707","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:59:00.255760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7706","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:57:17.541402+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFU1 as ready","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:57:17.525609+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfu1 has been classified as Green List (High Evidence).","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:56:59.104986+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFU1 as Green List (high evidence)","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:56:59.095647+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfu1 has been classified as Green List (High Evidence).","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:56:34.966934+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NFU1 was added\ngene: NFU1 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFU1 were set to 22077971; 25918518; 28470589; 31516295; 32669393; 31461310\nPhenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Pulmonary hypertension in early infancy\nReview for gene: NFU1 was set to GREEN\nAdded comment: Biallelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe neonatal onset disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, leukodystrophy, lactic acidosis, and early death. \r\n\r\nMore than 50% of infant patients are found to display significant PAH, which can initially be an isolated and prominent finding (PMID: 22077971; 25918518; 28470589; 31516295; 32669393). Pulmonary samples from NFU1-deficient individuals with PAH showed obstructive vasculopathy with proximal and acinar arterial involvement (PMID: 22077971). \r\n\r\nHumanised rare model of NFU1 deficiency showed features of mitochondrial dysfunction comparable to those observed in patients and also developed PAH (PMID: 31461310) \nSources: Expert list","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-05-29T20:54:13.290998+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7706","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: RAB11B: NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem.","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:53:54.733502+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB11B as ready","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:53:54.723455+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11b has been classified as Green List (High Evidence).","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:53:50.386978+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB11B were changed from  to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:53:22.103025+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB11B were set to ","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:52:53.688474+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1089","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:52:22.123393+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:51:29.247248+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3795","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB11B as ready","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:51:29.237081+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3795","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11b has been classified as Green List (High Evidence).","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:51:21.187027+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:51:07.157895+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3795","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB11B were changed from  to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:50:37.534810+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3794","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB11B were set to ","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:50:13.367403+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3793","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:49:44.732649+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3792","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:48:40.883589+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7706","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB11B as ready","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:48:40.873458+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7706","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11b has been classified as Green List (High Evidence).","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:48:32.355556+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7706","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB11B were changed from  to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:48:14.426144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7705","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB11B were set to ","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:47:57.764493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7704","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:47:39.610806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7703","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2021-05-29T20:42:38.564534+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7703","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UFSP2 as ready","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:42:38.554745+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7703","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ufsp2 has been classified as Green List (High Evidence).","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:42:27.373881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7703","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFSP2 were changed from  to Neurodevelopmental disorder; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:42:08.791413+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7702","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UFSP2 were set to ","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:41:46.752477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7701","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UFSP2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:41:25.479305+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7700","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all.\r\n\r\nHip dysplasia: single 8 generation family reported.\r\n\r\nSpondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all. Additional cases identified through the 100,000 Genomes project.\r\n\r\nHip dysplasia: single 8 generation family reported.\r\n\r\nSpondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:41:02.226000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7700","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UFSP2: Changed rating: GREEN","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:40:55.182503+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3792","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UFSP2 as Green List (high evidence)","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:40:55.172280+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3792","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ufsp2 has been classified as Green List (High Evidence).","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:40:26.552454+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:40:20.280566+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UFSP2: Added comment: Additional cases identified in 100,000 Genomes project.; Changed rating: GREEN; Changed phenotypes: Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:39:29.678732+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:39:02.807863+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UFSP2 as Green List (high evidence)","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:39:02.797954+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ufsp2 has been classified as Green List (High Evidence).","entity_name":"UFSP2","entity_type":"gene"},{"created":"2021-05-29T20:33:23.905155+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7700","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL13 as ready","entity_name":"KLHL13","entity_type":"gene"},{"created":"2021-05-29T20:33:23.896072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7700","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl13 has been classified as Red List (Low Evidence).","entity_name":"KLHL13","entity_type":"gene"},{"created":"2021-05-29T20:33:13.379708+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7700","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLHL13 was added\ngene: KLHL13 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KLHL13 were set to 24627108\nPhenotypes for gene: KLHL13 were set to HMSN\nReview for gene: KLHL13 was set to RED\nAdded comment: Single family (two affected males) with an inherited peripheral neuropathy, no functional analysis. \nSources: Expert Review","entity_name":"KLHL13","entity_type":"gene"},{"created":"2021-05-29T20:25:00.595238+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7699","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRX as ready","entity_name":"PRX","entity_type":"gene"},{"created":"2021-05-29T20:25:00.581910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7699","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prx has been classified as Green List (High Evidence).","entity_name":"PRX","entity_type":"gene"},{"created":"2021-05-29T20:24:47.818891+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7699","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRX were changed from  to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900","entity_name":"PRX","entity_type":"gene"},{"created":"2021-05-29T20:24:14.145840+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7698","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRX were set to ","entity_name":"PRX","entity_type":"gene"},{"created":"2021-05-29T20:23:33.407480+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7697","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRX","entity_type":"gene"},{"created":"2021-05-29T20:23:14.777187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7696","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRX","entity_type":"gene"},{"created":"2021-05-29T20:06:36.671069+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7696","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEKHG5 as ready","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2021-05-29T20:06:36.660493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7696","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekhg5 has been classified as Green List (High Evidence).","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2021-05-29T20:06:16.387240+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7696","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEKHG5 were changed from  to Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2021-05-29T20:05:56.333359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7695","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLEKHG5 were set to ","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2021-05-29T20:05:28.922687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7694","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLEKHG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2021-05-29T20:04:05.191361+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7693","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564964, 23777631, 23844677, 33492783, 33275839, 33220101, 23777631; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2021-05-29T19:56:28.749948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7693","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEFL as ready","entity_name":"NEFL","entity_type":"gene"},{"created":"2021-05-29T19:56:28.738886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7693","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nefl has been classified as Green List (High Evidence).","entity_name":"NEFL","entity_type":"gene"},{"created":"2021-05-29T19:56:17.202243+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEFL were changed from  to Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 1F, MIM# 607734; Charcot-Marie-Tooth disease, type 2E 607684","entity_name":"NEFL","entity_type":"gene"},{"created":"2021-05-29T19:55:05.352688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7692","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEFL were set to ","entity_name":"NEFL","entity_type":"gene"},{"created":"2021-05-29T19:54:46.366326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7691","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEFL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEFL","entity_type":"gene"},{"created":"2021-05-29T19:54:29.761122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7690","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: None; Publications: 10841809, 12393795, 14733962, 24887401, 25877835, 20039262, 12566280, 29191368, 28902413; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEFL","entity_type":"gene"},{"created":"2021-05-28T17:39:32.550640+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADNP as ready","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:39:32.540104+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adnp has been classified as Green List (High Evidence).","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:39:26.738511+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADNP were changed from  to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:38:04.250711+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADNP were set to ","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:37:32.417750+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:37:07.097687+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491, 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:36:26.637004+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADNP as ready","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:36:26.626425+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adnp has been classified as Green List (High Evidence).","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:36:22.274658+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADNP were changed from  to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:35:56.847112+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3790","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADNP were set to ","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:35:30.637215+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3789","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:34:59.211664+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491, 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:33:31.510089+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7690","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADNP as ready","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:33:31.488247+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adnp has been classified as Green List (High Evidence).","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:33:21.794920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7690","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADNP were changed from  to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:33:04.151995+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7689","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADNP were set to ","entity_name":"ADNP","entity_type":"gene"}]}