{"count":220437,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1518","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1516","results":[{"created":"2020-11-01T21:58:56.547994+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr1h4 has been classified as Green List (High Evidence).","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T21:58:48.612374+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NR1H4 was added\ngene: NR1H4 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NR1H4 were set to 26888176; 32443034\nPhenotypes for gene: NR1H4 were set to Cholestasis, progressive familial intrahepatic, 5, MIM#\t617049\nReview for gene: NR1H4 was set to GREEN\nAdded comment: Autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy.\r\n\r\nAt least 5 unrelated families reported. \nSources: Expert list","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T21:54:31.386127+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JAG1 as ready","entity_name":"JAG1","entity_type":"gene"},{"created":"2020-11-01T21:54:31.378842+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jag1 has been classified as Green List (High Evidence).","entity_name":"JAG1","entity_type":"gene"},{"created":"2020-11-01T21:54:27.896775+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JAG1 as Green List (high evidence)","entity_name":"JAG1","entity_type":"gene"},{"created":"2020-11-01T21:54:27.886037+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jag1 has been classified as Green List (High Evidence).","entity_name":"JAG1","entity_type":"gene"},{"created":"2020-11-01T21:54:19.607530+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAG1 was added\ngene: JAG1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: JAG1 were set to Alagille syndrome, MIM#  118450\nReview for gene: JAG1 was set to GREEN\nAdded comment: Well established gene disease association. Severity of liver disease is variable but includes progressive liver failure. \nSources: Expert list","entity_name":"JAG1","entity_type":"gene"},{"created":"2020-11-01T21:27:56.259646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTF1A as ready","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:27:56.251332+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptf1a has been classified as Green List (High Evidence).","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:27:49.084661+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTF1A were changed from  to Pancreatic agenesis 2, MIM# 615935; Pancreatic and cerebellar agenesis, MIM# 609069","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:27:31.050869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5225","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTF1A were set to ","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:27:11.724259+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5224","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:26:51.150778+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5223","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24212882, 21749365, 10507728, 15543146, 19650412; Phenotypes: Pancreatic agenesis 2, MIM# 615935, Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:23:45.405019+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTF1A as ready","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:23:45.394593+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptf1a has been classified as Red List (Low Evidence).","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:23:38.053855+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTF1A was added\ngene: PTF1A was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTF1A were set to 24212882\nPhenotypes for gene: PTF1A were set to Pancreatic agenesis 2, MIM#\t615935\nReview for gene: PTF1A was set to RED\nAdded comment: 14 affected individuals from 10 families with isolated pancreatic hypoplasia or agenesis reported. Patients were typically diagnosed with insulin-dependent diabetes mellitus at birth or in infancy, although 2 individuals were diagnosed at ages 8 and 10 years, respectively, and 1 at 22 years of age. All patients also had pancreatic exocrine insufficiency, with low or undetectable stool elastase in all who were tested. Pancreatic hypoplasia or agenesis was documented by ultrasound, CT, or MRI in the 9 patients studied. No neurologic features were reported, except for 1 patient who exhibited mild developmental delay, and no other abnormalities were reported, except for 1 patient who had fatal cholestatic liver failure \nSources: Expert list","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-11-01T21:20:51.762610+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FH as ready","entity_name":"FH","entity_type":"gene"},{"created":"2020-11-01T21:20:51.751952+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2020-11-01T21:20:48.901796+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FH were changed from  to Fumarase deficiency, MIM#606812","entity_name":"FH","entity_type":"gene"},{"created":"2020-11-01T21:20:40.053741+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FH as Green List (high evidence)","entity_name":"FH","entity_type":"gene"},{"created":"2020-11-01T21:20:40.042670+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2020-11-01T21:20:31.584838+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FH: Changed phenotypes: Fumarase deficiency, MIM#606812","entity_name":"FH","entity_type":"gene"},{"created":"2020-11-01T21:20:13.442098+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nReview for gene: FH was set to GREEN\nAdded comment: Autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy. Cholestasis, liver fibrosis and failure reported. \nSources: Expert list","entity_name":"FH","entity_type":"gene"},{"created":"2020-11-01T20:06:19.745354+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5223","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPP5 as ready","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T20:06:19.737162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpp5 has been classified as Green List (High Evidence).","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T20:06:09.277665+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5223","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPP5 as Green List (high evidence)","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T20:06:09.260218+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpp5 has been classified as Green List (High Evidence).","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T20:05:44.897944+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPP5 as ready","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T20:05:44.885732+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpp5 has been classified as Green List (High Evidence).","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T20:05:39.216440+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPP5 as Green List (high evidence)","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T20:05:39.209151+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpp5 has been classified as Green List (High Evidence).","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T18:45:35.181104+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5222","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: MPP5 was added\ngene: MPP5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MPP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MPP5 were set to 33073849\nPhenotypes for gene: MPP5 were set to Global developmental delay; Intellectual disability; Delayed speech and language development; Developmental regression; Behavioral abnormality\nPenetrance for gene: MPP5 were set to unknown\nReview for gene: MPP5 was set to GREEN\nAdded comment: Sterling et al (2020 - PMID: 33073849) provide information on the phenotype of 3 individuals  with de novo MPP5 variants.\r\n\r\nCommon features included global developmental delay, intellectual disability (3/3 - severe in 2/3), speech delay/regression (the latter in at least 2) and behavioral abnormalities. Variable other features were reported, among others microcephaly (1/3), abnormal vision (1/3 : CVI, retinal dystrophy, nystagmus), brain MRI abnormalities (2/3), late-onset seizures (1/3). These subjects displayed variable and non-specific dysmorphic features.\r\n\r\nAll were investigated by exome sequencing (previous investigations not mentioned).\r\n\r\nOne subject was found to harbor a de novo mosaic (5/25 reads) stopgain variant, further confirmed by Sanger sequencing [NM_022474.4:c.1555C>T - p.(Arg519Ter). The specific variant is reported once in gnomAD (1/251338). Two de novo missense variants were identified in the remaining individuals [c.1289A>G - p.Glu430Gly / c.974A>C - p.His325Pro). All variants had in silico predictions in favor of a deleterious effect (CADD score >24).\r\n\r\nThe authors comment that MPP5 encodes an apical complex protein with asymmetric localization to the apical side of polarized cells. It is expressed in brain, peripheral nervous system and other tissues. MPP5 is a member of the membrane-associated guanylate kinase family of proteins (MAGUK p55 subfamily), determining cell polarity at tight junctions.\r\n\r\nPrevious animal models suggest that complete Mpp5(Pals1) KO in mice leads to near absence of cerebral cortical neurons. Htz KO display reduction in size of cerebral cortex and hippocampus. The gene is expressed in proliferating cell populations of cerebellum and important for establishment cerebellar architecture. Conditional KO of Mpp5(Pals1) in retinal progenitor cells mimics the retinal pathology observed in LCA. [Several refs. provided]\r\n\r\nThe authors studied a heterozygous CNS-specific Mpp5 KO mouse model. These mice presented microcephaly, decreased cerebellar volume and cortical thickness, decreased ependymal cells and Mpp5 at the apical surface of cortical vertrical zone. The proportion of cortical cells undergoing apoptotic cell death was increased. Mice displayed behavioral abnormalities (hyperactivity) and visual deficits, with ERG traces further suggesting retinal blindness.\r\n\r\nOverall the mouse model was thought to recapitulate the behavioral abnormalities observed in affected subjects as well as individual rare features such as microcephaly and abnormal vision.\r\n\r\nHaploinsufficiency (rather than a dominant negative effect) is favored as the underlying disease mechanism. This is also in line with a dose dependent effect observed in mice. \nSources: Literature","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T18:45:30.822967+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3127","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: MPP5 was added\ngene: MPP5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MPP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MPP5 were set to 33073849\nPhenotypes for gene: MPP5 were set to Global developmental delay; Intellectual disability; Delayed speech and language development; Developmental regression; Behavioral abnormality\nPenetrance for gene: MPP5 were set to unknown\nReview for gene: MPP5 was set to GREEN\nAdded comment: Sterling et al (2020 - PMID: 33073849) provide information on the phenotype of 3 individuals  with de novo MPP5 variants.\r\n\r\nCommon features included global developmental delay, intellectual disability (3/3 - severe in 2/3), speech delay/regression (the latter in at least 2) and behavioral abnormalities. Variable other features were reported, among others microcephaly (1/3), abnormal vision (1/3 : CVI, retinal dystrophy, nystagmus), brain MRI abnormalities (2/3), late-onset seizures (1/3). These subjects displayed variable and non-specific dysmorphic features.\r\n\r\nAll were investigated by exome sequencing (previous investigations not mentioned).\r\n\r\nOne subject was found to harbor a de novo mosaic (5/25 reads) stopgain variant, further confirmed by Sanger sequencing [NM_022474.4:c.1555C>T - p.(Arg519Ter). The specific variant is reported once in gnomAD (1/251338). Two de novo missense variants were identified in the remaining individuals [c.1289A>G - p.Glu430Gly / c.974A>C - p.His325Pro). All variants had in silico predictions in favor of a deleterious effect (CADD score >24).\r\n\r\nThe authors comment that MPP5 encodes an apical complex protein with asymmetric localization to the apical side of polarized cells. It is expressed in brain, peripheral nervous system and other tissues. MPP5 is a member of the membrane-associated guanylate kinase family of proteins (MAGUK p55 subfamily), determining cell polarity at tight junctions.\r\n\r\nPrevious animal models suggest that complete Mpp5(Pals1) KO in mice leads to near absence of cerebral cortical neurons. Htz KO display reduction in size of cerebral cortex and hippocampus. The gene is expressed in proliferating cell populations of cerebellum and important for establishment cerebellar architecture. Conditional KO of Mpp5(Pals1) in retinal progenitor cells mimics the retinal pathology observed in LCA. [Several refs. provided]\r\n\r\nThe authors studied a heterozygous CNS-specific Mpp5 KO mouse model. These mice presented microcephaly, decreased cerebellar volume and cortical thickness, decreased ependymal cells and Mpp5 at the apical surface of cortical vertrical zone. The proportion of cortical cells undergoing apoptotic cell death was increased. Mice displayed behavioral abnormalities (hyperactivity) and visual deficits, with ERG traces further suggesting retinal blindness.\r\n\r\nOverall the mouse model was thought to recapitulate the behavioral abnormalities observed in affected subjects as well as individual rare features such as microcephaly and abnormal vision.\r\n\r\nHaploinsufficiency (rather than a dominant negative effect) is favored as the underlying disease mechanism. This is also in line with a dose dependent effect observed in mice. \nSources: Literature","entity_name":"MPP5","entity_type":"gene"},{"created":"2020-11-01T18:42:45.999221+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TALDO1 as ready","entity_name":"TALDO1","entity_type":"gene"},{"created":"2020-11-01T18:42:45.991671+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taldo1 has been classified as Green List (High Evidence).","entity_name":"TALDO1","entity_type":"gene"},{"created":"2020-11-01T18:42:42.520815+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TALDO1 as Green List (high evidence)","entity_name":"TALDO1","entity_type":"gene"},{"created":"2020-11-01T18:42:42.510228+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taldo1 has been classified as Green List (High Evidence).","entity_name":"TALDO1","entity_type":"gene"},{"created":"2020-11-01T18:42:35.021819+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TALDO1 was added\ngene: TALDO1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TALDO1 were set to 29923087; 23315216; 26238251; 18331807\nPhenotypes for gene: TALDO1 were set to Transaldolase deficiency, MIM#606003\nReview for gene: TALDO1 was set to GREEN\nAdded comment: Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure. More than 5 unrelated families reported. \nSources: Expert list","entity_name":"TALDO1","entity_type":"gene"},{"created":"2020-11-01T18:39:20.435202+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKR1D1 as ready","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:39:20.426442+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1d1 has been classified as Green List (High Evidence).","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:39:18.227661+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKR1D1 were changed from  to Bile acid synthesis defect, congenital, 2, MIM# 235555","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:38:50.680387+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKR1D1 were set to ","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:38:24.389437+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKR1D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:37:56.212489+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:37:18.708014+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKR1D1 as ready","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:37:18.699121+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1d1 has been classified as Green List (High Evidence).","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:37:11.725671+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKR1D1 were changed from  to Bile acid synthesis defect, congenital, 2, MIM# 235555","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:36:53.732237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5221","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKR1D1 were set to ","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:36:35.794400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5220","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKR1D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:36:19.059041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5219","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:35:20.682841+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKR1D1 were set to 12970144","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:35:11.351475+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AKR1D1: Changed publications: 12970144, 20522910; Changed phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:34:49.101137+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKR1D1 as ready","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:34:49.090411+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1d1 has been classified as Green List (High Evidence).","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:34:45.882472+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AKR1D1 as Green List (high evidence)","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:34:45.870114+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1d1 has been classified as Green List (High Evidence).","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:34:38.360382+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKR1D1 was added\ngene: AKR1D1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AKR1D1 were set to 12970144\nPhenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, MIM#\t235555\nReview for gene: AKR1D1 was set to GREEN\nAdded comment: Severe intrahepatic cholestasis progressing to liver failure. More than 3 unrelated families reported. \nSources: Expert list","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2020-11-01T18:27:21.409448+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A13 as ready","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2020-11-01T18:27:21.399048+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a13 has been classified as Green List (High Evidence).","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2020-11-01T18:27:07.354361+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A13 as Green List (high evidence)","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2020-11-01T18:27:07.346587+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a13 has been classified as Green List (High Evidence).","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2020-11-01T18:27:00.203657+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A13 was added\ngene: SLC25A13 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A13 were set to 21424115; 11343052\nPhenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, MIM#\t605814\nReview for gene: SLC25A13 was set to GREEN\nAdded comment: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most individuals show spontaneous improvement by 1 year of age. However, some individuals may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease.\r\n\r\nWell established gene-disease association. \nSources: Expert list","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2020-11-01T18:21:47.200403+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCYL1 as ready","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:21:47.192985+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scyl1 has been classified as Green List (High Evidence).","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:21:40.409733+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCYL1 were changed from  to Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:21:22.556685+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5218","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCYL1 were set to ","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:21:01.195176+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5217","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCYL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:20:32.570130+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5216","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:20:26.477978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5216","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SCYL1: Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur. More than 5 unrelated families reported.","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:19:45.181797+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCYL1 as ready","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:19:45.170677+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scyl1 has been classified as Green List (High Evidence).","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:19:41.423233+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCYL1 as Green List (high evidence)","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:19:41.412816+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scyl1 has been classified as Green List (High Evidence).","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:19:34.264282+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCYL1 was added\ngene: SCYL1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCYL1 were set to 26581903; 29419818; 30531813\nPhenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, MIM#616719\nReview for gene: SCYL1 was set to GREEN\nAdded comment: Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur.\r\n\r\nMore than 5 unrelated families reported. \nSources: Expert list","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-11-01T18:17:36.321728+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MARS as ready","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:17:36.309305+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mars has been classified as Green List (High Evidence).","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:16:53.047524+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MARS as Green List (high evidence)","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:16:53.036930+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mars has been classified as Green List (High Evidence).","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:16:25.689920+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MARS was added\ngene: MARS was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MARS were set to 24103465; 25913036\nPhenotypes for gene: MARS were set to Interstitial lung and liver disease, MIM#615486\nReview for gene: MARS was set to GREEN\nAdded comment: Autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.\r\n\r\nPathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis. \nSources: Expert list","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:14:31.030623+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MARS as ready","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:14:31.022558+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mars has been classified as Green List (High Evidence).","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:14:27.195807+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MARS as Green List (high evidence)","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:14:27.187885+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mars has been classified as Green List (High Evidence).","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:14:18.332830+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MARS was added\ngene: MARS was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MARS were set to 24103465; 25913036\nPhenotypes for gene: MARS were set to Interstitial lung and liver disease, MIM#615486\nReview for gene: MARS was set to GREEN\nAdded comment: Autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood.\r\n\r\nMore than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis. \nSources: Expert list","entity_name":"MARS","entity_type":"gene"},{"created":"2020-11-01T18:10:15.255218+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7B as ready","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-11-01T18:10:15.244358+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7b has been classified as Green List (High Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-11-01T18:10:12.066053+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP7B as Green List (high evidence)","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-11-01T18:10:12.052529+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7b has been classified as Green List (High Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-11-01T18:10:04.335445+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease, MIM#277900\nReview for gene: ATP7B was set to GREEN\nAdded comment: Well established gene-disease association. Can present with liver failure in childhood. \nSources: Expert list","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-11-01T18:07:04.285345+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC30A10 as ready","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:07:04.277098+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a10 has been classified as Green List (High Evidence).","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:07:00.921585+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC30A10 were changed from  to Hypermanganesemia with dystonia 1, MIM# 613280","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:06:38.662959+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC30A10 were set to ","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:06:10.217142+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:05:41.053299+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22341972, 22341971, 29193034; Phenotypes: Hypermanganesemia with dystonia 1, MIM# 613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:04:50.118963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC30A10 as ready","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:04:50.106679+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a10 has been classified as Green List (High Evidence).","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:04:42.697267+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5216","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC30A10 were changed from  to Hypermanganesemia with dystonia 1, MIM# 613280","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:04:25.068133+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5215","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC30A10 were set to ","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-11-01T18:04:07.456952+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5214","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC30A10","entity_type":"gene"}]}