{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1403","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1401","results":[{"created":"2021-02-23T09:30:54.436418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6421","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akap6 has been classified as Amber List (Moderate Evidence).","entity_name":"AKAP6","entity_type":"gene"},{"created":"2021-02-23T09:15:09.221950+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6420","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ASCC3 as ready","entity_name":"ASCC3","entity_type":"gene"},{"created":"2021-02-23T09:15:09.211873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6420","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ascc3 has been classified as Green List (High Evidence).","entity_name":"ASCC3","entity_type":"gene"},{"created":"2021-02-23T09:14:57.477095+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6420","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ASCC3 as Green List (high evidence)","entity_name":"ASCC3","entity_type":"gene"},{"created":"2021-02-23T09:14:57.466030+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6420","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ascc3 has been classified as Green List (High Evidence).","entity_name":"ASCC3","entity_type":"gene"},{"created":"2021-02-23T09:14:02.682890+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6419","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ASCC3 was added\ngene: ASCC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024\nPhenotypes for gene: ASCC3 were set to Neuromuscular syndrome; congenital myopathy\nReview for gene: ASCC3 was set to GREEN\nAdded comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue. \nSources: Literature","entity_name":"ASCC3","entity_type":"gene"},{"created":"2021-02-23T09:01:36.751049+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6418","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32232344; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"RDH5","entity_type":"gene"},{"created":"2021-02-22T20:27:59.222429+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HS2ST1 as ready","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:27:59.214152+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hs2st1 has been classified as Amber List (Moderate Evidence).","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:27:56.399868+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:27:19.833284+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HS2ST1: Changed phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194, Intellectual disability, dysmorphic features, congenital anomalies, arthrogryposis","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:27:06.766786+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HS2ST1 were changed from Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:26:52.823016+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:26:31.848142+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3461","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:25:54.880190+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3460","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:25:29.114549+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6418","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:25:05.733392+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6417","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2021-02-22T20:23:58.932730+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3460","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2021-02-22T20:23:21.650231+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3459","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2021-02-22T20:23:04.430184+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1022","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2021-02-22T20:22:31.434188+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1021","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2021-02-22T20:22:04.642946+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2021-02-22T20:21:43.129852+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6416","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2021-02-22T20:19:24.732088+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2021-02-22T20:18:44.126080+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features","entity_name":"UBR7","entity_type":"gene"},{"created":"2021-02-22T20:17:52.445156+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3459","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF292 were changed from Intellectual disability; autism; ADHD to Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; autism; ADHD","entity_name":"ZNF292","entity_type":"gene"},{"created":"2021-02-22T20:17:15.038024+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3458","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ZNF292","entity_type":"gene"},{"created":"2021-02-22T20:17:09.505361+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3458","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZNF292: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZNF292","entity_type":"gene"},{"created":"2021-02-22T20:16:39.310096+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6416","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF292 were changed from Intellectual disability; Autism; ADHD to Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; Autism; ADHD","entity_name":"ZNF292","entity_type":"gene"},{"created":"2021-02-22T20:16:11.397373+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6415","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZNF292: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 63, MIM# 619188, Intellectual disability, Autism, ADHD","entity_name":"ZNF292","entity_type":"gene"},{"created":"2021-02-22T17:58:37.086871+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:58:10.810684+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARSG as Green List (high evidence)","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:58:10.807289+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: 2 additional families reported, upgraded to green","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:58:10.787647+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arsg has been classified as Green List (High Evidence).","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:57:40.900057+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174, 29300381, 32455177, 26975023; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:55:51.031210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6415","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023; 32455177","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:55:28.647810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6414","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARSG as Green List (high evidence)","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:55:28.643414+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6414","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: 2 additional families reported, upgraded to green","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:55:28.623817+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6414","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arsg has been classified as Green List (High Evidence).","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T17:54:10.499259+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6413","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174, 29300381, 32455177, 26975023; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSG","entity_type":"gene"},{"created":"2021-02-22T08:17:47.965515+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3458","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNB2 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability to Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly; Global developmental delay; Intellectual disability","entity_name":"LMNB2","entity_type":"gene"},{"created":"2021-02-22T08:17:10.875395+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3457","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 27, primary, autosomal dominant, MIM# 619180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMNB2","entity_type":"gene"},{"created":"2021-02-22T08:16:42.775951+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNB2 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability to Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly; Global developmental delay; Intellectual disability","entity_name":"LMNB2","entity_type":"gene"},{"created":"2021-02-22T08:16:08.854877+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.522","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 27, primary, autosomal dominant, MIM# 619180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMNB2","entity_type":"gene"},{"created":"2021-02-22T08:15:44.649732+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6413","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNB2 were changed from {Lipodystrophy, partial, acquired, susceptibility to} 608709; Congenital microcephaly, Intellectual disability to {Lipodystrophy, partial, acquired, susceptibility to} 608709; Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly, Intellectual disability","entity_name":"LMNB2","entity_type":"gene"},{"created":"2021-02-22T08:15:15.991138+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6412","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMNB2: Changed phenotypes: {Lipodystrophy, partial, acquired, susceptibility to} 608709, Microcephaly 27, primary, autosomal dominant, MIM# 619180, Congenital microcephaly, Intellectual disability","entity_name":"LMNB2","entity_type":"gene"},{"created":"2021-02-22T08:14:21.198308+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: LMNB1.","entity_name":"LMNB1","entity_type":"gene"},{"created":"2021-02-22T08:13:10.559636+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3457","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNB1 were changed from Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500","entity_name":"LMNB1","entity_type":"gene"},{"created":"2021-02-22T08:12:03.067134+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.522","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNB1 were changed from Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis","entity_name":"LMNB1","entity_type":"gene"},{"created":"2021-02-22T08:11:26.885358+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.521","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMNB1: Changed phenotypes: Microcephaly 26, primary, autosomal dominant, MIM# 619179, Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis","entity_name":"LMNB1","entity_type":"gene"},{"created":"2021-02-22T08:11:06.351451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6412","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNB1 were changed from Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500","entity_name":"LMNB1","entity_type":"gene"},{"created":"2021-02-22T08:10:39.028793+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6411","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMNB1: Changed phenotypes: Microcephaly 26, primary, autosomal dominant, MIM# 619179, Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis, Leukodystrophy, adult-onset, autosomal dominant, MIM#169500","entity_name":"LMNB1","entity_type":"gene"},{"created":"2021-02-20T19:22:36.724089+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3456","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy","entity_name":"FGF13","entity_type":"gene"},{"created":"2021-02-20T19:22:01.976651+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3455","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy","entity_name":"FGF13","entity_type":"gene"},{"created":"2021-02-20T19:21:47.060567+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1021","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy","entity_name":"FGF13","entity_type":"gene"},{"created":"2021-02-20T19:21:14.515187+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy","entity_name":"FGF13","entity_type":"gene"},{"created":"2021-02-20T19:20:44.977611+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6411","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy","entity_name":"FGF13","entity_type":"gene"},{"created":"2021-02-20T19:20:16.755015+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6410","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy","entity_name":"FGF13","entity_type":"gene"},{"created":"2021-02-19T14:18:31.545291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6410","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRYM as ready","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T14:18:31.537638+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6410","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crym has been classified as Green List (High Evidence).","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T14:16:35.164322+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6410","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRYM were changed from  to Deafness, autosomal dominant 40 MIM#616357","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T14:16:15.562220+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6409","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRYM were set to ","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T14:15:53.009106+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6408","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T14:13:45.945774+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T14:12:54.789399+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CRYM as Green List (high evidence)","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T14:12:54.780799+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crym has been classified as Green List (High Evidence).","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T13:01:48.858017+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6407","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T12:57:57.562919+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.50","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CRYM","entity_type":"gene"},{"created":"2021-02-19T11:55:33.191537+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6407","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HARS as ready","entity_name":"HARS","entity_type":"gene"},{"created":"2021-02-19T11:55:33.182649+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hars has been classified as Green List (High Evidence).","entity_name":"HARS","entity_type":"gene"},{"created":"2021-02-19T11:55:25.279538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6407","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 to Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625; Usher syndrome type 3B MIM#614504; Multisystemic ataxic syndrome","entity_name":"HARS","entity_type":"gene"},{"created":"2021-02-19T11:55:04.342056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6406","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HARS were set to 26072516","entity_name":"HARS","entity_type":"gene"},{"created":"2021-02-19T11:54:41.814084+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6405","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"HARS","entity_type":"gene"},{"created":"2021-02-19T10:32:24.076141+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6404","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32333447, 32940403, 26072516; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625, Usher syndrome type 3B MIM#614504, Multisystemic ataxic syndrome; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"HARS","entity_type":"gene"},{"created":"2021-02-19T09:54:51.879175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6404","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFAP47 were changed from asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) to Spermatogenic failure, X-linked, 3, MIM# 301059; asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-19T09:54:24.519022+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6403","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFAP47: Changed phenotypes: Spermatogenic failure, X-linked, 3, MIM# 301059","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-19T09:04:23.503642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6403","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM#\t619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy","entity_name":"PSMG2","entity_type":"gene"},{"created":"2021-02-19T09:03:59.286465+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6402","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PSMG2: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 4, MIM# 619183, CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy","entity_name":"PSMG2","entity_type":"gene"},{"created":"2021-02-19T09:03:36.983780+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM#\t619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy","entity_name":"PSMG2","entity_type":"gene"},{"created":"2021-02-19T09:02:57.083676+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PSMG2: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 4, MIM# 619183, CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy","entity_name":"PSMG2","entity_type":"gene"},{"created":"2021-02-19T09:02:01.133173+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6402","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175","entity_name":"PSMB10","entity_type":"gene"},{"created":"2021-02-19T09:01:42.609255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6401","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175","entity_name":"PSMB10","entity_type":"gene"},{"created":"2021-02-19T09:01:15.708116+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175","entity_name":"PSMB10","entity_type":"gene"},{"created":"2021-02-19T09:00:34.314445+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175, Autoinflammatory syndrome","entity_name":"PSMB10","entity_type":"gene"},{"created":"2021-02-18T20:59:43.306607+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6401","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMVK as ready","entity_name":"PMVK","entity_type":"gene"},{"created":"2021-02-18T20:59:43.298233+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6401","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmvk has been classified as Green List (High Evidence).","entity_name":"PMVK","entity_type":"gene"},{"created":"2021-02-18T20:59:33.949749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6401","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMVK as Green List (high evidence)","entity_name":"PMVK","entity_type":"gene"},{"created":"2021-02-18T20:59:33.941838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6401","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmvk has been classified as Green List (High Evidence).","entity_name":"PMVK","entity_type":"gene"},{"created":"2021-02-18T20:59:16.715084+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6400","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMVK was added\ngene: PMVK was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PMVK were set to 26202976\nPhenotypes for gene: PMVK were set to Porokeratosis 1, multiple types, MIM# 175800\nReview for gene: PMVK was set to GREEN\nAdded comment: At least 9 individuals reported. \nSources: Expert Review","entity_name":"PMVK","entity_type":"gene"},{"created":"2021-02-18T20:45:43.566294+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-02-18T20:45:23.699150+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease; Tasmanian Clinical Genetics Service","entity_name":null,"entity_type":null},{"created":"2021-02-18T20:44:13.889605+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARD14 as ready","entity_name":"CARD14","entity_type":"gene"},{"created":"2021-02-18T20:44:13.881708+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: card14 has been classified as Red List (Low Evidence).","entity_name":"CARD14","entity_type":"gene"},{"created":"2021-02-18T20:44:11.938035+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CARD14 were changed from ILVEN (submitted 2 cases) to Inflammatory linear verrucous epidermal naevus","entity_name":"CARD14","entity_type":"gene"},{"created":"2021-02-18T20:43:53.770308+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Cannot find evidence for somatic mosaicism.; to: Unpublished data.","entity_name":"CARD14","entity_type":"gene"},{"created":"2021-02-18T20:43:40.261494+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CARD14: Changed phenotypes: Inflammatory linear verrucous epidermal naevus","entity_name":"CARD14","entity_type":"gene"},{"created":"2021-02-18T20:41:59.355798+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CARD14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pityriasis rubra pilaris, MIM# 173200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CARD14","entity_type":"gene"},{"created":"2021-02-18T20:41:01.885585+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TEK as ready","entity_name":"TEK","entity_type":"gene"},{"created":"2021-02-18T20:41:01.869441+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tek has been classified as Amber List (Moderate Evidence).","entity_name":"TEK","entity_type":"gene"},{"created":"2021-02-18T20:40:36.991707+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27519652; Phenotypes: Venous malformations, multiple cutaneous and mucosal, 600195; Mode of inheritance: None","entity_name":"TEK","entity_type":"gene"}]}