{"count":220771,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=987","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=985","results":[{"created":"2022-02-18T16:02:43.370775+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to ","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:02:34.356075+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA11 as Amber List (moderate evidence)","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:02:34.346226+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:02:26.305465+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:01:28.740738+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA11 as ready","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:01:28.729896+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:01:25.740185+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:01:03.636551+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA11 were changed from  to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:00:42.223853+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to 18306244; 31074871","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:00:21.502990+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to ","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:59:10.263397+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:34:01.603584+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA11 as Red List (low evidence)","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:34:01.591255+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:33:31.630760+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:32:28.134226+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA11 as ready","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:32:28.124509+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:32:17.430605+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA11 were changed from  to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:31:47.185315+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.360","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to ","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:31:13.307305+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:30:45.416654+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.358","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA11 as Red List (low evidence)","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:30:45.405446+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.358","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:30:16.455817+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:27:52.550081+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.698","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA11 as ready","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:27:52.537427+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.698","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:27:49.161951+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.698","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA11 were changed from  to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:26:58.362177+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.697","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to ","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:26:17.239828+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.696","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:25:40.461440+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.695","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA11 as Amber List (moderate evidence)","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:25:40.450254+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.695","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:25:02.275260+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.694","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:24:10.690912+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11003","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA11 as ready","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:24:10.678179+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11003","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:23:50.837983+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11003","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA11 were changed from  to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:23:27.933079+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11002","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to ","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:23:07.511350+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11001","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:22:41.985522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11000","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA11 as Amber List (moderate evidence)","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:22:41.974541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11000","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:22:23.449279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10999","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T12:49:38.185457+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10999","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TBK1: Rating: RED; Mode of pathogenicity: None; Publications: 25803835, 26581300; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MIM#616439), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-02-18T09:27:11.797306+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3685","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2A as ready","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-02-18T09:27:11.779200+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3685","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2a has been classified as Red List (Low Evidence).","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-02-18T09:27:06.530689+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3685","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2A were changed from EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; LANDAU-KLEFFNER SYNDROME to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-02-18T09:25:37.106260+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3684","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2A were set to ","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-02-18T09:25:25.937845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3683","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GRIN2A was changed from  to Other","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-02-18T09:25:06.802891+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3682","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-02-18T09:24:53.757001+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3681","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Large cohort of 248 individuals reported in PMID: 30544257: The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe developmental and epileptic encephalopathy, often within the epilepsy-aphasia spectrum. Pathogenic missense variants in transmembrane and linker domains (misTMD+Linker) were associated with severe developmental phenotypes, whereas missense variants within amino terminal or ligand-binding domains (misATD+LBD) and null variants led to less severe developmental phenotypes. Other phenotypes such as MRI abnormalities and epilepsy types were also significantly different between the two groups. Notably, this was paralleled by electrophysiology data, where misTMD+Linker predominantly led to NMDAR gain-of-function, while misATD+LBD exclusively caused NMDAR loss-of-function.; to: Large cohort of 248 individuals reported in PMID: 30544257: The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe developmental and epileptic encephalopathy, often within the epilepsy-aphasia spectrum. Pathogenic missense variants in transmembrane and linker domains (misTMD+Linker) were associated with severe developmental phenotypes, whereas missense variants within amino terminal or ligand-binding domains (misATD+LBD) and null variants led to less severe developmental phenotypes. Other phenotypes such as MRI abnormalities and epilepsy types were also significantly different between the two groups. Notably, this was paralleled by electrophysiology data, where misTMD+Linker predominantly led to NMDAR gain-of-function, while misATD+LBD exclusively caused NMDAR loss-of-function.\r\n\r\nClinical presentation is typically postnatal.","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-02-18T09:24:38.922997+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3681","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIN2A: Changed rating: RED","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-02-18T09:00:42.866957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3681","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIK2 as ready","entity_name":"GRIK2","entity_type":"gene"},{"created":"2022-02-18T09:00:42.849128+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3681","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grik2 has been classified as Amber List (Moderate Evidence).","entity_name":"GRIK2","entity_type":"gene"},{"created":"2022-02-18T09:00:34.137499+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3681","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIK2 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 to Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580","entity_name":"GRIK2","entity_type":"gene"},{"created":"2022-02-18T09:00:20.047084+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3680","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIK2 were set to ","entity_name":"GRIK2","entity_type":"gene"},{"created":"2022-02-18T09:00:06.308389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3679","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIK2","entity_type":"gene"},{"created":"2022-02-18T08:59:50.351832+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3678","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRIK2 as Amber List (moderate evidence)","entity_name":"GRIK2","entity_type":"gene"},{"created":"2022-02-18T08:59:50.341828+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3678","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grik2 has been classified as Amber List (Moderate Evidence).","entity_name":"GRIK2","entity_type":"gene"},{"created":"2022-02-18T08:59:37.730565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3677","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIK2","entity_type":"gene"},{"created":"2022-02-18T08:51:51.438519+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3677","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIA3 as ready","entity_name":"GRIA3","entity_type":"gene"},{"created":"2022-02-18T08:51:51.425142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3677","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria3 has been classified as Amber List (Moderate Evidence).","entity_name":"GRIA3","entity_type":"gene"},{"created":"2022-02-18T08:51:46.843550+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3677","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIA3 were changed from MENTAL RETARDATION X-LINKED TYPE 94 to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)","entity_name":"GRIA3","entity_type":"gene"},{"created":"2022-02-18T08:51:31.835380+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3676","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIA3 were set to ","entity_name":"GRIA3","entity_type":"gene"},{"created":"2022-02-18T08:51:19.185814+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3675","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRIA3 as Amber List (moderate evidence)","entity_name":"GRIA3","entity_type":"gene"},{"created":"2022-02-18T08:51:19.175361+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3675","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria3 has been classified as Amber List (Moderate Evidence).","entity_name":"GRIA3","entity_type":"gene"},{"created":"2022-02-18T08:51:06.137047+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3674","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GRIA3","entity_type":"gene"},{"created":"2022-02-18T08:48:09.746789+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3674","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GMPPA as ready","entity_name":"GMPPA","entity_type":"gene"},{"created":"2022-02-18T08:48:09.736574+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3674","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gmppa has been classified as Red List (Low Evidence).","entity_name":"GMPPA","entity_type":"gene"},{"created":"2022-02-18T08:48:03.766876+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3674","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GMPPA were changed from GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)","entity_name":"GMPPA","entity_type":"gene"},{"created":"2022-02-18T08:47:50.017721+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3673","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GMPPA were set to ","entity_name":"GMPPA","entity_type":"gene"},{"created":"2022-02-18T08:47:33.950212+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3672","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GMPPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alacrima, achalasia, and mental retardation syndrome (MIM# 615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPA","entity_type":"gene"},{"created":"2022-02-18T08:44:52.121679+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3672","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLUD1 as ready","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-02-18T08:44:52.110142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3672","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glud1 has been classified as Red List (Low Evidence).","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-02-18T08:44:48.078266+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3672","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLUD1 were changed from HYPERINSULINISM-HYPERAMMONEMIA SYNDROME to Hyperinsulinism-hyperammonemia syndrome, MIM#606762","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-02-18T08:44:34.426645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3671","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLUD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-02-18T08:44:21.159946+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3670","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is not typically a feature.; to: Clinical presentation is typically postnatal.","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-02-18T08:43:15.846717+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3670","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GHR as ready","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:43:15.820030+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3670","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ghr has been classified as Green List (High Evidence).","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:43:11.858569+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3670","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GHR were changed from PITUITARY DWARFISM II to Growth hormone insensitivity, partial, MIM#604271; Laron dwarfism, MIM#262500","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:43:00.254143+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3669","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GHR were set to ","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:42:49.236870+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3668","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:42:38.499618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3667","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GHR as Green List (high evidence)","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:42:38.488457+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3667","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ghr has been classified as Green List (High Evidence).","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:42:25.328551+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3666","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:42:21.364311+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3666","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GHR: Added comment: Birth weight and length are significantly decreased in the more severe, bi-allelic disorder (Laron).; Changed rating: GREEN; Changed publications: 9360502","entity_name":"GHR","entity_type":"gene"},{"created":"2022-02-18T08:37:10.807446+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3666","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF2 as ready","entity_name":"GDF2","entity_type":"gene"},{"created":"2022-02-18T08:37:10.794459+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3666","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf2 has been classified as Red List (Low Evidence).","entity_name":"GDF2","entity_type":"gene"},{"created":"2022-02-18T08:36:11.290289+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3666","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDOST as ready","entity_name":"DDOST","entity_type":"gene"},{"created":"2022-02-18T08:36:11.278016+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3666","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddost has been classified as Red List (Low Evidence).","entity_name":"DDOST","entity_type":"gene"},{"created":"2022-02-18T08:36:07.253327+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3666","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDOST were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR to Congenital disorder of glycosylation, type Ir, MIM# 614507","entity_name":"DDOST","entity_type":"gene"},{"created":"2022-02-18T08:35:54.295317+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3665","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDOST were set to ","entity_name":"DDOST","entity_type":"gene"},{"created":"2022-02-18T08:35:17.598203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3664","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DDOST: Changed rating: RED","entity_name":"DDOST","entity_type":"gene"},{"created":"2022-02-18T08:34:23.209753+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3664","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSTB as ready","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-02-18T08:34:23.188815+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3664","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cstb has been classified as Red List (Low Evidence).","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-02-18T08:34:17.897569+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3664","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSTB were changed from UNVERRICHT-LUNDBORG DISEASE to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-02-18T08:34:05.149193+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3663","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSTB were set to ","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-02-18T08:33:49.075505+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3662","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Not appropriate for the ID panel.; to: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Not appropriate for the Fetal Anomalies panel.","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-02-18T08:33:12.751574+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3662","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COX6B1 as ready","entity_name":"COX6B1","entity_type":"gene"},{"created":"2022-02-18T08:33:12.737455+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3662","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Red List (Low Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2022-02-17T20:16:52.225889+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3662","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATM as ready","entity_name":"GATM","entity_type":"gene"},{"created":"2022-02-17T20:16:52.205147+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3662","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gatm has been classified as Red List (Low Evidence).","entity_name":"GATM","entity_type":"gene"},{"created":"2022-02-17T20:16:48.572504+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3662","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATM were changed from ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY to Cerebral creatine deficiency syndrome 3, MIM# 612718","entity_name":"GATM","entity_type":"gene"},{"created":"2022-02-17T20:16:35.399352+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3661","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATM were set to ","entity_name":"GATM","entity_type":"gene"},{"created":"2022-02-17T20:16:15.372757+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3660","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-allelic variants cause a disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. At least four unrelated families reported.; to: Bi-allelic variants cause a disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. At least four unrelated families reported.\r\n\r\nClinical presentation is typically post-natal.","entity_name":"GATM","entity_type":"gene"}]}