{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1922","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1920","results":[{"created":"2020-02-27T12:56:26.947192+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1448","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:56:08.944385+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1447","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEL as Amber List (moderate evidence)","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:56:08.930077+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1447","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cel has been classified as Amber List (Moderate Evidence).","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:55:50.124845+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEL: Rating: AMBER; Mode of pathogenicity: None; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:54:08.443375+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEL as ready","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:54:08.437309+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree, only frameshift mutations in the VNTR-containing exon 11 have evidence for pathogenicity.","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:54:08.389276+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cel has been classified as Amber List (Moderate Evidence).","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:53:26.937922+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEL as Amber List (moderate evidence)","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:53:26.928463+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cel has been classified as Amber List (Moderate Evidence).","entity_name":"CEL","entity_type":"gene"},{"created":"2020-02-27T12:48:50.658805+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:48:50.643326+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:48:41.897691+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGA were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:48:08.153190+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2221","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGA were set to ","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:47:32.466897+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2220","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:46:59.256651+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2219","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706016, 24259184, 29159939; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:45:28.151353+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:45:28.137891+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:45:23.106516+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGA were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:44:51.886315+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.615","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGA were set to ","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:44:27.459167+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-27T12:43:17.850055+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2219","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885617, 28556411, 28969387; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Hydrocephalus, congenital, 3, with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-27T12:42:03.542534+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR81 as ready","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-27T12:42:03.529363+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr81 has been classified as Green List (High Evidence).","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-27T12:41:50.908053+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR81 were changed from  to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Hydrocephalus, congenital, 3, with brain anomalies, 617967","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-27T12:41:27.114128+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1445","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WDR81 were set to ","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-27T12:41:10.281869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1444","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WDR81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-27T12:40:12.486136+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ETFA as Green List (high evidence)","entity_name":"ETFA","entity_type":"gene"},{"created":"2020-02-27T12:40:12.476935+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: etfa has been classified as Green List (High Evidence).","entity_name":"ETFA","entity_type":"gene"},{"created":"2020-02-27T12:39:53.739283+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ETFA as Green List (high evidence)","entity_name":"ETFA","entity_type":"gene"},{"created":"2020-02-27T12:39:53.720619+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: etfa has been classified as Green List (High Evidence).","entity_name":"ETFA","entity_type":"gene"},{"created":"2020-02-27T12:39:33.597640+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ETFB as Green List (high evidence)","entity_name":"ETFB","entity_type":"gene"},{"created":"2020-02-27T12:39:33.578881+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: etfb has been classified as Green List (High Evidence).","entity_name":"ETFB","entity_type":"gene"},{"created":"2020-02-27T12:38:52.331971+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ETFB was added\ngene: ETFB was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFB were set to 12815589; 7912128\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)\nReview for gene: ETFB was set to GREEN\nAdded comment: The enzyme encoded by this gene is required for electron transfer to the main respiratory chain in the mitochondria. >3 cases reported. Very similar phenotypes to ETFA and ETFDH. \nSources: Literature","entity_name":"ETFB","entity_type":"gene"},{"created":"2020-02-27T12:22:13.950486+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ETFA was added\ngene: ETFA was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFA were set to 1882842; 12815589\nPhenotypes for gene: ETFA were set to Glutaric acidemia IIA MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)\nReview for gene: ETFA was set to GREEN\nAdded comment: The enzyme encoded by this gene is required for electron transfer to the main respiratory chain. >3 cases reported. Very similar phenotypes to ETFB and ETFDH. \nSources: Literature","entity_name":"ETFA","entity_type":"gene"},{"created":"2020-02-27T12:16:46.937309+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1443","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARSG as ready","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T12:16:46.927600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1443","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsg has been classified as Red List (Low Evidence).","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T12:16:34.877996+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1443","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARSG was added\ngene: ARSG was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023\nPhenotypes for gene: ARSG were set to Usher syndrome, type IV, MIM# 618144\nReview for gene: ARSG was set to RED\nAdded comment: Atypical late-onset RP/HL phenotype described in 5 individuals from three Yemenite Jewish families. Same homozygous missense variant identified in all, founder effect. Animal models associated with neuronal ceroid lipofuscinosis. \nSources: Expert list","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T12:12:13.308444+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARSG as ready","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T12:12:13.299878+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsg has been classified as Red List (Low Evidence).","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T12:12:10.165128+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARSG were set to ","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T12:11:57.150575+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARSG as Red List (low evidence)","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T12:11:57.141540+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsg has been classified as Red List (Low Evidence).","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T12:11:48.685397+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARSG: Rating: RED; Mode of pathogenicity: None; Publications: 29300381, 20679209, 25452429, 26975023; Phenotypes: Usher syndrome, type IV, MIM# 618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSG","entity_type":"gene"},{"created":"2020-02-27T11:59:11.047373+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-27T11:54:48.503784+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ETFDH as Green List (high evidence)","entity_name":"ETFDH","entity_type":"gene"},{"created":"2020-02-27T11:54:48.490937+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: etfdh has been classified as Green List (High Evidence).","entity_name":"ETFDH","entity_type":"gene"},{"created":"2020-02-27T11:47:36.290447+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ETFDH was added\ngene: ETFDH was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFDH were set to 19249206; 17412732\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)\nReview for gene: ETFDH was set to GREEN\nAdded comment: This gene is required for electron transfer from mitochondrial flavin-containing dehydrogenases to the main respiratory chain. >3 cases reported. \nSources: Expert list","entity_name":"ETFDH","entity_type":"gene"},{"created":"2020-02-27T10:43:07.720579+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Usher Syndrome_RMH to Usher Syndrome\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-26T17:21:41.490019+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29987015, 24507776; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2020-02-26T17:17:44.397620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1442","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTOF as ready","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:17:44.383819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1442","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otof has been classified as Green List (High Evidence).","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:17:34.859220+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1442","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTOF were changed from  to Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071)","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:17:16.687726+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1441","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OTOF were set to ","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:16:20.119908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1440","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OTOF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:15:59.342717+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1439","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: 16371502, 22906306; Phenotypes: Auditory neuropathy, autosomal recessive, 1 (MIM # 601071), Deafness, autosomal recessive 9 (MIM # 601071); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:13:36.096482+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTOF as ready","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:13:36.083190+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otof has been classified as Green List (High Evidence).","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:13:31.694831+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTOF were changed from  to Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:12:30.122659+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OTOF were set to ","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:12:07.464794+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OTOF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-26T17:05:26.187644+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18345000, 24326104, 30051457; Phenotypes: Thrombocytopenia 4 MIM#612004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CYCS","entity_type":"gene"},{"created":"2020-02-26T16:49:55.199810+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COQ7 as Green List (high evidence)","entity_name":"COQ7","entity_type":"gene"},{"created":"2020-02-26T16:49:55.191337+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: coq7 has been classified as Green List (High Evidence).","entity_name":"COQ7","entity_type":"gene"},{"created":"2020-02-26T16:49:26.221278+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COQ7 was added\ngene: COQ7 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ7 were set to 31240163\nPhenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8 MIM#616733\nReview for gene: COQ7 was set to GREEN\nAdded comment: COQ7 encodes an enzyme that catalyses a critical step in CoQ10 biosynthesis. Three unrelated cases have been reported with this condition. \nSources: Expert list","entity_name":"COQ7","entity_type":"gene"},{"created":"2020-02-26T16:41:49.283435+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COA7 as Green List (high evidence)","entity_name":"COA7","entity_type":"gene"},{"created":"2020-02-26T16:41:49.270464+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: coa7 has been classified as Green List (High Evidence).","entity_name":"COA7","entity_type":"gene"},{"created":"2020-02-26T16:41:01.974260+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.92","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COA7 was added\ngene: COA7 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COA7 were set to 30885959; 29718187\nPhenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387\nReview for gene: COA7 was set to GREEN\nAdded comment: COA7 is involved in the assembly of mitochondrial complex IV, which is the terminal component of the mitochondrial respiratory chain. >3 unrelated cases have been reported with the neurological condition. \nSources: Expert list","entity_name":"COA7","entity_type":"gene"},{"created":"2020-02-26T15:54:05.813238+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.91","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP5E as Amber List (moderate evidence)","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-02-26T15:54:05.803843+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.91","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp5e has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-02-26T15:53:38.220424+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: 20566710, 27626380, 20026007; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-02-26T15:39:42.984719+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: APTX as Green List (high evidence)","entity_name":"APTX","entity_type":"gene"},{"created":"2020-02-26T15:39:42.976445+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aptx has been classified as Green List (High Evidence).","entity_name":"APTX","entity_type":"gene"},{"created":"2020-02-26T15:38:31.681150+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APTX was added\ngene: APTX was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APTX were set to 30986824; 26256098\nPhenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920\nReview for gene: APTX was set to GREEN\nAdded comment: APTX deficiency impairs mitochondrial function, demonstrated in multiple publications and experiments. This is a well-established ataxia gene. \nSources: Expert list","entity_name":"APTX","entity_type":"gene"},{"created":"2020-02-26T15:19:55.914083+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1439","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MYL1 as Amber List (moderate evidence)","entity_name":"MYL1","entity_type":"gene"},{"created":"2020-02-26T15:19:55.900893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1439","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myl1 has been classified as Amber List (Moderate Evidence).","entity_name":"MYL1","entity_type":"gene"},{"created":"2020-02-26T14:33:25.892764+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1438","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MYL1 was added\ngene: MYL1 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL1 were set to 30215711\nPhenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414\nReview for gene: MYL1 was set to AMBER\nAdded comment: Two probands with congenital myopathy and a zebrafish model. Probably need one more family to push it over the line. \nSources: NHS GMS","entity_name":"MYL1","entity_type":"gene"},{"created":"2020-02-26T13:14:40.979676+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CITED2 as ready","entity_name":"CITED2","entity_type":"gene"},{"created":"2020-02-26T13:14:40.975877+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Supportive animal model data.","entity_name":"CITED2","entity_type":"gene"},{"created":"2020-02-26T13:14:40.944615+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cited2 has been classified as Green List (High Evidence).","entity_name":"CITED2","entity_type":"gene"},{"created":"2020-02-26T13:14:19.161142+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CITED2 were changed from  to Atrial septal defect 8, 614433; Ventricular septal defect 2, 614431","entity_name":"CITED2","entity_type":"gene"},{"created":"2020-02-26T13:14:00.073536+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CITED2 were set to ","entity_name":"CITED2","entity_type":"gene"},{"created":"2020-02-26T13:13:41.160816+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CITED2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CITED2","entity_type":"gene"},{"created":"2020-02-26T12:53:15.826766+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1437","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FXR1 as Green List (high evidence)","entity_name":"FXR1","entity_type":"gene"},{"created":"2020-02-26T12:53:15.822703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1437","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Only two families, but a lot of functional supporting evidence including a mouse model. Pathogenic variants likely to be found in exon 15 of the skeletal muscle isoform, specifically.","entity_name":"FXR1","entity_type":"gene"},{"created":"2020-02-26T12:53:15.801995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1437","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fxr1 has been classified as Green List (High Evidence).","entity_name":"FXR1","entity_type":"gene"},{"created":"2020-02-26T12:46:29.912833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1436","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FXR1 was added\ngene: FXR1 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FXR1 were set to 30770808\nPhenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy\nReview for gene: FXR1 was set to GREEN\nAdded comment: Two unrelated families and a mouse model with non-lethal myopathy phenotype. \nSources: NHS GMS","entity_name":"FXR1","entity_type":"gene"},{"created":"2020-02-26T10:35:37.387443+11:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TYMP as Red List (low evidence)","entity_name":"TYMP","entity_type":"gene"},{"created":"2020-02-26T10:35:37.374465+11:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tymp has been classified as Red List (Low Evidence).","entity_name":"TYMP","entity_type":"gene"},{"created":"2020-02-26T10:34:57.312789+11:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PHKB as Red List (low evidence)","entity_name":"PHKB","entity_type":"gene"},{"created":"2020-02-26T10:34:57.300209+11:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: phkb has been classified as Red List (Low Evidence).","entity_name":"PHKB","entity_type":"gene"},{"created":"2020-02-26T10:34:28.573200+11:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Rhabdomyolysis_RMH to Rhabdomyolysis RMH\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-26T10:08:12.208000+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.313","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21786053, 17551081; Phenotypes: Deafness, autosomal recessive 8/10, MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMPRSS3","entity_type":"gene"},{"created":"2020-02-25T17:11:00.655599+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.313","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9529365, 14985372, 19941053, 11354642; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB2","entity_type":"gene"},{"created":"2020-02-25T13:50:31.752105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1435","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: POU3F4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31786483, 30176854; Phenotypes: Deafness, X-linked 2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"POU3F4","entity_type":"gene"},{"created":"2020-02-25T11:52:57.355753+11:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DPM3 as Green List (high evidence)","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-02-25T11:52:57.342881+11:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dpm3 has been classified as Green List (High Evidence).","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-02-25T11:52:48.762542+11:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DPM3 was added\ngene: DPM3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review\nMode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPM3 were set to 19576565; 28803818; 31266720\nPhenotypes for gene: DPM3 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15\tMIM#612937\nReview for gene: DPM3 was set to GREEN\nAdded comment: >3 cases with limb girdle muscular dystrophy, adult onset reported. \nSources: Expert Review","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-02-25T10:59:10.375412+11:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Limb Girdle Muscular Dystrophy_RMH to Limb Girdle Muscular Dystrophy\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-25T09:41:27.331798+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.17","user_name":"Tegan French","item_type":"entity","text":"reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 30232381; Phenotypes: Congenital heart defects, multiple types, 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLT4","entity_type":"gene"},{"created":"2020-02-25T08:49:20.513366+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.3","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CEL: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: None","entity_name":"CEL","entity_type":"gene"}]}