{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1564","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1562","results":[{"created":"2020-10-01T09:49:15.762408+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.511","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo15a has been classified as Green List (High Evidence).","entity_name":"MYO15A","entity_type":"gene"},{"created":"2020-10-01T09:49:13.330505+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.511","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO15A were changed from  to Deafness, autosomal recessive 3, MIM# 600316","entity_name":"MYO15A","entity_type":"gene"},{"created":"2020-10-01T09:48:44.185631+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO15A were set to ","entity_name":"MYO15A","entity_type":"gene"},{"created":"2020-10-01T09:48:14.926179+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYO15A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO15A","entity_type":"gene"},{"created":"2020-10-01T09:47:47.178727+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.508","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27375115, 26226137, 23208854, 19309289, 9603735, 10915760; Phenotypes: Deafness, autosomal recessive 3, MIM# 600316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO15A","entity_type":"gene"},{"created":"2020-10-01T09:01:24.242719+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4693","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH9 as ready","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T09:01:24.231272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4693","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh9 has been classified as Green List (High Evidence).","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T09:01:16.960081+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH9 were changed from  to Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; MYH9-related disorders","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T09:00:56.087419+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4692","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH9 were set to ","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T09:00:31.050121+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4691","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T09:00:12.540605+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4690","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9390828, 24890873, 17146397, 25505834, 16630581, 16162639, 23976996, 21908426; Phenotypes: Deafness, autosomal dominant 17, MIM# 603622, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100, MYH9-related disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T08:58:46.670543+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.508","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH9 as ready","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T08:58:46.659374+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.508","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh9 has been classified as Green List (High Evidence).","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T08:58:43.387921+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.508","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH9 were changed from  to Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; MYH9-related disorders","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T08:58:24.872407+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH9 were set to ","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T08:57:50.665318+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T08:57:22.023136+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYH9: Changed phenotypes: Deafness, autosomal dominant 17, MIM# 603622, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100, MYH9-related disorders","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T08:56:56.753650+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9390828, 24890873, 17146397, 25505834, 16630581, 16162639, 23976996, 21908426; Phenotypes: Deafness, autosomal dominant 17, MIM# 603622, MYH9-related disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-10-01T08:50:15.180022+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MITF as ready","entity_name":"MITF","entity_type":"gene"},{"created":"2020-10-01T08:50:15.166491+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mitf has been classified as Green List (High Evidence).","entity_name":"MITF","entity_type":"gene"},{"created":"2020-10-01T08:49:28.711080+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MITF were changed from  to Waardenburg syndrome, type 2A, MIM# 193510","entity_name":"MITF","entity_type":"gene"},{"created":"2020-10-01T08:49:02.681098+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MITF were set to ","entity_name":"MITF","entity_type":"gene"},{"created":"2020-10-01T08:48:34.474668+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MITF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MITF","entity_type":"gene"},{"created":"2020-10-01T08:48:10.021134+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874167, 23512835, 27759048, 28356565, 9499424, 27349893; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MITF","entity_type":"gene"},{"created":"2020-10-01T08:45:27.271590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4690","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MARVELD2 as ready","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:45:27.257729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: marveld2 has been classified as Green List (High Evidence).","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:45:18.496562+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4690","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MARVELD2 were changed from  to Deafness, autosomal recessive 49, MIM# 610153","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:44:41.292213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4689","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MARVELD2 were set to ","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:44:22.196538+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4688","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MARVELD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:44:04.918717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4687","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MARVELD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186462, 18084694, 22903915, 27344577, 26677943, 23979167; Phenotypes: Deafness, autosomal recessive 49, MIM# 610153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:43:00.442357+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MARVELD2 as ready","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:43:00.432488+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: marveld2 has been classified as Green List (High Evidence).","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:42:58.101301+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MARVELD2 were changed from  to Deafness, autosomal recessive 49, MIM# 610153","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:42:24.283199+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.501","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MARVELD2 were set to ","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:42:01.175115+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.500","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MARVELD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T08:41:32.789767+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MARVELD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186462, 18084694, 22903915, 27344577, 26677943, 23979167; Phenotypes: Deafness, autosomal recessive 49, MIM# 610153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-10-01T06:36:03.310849+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL9 were set to 29114930; 20116044","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:35:36.885274+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL9 as Amber List (moderate evidence)","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:35:36.876677+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl9 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:35:13.883604+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPL9: Added comment: New publication, second individual reported with same c.-2+1G>C variant in the 5′UTR of RPL9, deleterious effect demonstrated, functional data, upgrade to Amber:\r\n\r\nPMID: 31799629 (2020) - Female infant diagnosed with Diamond-Blackfan anaemia carrying a de novo variant (c.-2+1G>C) in the 5′UTR of RPL9, predicted to affect the donor splice site of exon 1. Phenotypic overlap can be seen with the previously reported case with the same variant, including colitis, thumb anomaly, and microcephaly. Functional studies showed the variant impairs processing of pre-rRNA during ribosome biogenesis, stabilises TP53 and impairs the proliferation and differentiation of erythroid cells. Zebrafish models of RPL9 LoF recapitulate the anaemia phenotype.; Changed rating: AMBER; Changed publications: 29114930, 20116044, 31799629","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:34:56.703677+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL9 were set to 29114930; 20116044","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:34:32.613594+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL9 as Amber List (moderate evidence)","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:34:32.603147+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl9 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:34:04.548333+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPL9: Added comment: New publication, second individual reported with same c.-2+1G>C variant in the 5′UTR of RPL9, deleterious effect demonstrated, functional data, upgrade to Amber:\r\n\r\nPMID: 31799629 (2020) - Female infant diagnosed with Diamond-Blackfan anaemia carrying a de novo variant (c.-2+1G>C) in the 5′UTR of RPL9, predicted to affect the donor splice site of exon 1. Phenotypic overlap can be seen with the previously reported case with the same variant, including colitis, thumb anomaly, and microcephaly. Functional studies showed the variant impairs processing of pre-rRNA during ribosome biogenesis, stabilises TP53 and impairs the proliferation and differentiation of erythroid cells. Zebrafish models of RPL9 LoF recapitulate the anaemia phenotype.; Changed rating: AMBER; Changed publications: 29114930, 20116044, 31799629","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:31:44.127109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4687","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL9 as ready","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:31:44.122459+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4687","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Second individual reported with same c.-2+1G>C variant in the 5′UTR of RPL9, deleterious effect demonstrated, functional data, upgrade to Amber.","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:31:44.095442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4687","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl9 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:30:49.479638+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4687","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL9 were set to 29114930; 20116044","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:30:27.092747+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4686","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL9 as Amber List (moderate evidence)","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T06:30:27.082591+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4686","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl9 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T01:29:19.081209+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4685","user_name":"Arina Puzriakova","item_type":"entity","text":"changed review comment from: PMID: 31799629 (2020) - One individual diagnosed with Diamond Blackfan anaemia carrying a de novo variant (c.-2+1G>C) in the 5′UTR of RPL9, predicted to affect the donor splice site of exon 1. Functional studies showed the variant impairs processing of pre-rRNA during ribosome biogenesis, stabilises TP53 and impairs the proliferation and differentiation of erythroid cells. Zebrafish models of RPL9 LoF recapitulate the anaemia phenotype.; to: PMID: 31799629 (2020) - Female infant diagnosed with Diamond-Blackfan anaemia carrying a de novo variant (c.-2+1G>C) in the 5′UTR of RPL9, predicted to affect the donor splice site of exon 1. Phenotypic overlap can be seen with the previously reported case with the same variant, including colitis, thumb anomaly, and microcephaly. Functional studies showed the variant impairs processing of pre-rRNA during ribosome biogenesis, stabilises TP53 and impairs the proliferation and differentiation of erythroid cells. Zebrafish models of RPL9 LoF recapitulate the anaemia phenotype.","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-01T01:05:50.534910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4685","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: RPL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 31799629; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-09-30T20:27:02.030951+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4685","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRTOMT as ready","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:27:02.019012+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4685","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrtomt has been classified as Green List (High Evidence).","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:26:42.637822+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4685","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRTOMT were changed from  to Deafness, autosomal recessive 63, MIM# 611451","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:26:26.770637+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4684","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRTOMT were set to ","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:26:09.346934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4683","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRTOMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:25:50.856323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4682","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953341, 18794526, 21739586, 18794526; Phenotypes: Deafness, autosomal recessive 63, MIM# 611451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:25:01.472803+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRTOMT as ready","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:25:01.445194+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrtomt has been classified as Green List (High Evidence).","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:24:57.807479+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRTOMT were changed from  to Deafness, autosomal recessive 63, MIM# 611451","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:24:35.860715+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.498","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRTOMT were set to ","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:23:10.505886+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.497","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRTOMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:22:33.452555+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953341, 18794526, 21739586, 18794526; Phenotypes: Deafness, autosomal recessive 63, MIM# 611451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-09-30T20:20:07.300470+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHFPL5 as ready","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:20:07.283594+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhfpl5 has been classified as Green List (High Evidence).","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:20:00.345580+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4682","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHFPL5 as ready","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:20:00.336507+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4682","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhfpl5 has been classified as Green List (High Evidence).","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:19:53.257584+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4682","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHFPL5 were changed from  to Deafness, autosomal recessive 67, MIM# 610265","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:19:28.988707+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHFPL5 were changed from  to Deafness, autosomal recessive 67, MIM# 610265","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:19:27.752169+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4681","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHFPL5 were set to ","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:19:07.765368+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4680","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHFPL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:18:48.839439+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4679","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16459341, 16752389, 21816241, 19888295, 26437881, 26029705, 15905332, 19102128, 25550511; Phenotypes: Deafness, autosomal recessive 67, MIM# 610265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:18:41.507720+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.495","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHFPL5 were set to ","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:17:58.387522+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.494","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHFPL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:17:22.468323+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16459341, 16752389, 21816241, 19888295, 26437881, 26029705, 15905332, 19102128, 25550511; Phenotypes: Deafness, autosomal recessive 67, MIM# 610265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-09-30T20:14:57.463382+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ1 as ready","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-09-30T20:14:57.452585+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq1 has been classified as Green List (High Evidence).","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-09-30T20:14:53.794917+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNQ1 were changed from  to Jervell and Lange-Nielsen syndrome, MIM#\t220400","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-09-30T20:14:20.186669+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNQ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-09-30T20:13:54.786608+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome, MIM# 220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-09-30T20:01:31.883213+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PGM1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-09-30T20:00:51.129483+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM1 as ready","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T20:00:51.119633+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm1 has been removed from the panel.","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T20:00:17.868523+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM1 as ready","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T20:00:17.863465+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Severe cardiomyopathy can be a feature.","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T20:00:17.834125+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm1 has been classified as Green List (High Evidence).","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T19:59:57.152849+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM1 were changed from Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation to Congenital disorder of glycosylation, type It, MIM#\t614921; Dilated cardiomyopathy","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T19:59:25.111848+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T19:58:51.390158+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGM1 as Green List (high evidence)","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T19:58:51.381050+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm1 has been classified as Green List (High Evidence).","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T19:57:12.259494+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4679","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GYS1 as ready","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:57:12.250794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4679","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gys1 has been classified as Green List (High Evidence).","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:57:05.375974+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4679","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GYS1 were changed from  to Glycogen storage disease 0, muscle, MIM# 611556","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:56:46.152751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4678","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GYS1 were set to ","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:56:27.248597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4677","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GYS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:56:07.632943+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4676","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GYS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17928598, 19699667, 21958591; Phenotypes: Glycogen storage disease 0, muscle, MIM# 611556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:54:47.235885+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GYS1 as ready","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:54:47.226756+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gys1 has been classified as Green List (High Evidence).","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:54:44.812489+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GYS1 were changed from  to Glycogen storage disease 0, muscle, MIM#\t611556","entity_name":"GYS1","entity_type":"gene"}]}