{"count":221356,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1755","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1753","results":[{"created":"2020-06-30T18:37:16.061096+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3183","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH8","entity_type":"gene"},{"created":"2020-06-30T16:58:32.657014+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATP6V1A as ready","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-06-30T16:58:32.647046+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-06-30T16:58:29.501293+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP6V1A as Green List (high evidence)","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-06-30T16:58:29.490995+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-06-30T16:58:20.496925+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP6V1A was added\ngene: ATP6V1A was added to Cutis Laxa. Sources: Literature\nMode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1A were set to 28065471\nPhenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID MIM#617403\nReview for gene: ATP6V1A was set to GREEN\nAdded comment: 3 unrelated consanguineous families homozygous for 2 different missense variants (G72D, R338C), with supportive molecular analyses of patient cells. \nSources: Literature","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-06-30T16:39:45.692324+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATP6V1E1 as ready","entity_name":"ATP6V1E1","entity_type":"gene"},{"created":"2020-06-30T16:39:45.682723+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp6v1e1 has been classified as Green List (High Evidence).","entity_name":"ATP6V1E1","entity_type":"gene"},{"created":"2020-06-30T16:39:42.885909+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP6V1E1 as Green List (high evidence)","entity_name":"ATP6V1E1","entity_type":"gene"},{"created":"2020-06-30T16:39:42.872763+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp6v1e1 has been classified as Green List (High Evidence).","entity_name":"ATP6V1E1","entity_type":"gene"},{"created":"2020-06-30T16:39:29.576501+10:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP6V1E1 was added\ngene: ATP6V1E1 was added to Cutis Laxa. Sources: Expert list\nMode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1E1 were set to 28065471; 27023906\nPhenotypes for gene: ATP6V1E1 were set to Cutis laxa, autosomal recessive, type IIC MIM#617402\nReview for gene: ATP6V1E1 was set to GREEN\nAdded comment: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular anlayses of patient tissues was supportive. \nSources: Expert list","entity_name":"ATP6V1E1","entity_type":"gene"},{"created":"2020-06-30T12:49:56.479860+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3182","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: MYH8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28377322, 18049072, 17041932; Phenotypes: Trismus-pseudocamptodactyly syndrome MIM# 158300, Carney complex variant MIM# 608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"MYH8","entity_type":"gene"},{"created":"2020-06-30T11:58:02.857383+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"0.5","user_name":"Teresa Zhao","item_type":"entity","text":"changed review comment from: Loss of function is a well established mechanism. \r\n\r\nThis protein consists of paried domain (PD), which consists of N-terminal sub-domain (PAI domain), homeodomain (HD) and C-terminal sub-domain (RED domain) (PMID: 26899008).\r\n\r\nExon 5a of 14 additional aa is inserted into N-terminal sub-domain abolishes the DNA-binding ability of C-terminal sub-domain and functions as a molecular switch that selects and spedifies target genes (PMID: 20132240).\r\n\r\nPAX6 has two isoforms, a and b, they cooperatively act in the development of both the posterior and anterior segment of the eye by regulating different gens (PMID: 26899008).\r\nisoform a: induces KRT3 expression.\r\nisoform b: indluced KRT12 expression when combined with KLF4 and OCT4.; to: Loss of function is a well established mechanism. \r\n\r\nThis protein consists of paried domain (PD), which consists of N-terminal sub-domain (PAI domain), homeodomain (HD) and C-terminal sub-domain (RED domain) (PMID: 26899008).\r\n\r\nExon 5a of 14 additional aa is inserted into N-terminal sub-domain abolishes the DNA-binding ability of C-terminal sub-domain and functions as a molecular switch that selects and spedifies target genes (PMID: 20132240).\r\n\r\nPAX6 has two isoforms, a and b, they cooperatively act in the development of both the posterior and anterior segment of the eye by regulating different genes (PMID: 26899008).\r\nisoform a: induces KRT3 expression.\r\nisoform b: indluced KRT12 expression when combined with KLF4 and OCT4.","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-06-30T11:57:29.686993+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"0.5","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27081561, 20132240, 26899008; Phenotypes: ?Coloboma of optic nerve MIM# 120430, ?Coloboma, ocular MIM# 120200, ?Morning glory disc anomaly MIM# 120430, Aniridia MIM# 106210, Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293, Cataract with late-onset corneal dystrophy MIM# 106210, Foveal hypoplasia 1 MIM# 136520, Keratitis MIM# 148190, Optic nerve hypoplasia MIM# 165550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-06-30T03:23:07.945712+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3182","user_name":"sarah leigh","item_type":"entity","text":"reviewed gene: SKIV2L: Rating: AMBER; Mode of pathogenicity: None; Publications: 29334452; Phenotypes: Intellectual disability; Mode of inheritance: None","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2020-06-29T20:51:09.077238+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PFKM as ready","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:51:09.067141+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Some phenotypic overlap.","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:51:09.025104+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfkm has been classified as Amber List (Moderate Evidence).","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:50:56.399819+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PFKM as Amber List (moderate evidence)","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:50:56.390677+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfkm has been classified as Amber List (Moderate Evidence).","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:50:36.779120+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PFKM as ready","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:50:36.769002+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfkm has been classified as Green List (High Evidence).","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:50:33.213503+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PFKM were changed from  to Glycogen storage disease VII (MIM#232800)","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:50:00.929614+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PFKM were set to ","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:48:59.711087+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PFKM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-06-29T20:45:48.315452+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMK as ready","entity_name":"POMK","entity_type":"gene"},{"created":"2020-06-29T20:45:48.301612+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomk has been classified as Amber List (Moderate Evidence).","entity_name":"POMK","entity_type":"gene"},{"created":"2020-06-29T20:45:43.146629+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POMK were set to ","entity_name":"POMK","entity_type":"gene"},{"created":"2020-06-29T20:45:34.891525+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POMK as Amber List (moderate evidence)","entity_name":"POMK","entity_type":"gene"},{"created":"2020-06-29T20:45:34.877455+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomk has been classified as Amber List (Moderate Evidence).","entity_name":"POMK","entity_type":"gene"},{"created":"2020-06-29T20:44:40.386055+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAV3 as ready","entity_name":"CAV3","entity_type":"gene"},{"created":"2020-06-29T20:44:40.379715+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Phenotypic overlap.","entity_name":"CAV3","entity_type":"gene"},{"created":"2020-06-29T20:44:40.334865+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cav3 has been classified as Amber List (Moderate Evidence).","entity_name":"CAV3","entity_type":"gene"},{"created":"2020-06-29T20:44:30.569101+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAV3 as Amber List (moderate evidence)","entity_name":"CAV3","entity_type":"gene"},{"created":"2020-06-29T20:44:30.543266+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cav3 has been classified as Amber List (Moderate Evidence).","entity_name":"CAV3","entity_type":"gene"},{"created":"2020-06-29T20:42:55.490267+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYGM as ready","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-06-29T20:42:55.483912+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Phenotypic overlap.","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-06-29T20:42:55.438297+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pygm has been classified as Amber List (Moderate Evidence).","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-06-29T20:42:45.851338+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYGM as Amber List (moderate evidence)","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-06-29T20:42:45.839204+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pygm has been classified as Amber List (Moderate Evidence).","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-06-29T20:42:08.240525+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASQ1 as ready","entity_name":"CASQ1","entity_type":"gene"},{"created":"2020-06-29T20:42:08.235885+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Founder variant, but large number of affected individuals reported. Italian, rather than rare, isolated ethnicity.","entity_name":"CASQ1","entity_type":"gene"},{"created":"2020-06-29T20:42:08.203663+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casq1 has been classified as Green List (High Evidence).","entity_name":"CASQ1","entity_type":"gene"},{"created":"2020-06-29T20:41:25.060278+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASQ1 as Green List (high evidence)","entity_name":"CASQ1","entity_type":"gene"},{"created":"2020-06-29T20:41:25.046992+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casq1 has been classified as Green List (High Evidence).","entity_name":"CASQ1","entity_type":"gene"},{"created":"2020-06-29T20:41:17.720530+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CASQ1.","entity_name":"CASQ1","entity_type":"gene"},{"created":"2020-06-29T20:36:41.247047+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3182","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNB1 as ready","entity_name":"CACNB1","entity_type":"gene"},{"created":"2020-06-29T20:36:41.234884+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb1 has been classified as Red List (Low Evidence).","entity_name":"CACNB1","entity_type":"gene"},{"created":"2020-06-29T20:36:24.432361+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3182","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNB1 was added\ngene: CACNB1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CACNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNB1 were set to 27832566; 8943043; 29212769\nPhenotypes for gene: CACNB1 were set to Malignant hyperthermia susceptibility\nAdded comment: A single heterozygous case with a positive IVCT muscle biopsy has been reported with p.Val156Ala. The European non-Finnish allele frequency in gnomAD v2.1 is 0.001146 (148/129,118 alleles), which is higher than the expected population frequency for dominantly inherited malignant hyperthermia (0.1%). Additionally, functional assays of this variant, suggest it would only significantly affect function in the homozygous state (suggesting a recessive condition). \nSources: Expert list","entity_name":"CACNB1","entity_type":"gene"},{"created":"2020-06-29T20:32:14.340304+10:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNB1 as ready","entity_name":"CACNB1","entity_type":"gene"},{"created":"2020-06-29T20:32:14.330360+10:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb1 has been classified as Red List (Low Evidence).","entity_name":"CACNB1","entity_type":"gene"},{"created":"2020-06-29T20:29:45.004331+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PYROXD1 were set to 30515627","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2020-06-29T20:29:05.139857+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYROXD1 as ready","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2020-06-29T20:29:05.132964+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Mostly myopathy, some families reported with LGMD phenotype.","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2020-06-29T20:29:05.075624+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2020-06-29T20:28:41.381770+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYROXD1 as Amber List (moderate evidence)","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2020-06-29T20:28:41.369392+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2020-06-29T20:26:50.846824+10:00","panel_name":"Arrhythmogenic Right Ventricular Cardiomyopathy","panel_id":48,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BVES as ready","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:26:50.830467+10:00","panel_name":"Arrhythmogenic Right Ventricular Cardiomyopathy","panel_id":48,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bves has been classified as Amber List (Moderate Evidence).","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:26:47.378329+10:00","panel_name":"Arrhythmogenic Right Ventricular Cardiomyopathy","panel_id":48,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BVES were set to PMID: 26642364; 31119192","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:26:17.290896+10:00","panel_name":"Arrhythmogenic Right Ventricular Cardiomyopathy","panel_id":48,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BVES as Amber List (moderate evidence)","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:26:17.279370+10:00","panel_name":"Arrhythmogenic Right Ventricular Cardiomyopathy","panel_id":48,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bves has been classified as Amber List (Moderate Evidence).","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:25:32.308127+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BVES as ready","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:25:32.297702+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bves has been classified as Green List (High Evidence).","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:25:28.573774+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BVES were set to PMID: 26642364 32528171 31119192","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:25:22.029862+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BVES as Green List (high evidence)","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:25:22.009621+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bves has been classified as Green List (High Evidence).","entity_name":"BVES","entity_type":"gene"},{"created":"2020-06-29T20:21:07.853364+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAG3 as ready","entity_name":"BAG3","entity_type":"gene"},{"created":"2020-06-29T20:21:07.847936+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Phenotypic overlap.","entity_name":"BAG3","entity_type":"gene"},{"created":"2020-06-29T20:21:07.806546+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bag3 has been classified as Green List (High Evidence).","entity_name":"BAG3","entity_type":"gene"},{"created":"2020-06-29T20:20:56.724281+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BAG3 as Green List (high evidence)","entity_name":"BAG3","entity_type":"gene"},{"created":"2020-06-29T20:20:56.714760+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bag3 has been classified as Green List (High Evidence).","entity_name":"BAG3","entity_type":"gene"},{"created":"2020-06-29T20:20:16.625845+10:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP2A1 as ready","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2020-06-29T20:20:16.607432+10:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp2a1 has been classified as Green List (High Evidence).","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2020-06-29T20:19:50.527893+10:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ5 as ready","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2020-06-29T20:19:50.518110+10:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj5 has been classified as Red List (Low Evidence).","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2020-06-29T20:18:56.988331+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTA1 as ready","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-06-29T20:18:56.983809+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Phenotypic overlap.","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-06-29T20:18:56.950236+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta1 has been classified as Green List (High Evidence).","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-06-29T20:18:47.780767+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTA1 were set to PMID: 28606400; 25938801","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-06-29T20:18:41.055646+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA1 were changed from ?Myopathy, scapulohumeroperoneal\t616852 to Myopathy, scapulohumeroperoneal\t616852","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-06-29T20:18:15.034809+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACTA1 as Green List (high evidence)","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-06-29T20:18:15.011477+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta1 has been classified as Green List (High Evidence).","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-06-29T20:17:03.838772+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENON as ready","entity_name":"SELENON","entity_type":"gene"},{"created":"2020-06-29T20:17:03.827382+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenon has been classified as Green List (High Evidence).","entity_name":"SELENON","entity_type":"gene"},{"created":"2020-06-29T20:17:00.990667+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SELENON were changed from  to Muscular dystrophy, rigid spine, 1 (MIM#602771)","entity_name":"SELENON","entity_type":"gene"},{"created":"2020-06-29T20:16:36.905314+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SELENON were set to ","entity_name":"SELENON","entity_type":"gene"},{"created":"2020-06-29T20:16:13.780081+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SELENON","entity_type":"gene"},{"created":"2020-06-29T20:15:52.453934+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SELENON","entity_type":"gene"},{"created":"2020-06-29T20:15:31.314896+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SELENON","entity_type":"gene"},{"created":"2020-06-29T20:14:12.304819+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADVL as ready","entity_name":"ACADVL","entity_type":"gene"},{"created":"2020-06-29T20:14:12.300061+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Some phenotypic overlap in view of reports of raised CK, and some individuals having clinical diagnosis of LGMD.","entity_name":"ACADVL","entity_type":"gene"},{"created":"2020-06-29T20:14:12.267963+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadvl has been classified as Amber List (Moderate Evidence).","entity_name":"ACADVL","entity_type":"gene"},{"created":"2020-06-29T20:13:41.295640+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACADVL as Amber List (moderate evidence)","entity_name":"ACADVL","entity_type":"gene"},{"created":"2020-06-29T20:13:41.286366+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadvl has been classified as Amber List (Moderate Evidence).","entity_name":"ACADVL","entity_type":"gene"},{"created":"2020-06-29T20:11:48.419415+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, tubular aggregate, 1 (MIM#160565), Stormorken syndrome (MIM#185070); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STIM1","entity_type":"gene"},{"created":"2020-06-29T20:11:29.852516+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STIM1 as ready","entity_name":"STIM1","entity_type":"gene"},{"created":"2020-06-29T20:11:29.840697+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stim1 has been classified as Amber List (Moderate Evidence).","entity_name":"STIM1","entity_type":"gene"},{"created":"2020-06-29T20:10:27.868878+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STIM1 as Amber List (moderate evidence)","entity_name":"STIM1","entity_type":"gene"},{"created":"2020-06-29T20:10:27.855659+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stim1 has been classified as Amber List (Moderate Evidence).","entity_name":"STIM1","entity_type":"gene"}]}