{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1764","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1762","results":[{"created":"2020-06-21T15:29:11.553219+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc17a5 has been classified as Green List (High Evidence).","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2020-06-21T15:29:06.989894+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC17A5 as Green List (high evidence)","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2020-06-21T15:29:06.973147+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc17a5 has been classified as Green List (High Evidence).","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2020-06-21T15:28:57.409837+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC17A5 was added\ngene: SLC17A5 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC17A5 were set to 16417876\nPhenotypes for gene: SLC17A5 were set to Salla disease\t604369; Sialic acid storage disorder, infantile\t269920\nReview for gene: SLC17A5 was set to GREEN\nAdded comment: White matter abnormalities described in this metabolic disorder. \nSources: Expert list","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2020-06-21T15:23:54.495437+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPG11 were set to ","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-06-21T15:22:45.997376+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Complex SPG with central involvement, including white matter changes. \nSources: Expert list; to: Complex SPG with central involvement, including white matter changes. Variable age of onset, including in childhood.\r\nSources: Expert list","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-06-21T15:22:28.996081+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPG11: Changed publications: 18067136; Changed phenotypes: Spastic paraplegia 11, autosomal recessive, MIM# 604360","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-06-21T15:20:32.471886+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPG11 as ready","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-06-21T15:20:32.462385+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spg11 has been classified as Green List (High Evidence).","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-06-21T15:20:26.183861+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPG11 as Green List (high evidence)","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-06-21T15:20:26.172671+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spg11 has been classified as Green List (High Evidence).","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-06-21T15:20:17.470601+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPG11 was added\ngene: SPG11 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#\t604360\nReview for gene: SPG11 was set to GREEN\nAdded comment: Complex SPG with central involvement, including white matter changes. \nSources: Expert list","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-06-20T18:02:33.835427+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TREX1 as ready","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-06-20T18:02:33.818212+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-06-20T18:02:29.601684+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TREX1 as Green List (high evidence)","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-06-20T18:02:29.590235+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-06-20T18:02:20.785057+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TREX1 was added\ngene: TREX1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM#\t225750\nReview for gene: TREX1 was set to GREEN\nAdded comment: White matter changes are part of the phenotype. Onset is typically in infancy/childhood but can be variable. \nSources: Expert list","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-06-20T17:58:57.575917+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB4A as ready","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-20T17:58:57.555369+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb4a has been classified as Green List (High Evidence).","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-20T17:58:53.483748+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBB4A as Green List (high evidence)","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-20T17:58:53.474360+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb4a has been classified as Green List (High Evidence).","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-20T17:58:45.168859+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB4A was added\ngene: TUBB4A was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB4A were set to 24850488; 23582646\nPhenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, MIM#\t612438\nReview for gene: TUBB4A was set to GREEN\nAdded comment: Multiple individuals reported, onset of symptoms is typically in infancy and early childhood. \nSources: Expert list","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-20T17:53:40.450923+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFYVE26 as ready","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-06-20T17:53:40.439343+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve26 has been classified as Green List (High Evidence).","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-06-20T17:53:35.932337+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFYVE26 as Green List (high evidence)","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-06-20T17:53:35.921621+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve26 has been classified as Green List (High Evidence).","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-06-20T17:53:26.225063+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, MIM# 270700\nReview for gene: ZFYVE26 was set to GREEN\nAdded comment: Complex spastic paraplegia, including white matter changes. Variable age of onset ranging from paediatric to adult. \nSources: Expert list","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-06-20T17:47:25.426986+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAP as ready","entity_name":"PSAP","entity_type":"gene"},{"created":"2020-06-20T17:47:25.417721+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psap has been classified as Green List (High Evidence).","entity_name":"PSAP","entity_type":"gene"},{"created":"2020-06-20T17:47:04.863813+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSAP as Green List (high evidence)","entity_name":"PSAP","entity_type":"gene"},{"created":"2020-06-20T17:47:04.854473+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psap has been classified as Green List (High Evidence).","entity_name":"PSAP","entity_type":"gene"},{"created":"2020-06-20T17:46:55.389822+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSAP was added\ngene: PSAP was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, MIM#\t249900\nReview for gene: PSAP was set to GREEN\nAdded comment: Childhood onset. \nSources: Expert list","entity_name":"PSAP","entity_type":"gene"},{"created":"2020-06-20T17:41:31.276406+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR3B as ready","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-06-20T17:41:31.264552+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-06-20T17:41:27.039560+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR3B as Green List (high evidence)","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-06-20T17:41:27.023837+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-06-20T17:41:17.685978+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR3B was added\ngene: POLR3B was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3B were set to 27512013; 22036171; 22036172\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#\t614381\nReview for gene: POLR3B was set to GREEN\nAdded comment: More than 10 families reported. Early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. \nSources: Expert list","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-06-20T17:36:55.025725+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR3A as ready","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-06-20T17:36:55.007236+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3a has been classified as Green List (High Evidence).","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-06-20T17:36:50.522477+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR3A as Green List (high evidence)","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-06-20T17:36:50.513628+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3a has been classified as Green List (High Evidence).","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-06-20T17:36:41.481527+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR3A was added\ngene: POLR3A was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3A were set to 21855841\nPhenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#\t607694\nReview for gene: POLR3A was set to GREEN\nAdded comment: More than 10 families reported. Neurodegenerative disorder characterised by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. \nSources: Expert list","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-06-20T17:29:38.187736+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLR1C were set to 26151409","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-06-20T17:29:26.443986+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLR1C: Changed publications: 26151409, 32042905; Changed phenotypes: Leukodystrophy, hypomyelinating, 11, MIM# 616494","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-06-20T17:26:38.204450+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR1C as ready","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-06-20T17:26:38.156033+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1c has been classified as Green List (High Evidence).","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-06-20T17:26:33.365746+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR1C as Green List (high evidence)","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-06-20T17:26:33.356287+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1c has been classified as Green List (High Evidence).","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-06-20T17:26:24.838799+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR1C was added\ngene: POLR1C was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR1C were set to 26151409\nPhenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11, MIM#\t616494\nReview for gene: POLR1C was set to GREEN\nAdded comment: Over 20 individuals reported. \nSources: Expert list","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-06-20T17:15:01.031293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD1 as ready","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:15:01.019175+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd1 has been classified as Red List (Low Evidence).","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:14:53.562793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD1 were changed from  to Hypertrophic cardiomyopathy; Dilated cardiomyopathy","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:14:33.996930+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3139","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKRD1 were set to ","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:14:13.333423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3138","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANKRD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:13:54.202137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3137","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANKRD1 as Red List (low evidence)","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:13:54.193648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd1 has been classified as Red List (Low Evidence).","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:13:35.757432+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3136","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: None; Publications: 19608030, 19525294, 30681346; Phenotypes: Hypertrophic cardiomyopathy, Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:12:00.811628+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD1 were changed from  to Dilated cardiomyopathy","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:11:33.122517+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKRD1 were set to ","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:11:04.155598+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANKRD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:10:31.402210+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three missense variants, P105S, V107L, and M184I reported in 4 individuals in PMID: 19608030. However, note that P105S is present in 45 individuals in gnomad, and V107L in >200. Another 5 missense variants reported in PMID: 19525294. Of these, p.Thr116Met is present in 41 individuals in gnomad, p.Ala276Val in 745 individuals (and 6 homozygotes), p.Glu57Gln is present once, p.Arg66Gln is absent but an alternative change at same residue is present in >300, and p.Leu199Arg is absent. Overall, the population frequency of most of these variants is out of keeping for a Mendelian disorder.; to: DCM: Three missense variants, P105S, V107L, and M184I reported in 4 individuals in PMID: 19608030. However, note that P105S is present in 45 individuals in gnomad, and V107L in >200. Another 5 missense variants reported in PMID: 19525294. Of these, p.Thr116Met is present in 41 individuals in gnomad, p.Ala276Val in 745 individuals (and 6 homozygotes), p.Glu57Gln is present once, p.Arg66Gln is absent but an alternative change at same residue is present in >300, and p.Leu199Arg is absent. Overall, the population frequency of most of these variants is out of keeping for a Mendelian disorder.","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T17:10:18.419334+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ANKRD1: Added comment: Three missense variants, P105S, V107L, and M184I reported in 4 individuals in PMID: 19608030. However, note that P105S is present in 45 individuals in gnomad, and V107L in >200. Another 5 missense variants reported in PMID: 19525294. Of these, p.Thr116Met is present in 41 individuals in gnomad, p.Ala276Val in 745 individuals (and 6 homozygotes), p.Glu57Gln is present once, p.Arg66Gln is absent but an alternative change at same residue is present in >300, and p.Leu199Arg is absent. Overall, the population frequency of most of these variants is out of keeping for a Mendelian disorder.; Changed publications: 19608030, 19525294; Changed phenotypes: Dilated cardiomyopathy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T16:47:36.090040+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD1 as ready","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T16:47:36.075661+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd1 has been classified as Red List (Low Evidence).","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T16:47:30.917039+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANKRD1 as Red List (low evidence)","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T16:47:30.907567+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd1 has been classified as Red List (Low Evidence).","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T16:47:02.291065+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-06-20T16:40:51.730070+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNT2 as ready","entity_name":"TNNT2","entity_type":"gene"},{"created":"2020-06-20T16:40:51.720176+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnnt2 has been classified as Green List (High Evidence).","entity_name":"TNNT2","entity_type":"gene"},{"created":"2020-06-20T16:40:48.179154+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNT2 were set to ","entity_name":"TNNT2","entity_type":"gene"},{"created":"2020-06-20T16:40:20.961694+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNT2 were changed from  to Cardiomyopathy, hypertrophic, 2, MIM#\t115195","entity_name":"TNNT2","entity_type":"gene"},{"created":"2020-06-20T16:39:40.660637+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNNT2","entity_type":"gene"},{"created":"2020-06-20T16:38:51.149752+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYL2 as ready","entity_name":"MYL2","entity_type":"gene"},{"created":"2020-06-20T16:38:51.141429+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl2 has been classified as Green List (High Evidence).","entity_name":"MYL2","entity_type":"gene"},{"created":"2020-06-20T16:38:42.989424+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYL2 were set to ","entity_name":"MYL2","entity_type":"gene"},{"created":"2020-06-20T16:38:19.994641+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYL2 were changed from  to Cardiomyopathy, hypertrophic, 10, MIM#\t608758","entity_name":"MYL2","entity_type":"gene"},{"created":"2020-06-20T16:37:52.925437+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYL2","entity_type":"gene"},{"created":"2020-06-20T16:37:11.531650+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH7 as ready","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-06-20T16:37:11.522837+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Green List (High Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-06-20T16:37:09.162415+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH7 were changed from  to Cardiomyopathy, hypertrophic, 1, MIM#\t192600","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-06-20T16:36:41.736909+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH7 were set to ","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-06-20T16:36:12.571073+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-06-20T16:35:27.278575+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL24 as ready","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-06-20T16:35:27.258501+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl24 has been classified as Green List (High Evidence).","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-06-20T16:34:44.866880+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLNC were set to 31924696; 28356264","entity_name":"FLNC","entity_type":"gene"},{"created":"2020-06-20T16:33:38.890894+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DES as ready","entity_name":"DES","entity_type":"gene"},{"created":"2020-06-20T16:33:38.881234+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: des has been classified as Red List (Low Evidence).","entity_name":"DES","entity_type":"gene"},{"created":"2020-06-20T16:33:36.299397+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DES were changed from  to Hypertrophic cardiomyopathy; Dilated cardiomyopathy; Myofibrillar myopathy; ARVC","entity_name":"DES","entity_type":"gene"},{"created":"2020-06-20T16:32:46.529314+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DES was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DES","entity_type":"gene"},{"created":"2020-06-20T16:32:20.258694+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DES was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DES","entity_type":"gene"},{"created":"2020-06-20T16:31:59.625592+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DES was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DES","entity_type":"gene"},{"created":"2020-06-20T16:30:54.456674+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DES as Red List (low evidence)","entity_name":"DES","entity_type":"gene"},{"created":"2020-06-20T16:30:54.447072+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: des has been classified as Red List (Low Evidence).","entity_name":"DES","entity_type":"gene"},{"created":"2020-06-20T16:29:48.521380+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSRP3 as ready","entity_name":"CSRP3","entity_type":"gene"},{"created":"2020-06-20T16:29:48.516961+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Sufficient number of families reported with good segregation data but agree caution needed in light of some of these variants being present at low frequency in the population.","entity_name":"CSRP3","entity_type":"gene"},{"created":"2020-06-20T16:29:48.486606+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csrp3 has been classified as Green List (High Evidence).","entity_name":"CSRP3","entity_type":"gene"},{"created":"2020-06-20T16:29:17.773358+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSRP3 were changed from  to Cardiomyopathy, hypertrophic, 12, MIM#\t612124","entity_name":"CSRP3","entity_type":"gene"},{"created":"2020-06-20T16:28:53.900507+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSRP3 were set to ","entity_name":"CSRP3","entity_type":"gene"},{"created":"2020-06-20T16:27:49.135756+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CSRP3","entity_type":"gene"},{"created":"2020-06-20T16:26:52.179611+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAV3 as ready","entity_name":"CAV3","entity_type":"gene"}]}