{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=750","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=748","results":[{"created":"2022-09-21T11:31:35.369900+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ALPL.","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-21T11:30:52.346442+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPL as ready","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-21T11:30:52.336708+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Green List (High Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-21T11:30:48.721727+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPL were changed from Hypophosphatasia, MIM#241500 to Hypophosphatasia, childhood OMIM#241510; Hypophosphatasia, infantile OMIM#241500","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-21T11:30:37.575254+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALPL were set to ","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-21T11:30:26.881366+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ALPL.","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-21T11:30:15.334188+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALPL: Changed publications: 31413732, 30811537","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-21T11:28:30.276151+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia, childhood OMIM#241510, Hypophosphatasia, infantile OMIM#241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-21T11:19:23.951454+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMELX as ready","entity_name":"AMELX","entity_type":"gene"},{"created":"2022-09-21T11:19:23.942570+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amelx has been classified as Red List (Low Evidence).","entity_name":"AMELX","entity_type":"gene"},{"created":"2022-09-21T11:19:20.626678+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta to Amelogenesis imperfecta, type 1E, MIM# 301200","entity_name":"AMELX","entity_type":"gene"},{"created":"2022-09-21T11:19:08.359189+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AMELX as Red List (low evidence)","entity_name":"AMELX","entity_type":"gene"},{"created":"2022-09-21T11:19:08.350647+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amelx has been classified as Red List (Low Evidence).","entity_name":"AMELX","entity_type":"gene"},{"created":"2022-09-21T11:18:56.014718+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMELX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type 1E, MIM# 301200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AMELX","entity_type":"gene"},{"created":"2022-09-21T11:14:45.362536+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALX4 as ready","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-09-21T11:14:45.347041+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alx4 has been classified as Red List (Low Evidence).","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-09-21T11:14:40.083074+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALX4 were changed from Parietal foramina 2 to Frontonasal dysplasia 2 MIM# 613451; Parietal foramina 2 MIM# 609597; {Craniosynostosis 5, susceptibility to} MIM#615529","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-09-21T11:00:58.084085+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-09-21T11:00:48.644474+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALX4 as Red List (low evidence)","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-09-21T11:00:48.628652+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alx4 has been classified as Red List (Low Evidence).","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-09-21T11:00:36.745817+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 2 MIM# 613451, Parietal foramina 2 MIM# 609597, {Craniosynostosis 5, susceptibility to} MIM#615529; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-09-21T10:58:57.123469+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALOXE3 as ready","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2022-09-21T10:58:57.113735+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aloxe3 has been classified as Red List (Low Evidence).","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2022-09-21T10:58:53.625829+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 3, MIM#606545","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2022-09-21T10:58:40.432278+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALOXE3 as Red List (low evidence)","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2022-09-21T10:58:40.415609+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aloxe3 has been classified as Red List (Low Evidence).","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2022-09-21T10:58:29.471283+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2022-09-21T10:56:35.323917+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALS2 as ready","entity_name":"ALS2","entity_type":"gene"},{"created":"2022-09-21T10:56:35.314407+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: als2 has been classified as Red List (Low Evidence).","entity_name":"ALS2","entity_type":"gene"},{"created":"2022-09-21T10:56:21.088150+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALS2 were changed from Amyotrophic lateral sclerosis to Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353)","entity_name":"ALS2","entity_type":"gene"},{"created":"2022-09-21T10:56:04.383063+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALS2 as Red List (low evidence)","entity_name":"ALS2","entity_type":"gene"},{"created":"2022-09-21T10:56:04.353485+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: als2 has been classified as Red List (Low Evidence).","entity_name":"ALS2","entity_type":"gene"},{"created":"2022-09-21T10:55:51.991391+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile onset ascending spastic paralysis (MIM#607225), Juvenile amyotrophic lateral sclerosis 2 (MIM#205100), Juvenile primary lateral sclerosis (MIM#606353); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALS2","entity_type":"gene"},{"created":"2022-09-21T10:39:04.515808+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALOX12B as ready","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2022-09-21T10:39:04.505442+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alox12b has been classified as Red List (Low Evidence).","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2022-09-21T10:38:59.987520+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2022-09-21T10:38:43.472485+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALOX12B as Red List (low evidence)","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2022-09-21T10:38:43.461033+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alox12b has been classified as Red List (Low Evidence).","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2022-09-21T10:38:20.595762+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALOX12B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2022-09-21T10:23:33.672871+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TNFRSF11B was added\ngene: TNFRSF11B was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF11B were set to 14672344\nPhenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset\t- MIM#239000\nReview for gene: TNFRSF11B was set to RED\nAdded comment: Onset of skeletal features in the first decade of life with prenatal anomalies not described. \nSources: Expert list, Literature","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2022-09-21T10:12:57.500185+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TNFSF11 was added\ngene: TNFSF11 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFSF11 were set to 17632511; 32048120; 10984520\nPhenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, MIM# 259710\nReview for gene: TNFSF11 was set to RED\nAdded comment: Prenatal skeletal anomalies not described. \nSources: Expert list, Literature","entity_name":"TNFSF11","entity_type":"gene"},{"created":"2022-09-21T10:10:11.470930+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TONSL was added\ngene: TONSL was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TONSL were set to 30773277; 30773278; 32959051\nPhenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068\nReview for gene: TONSL was set to RED\nAdded comment: Prenatal skeletal anomalies not reported. \nSources: Expert list, Literature","entity_name":"TONSL","entity_type":"gene"},{"created":"2022-09-21T10:06:27.416507+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TP63 was added\ngene: TP63 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP63 were set to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289\nReview for gene: TP63 was set to GREEN\nAdded comment: Skeletal anomalies including split hand foot malformation, missing metatarsals can be detected antenatally. \nSources: Expert list, Literature","entity_name":"TP63","entity_type":"gene"},{"created":"2022-09-21T10:00:05.316997+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TRAPPC2 was added\ngene: TRAPPC2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda -MIM#313400\nReview for gene: TRAPPC2 was set to RED\nAdded comment: Prenatal features not described. \nSources: Expert list, Literature","entity_name":"TRAPPC2","entity_type":"gene"},{"created":"2022-09-21T09:49:06.687129+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TREM2 was added\ngene: TREM2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TREM2 were set to 12080485; 15883308\nPhenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 - MIM#618193\nReview for gene: TREM2 was set to RED\nAdded comment: Associated with adult-onset skeletal anomalies \nSources: Expert list, Literature","entity_name":"TREM2","entity_type":"gene"},{"created":"2022-09-21T09:45:56.194975+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TRPS1 was added\ngene: TRPS1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPS1 were set to 25792522; 28426188\nPhenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I - MIM#190350; Trichorhinophalangeal syndrome, type III - MIM#190351\nReview for gene: TRPS1 was set to AMBER\nAdded comment: Prenatal diagnosis not described in the literature PMID 25792522 report 4/24 patients in a cohort as having <-2SD birth length. \nSources: Expert list, Literature","entity_name":"TRPS1","entity_type":"gene"},{"created":"2022-09-21T09:28:36.791394+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TTC8 was added\ngene: TTC8 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC8 were set to 14520415; 19797195\nPhenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8 - MIM#615985\nReview for gene: TTC8 was set to GREEN\nAdded comment: Polydactyly is an associated skeletal feature amenable to prenatal detection. \nSources: Expert list, Literature","entity_name":"TTC8","entity_type":"gene"},{"created":"2022-09-21T09:25:10.951698+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TWIST1 was added\ngene: TWIST1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TWIST1 were set to 17343269; 9585583; 12116251; 31299755; 30040876\nPhenotypes for gene: TWIST1 were set to Craniosynostosis 1 - MIM#123100; Saethre-Chotzen syndrome with or without eyelid anomalies - MIM# 101400; Sweeny-Cox syndrome - MIM# 617746; Robinow-Sorauf syndrome - MIM#180750\nReview for gene: TWIST1 was set to GREEN\ngene: TWIST1 was marked as current diagnostic\nAdded comment: Some skeletal features of TWIST1-associated disorders amenable to prenatal diagnosis - craniosynostosis (head shape anomalies on antenatal USS), digital anomalies (e.g. absent metatarsal), talipes equinovarus. \nSources: Expert list, Literature","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-09-21T09:14:58.594147+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.91","user_name":"Krithika Murali","item_type":"entity","text":"gene: TYROBP was added\ngene: TYROBP was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TYROBP were set to 20301376\nPhenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1- MIM#221770\nReview for gene: TYROBP was set to RED\nAdded comment: Associated with adult-onset skeletal anomalies (typically 3rd decade of life) \nSources: Expert list, Literature","entity_name":"TYROBP","entity_type":"gene"},{"created":"2022-09-21T07:11:49.728183+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features to Intestinal dysmotility syndrome, MIM# 620045; Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features","entity_name":"ANO1","entity_type":"gene"},{"created":"2022-09-21T07:11:28.607344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.337","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intestinal dysmotility syndrome, MIM# 620045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANO1","entity_type":"gene"},{"created":"2022-09-21T07:10:49.139355+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features to Intestinal dysmotility syndrome, MIM# 620045; Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features","entity_name":"ANO1","entity_type":"gene"},{"created":"2022-09-21T07:10:16.486791+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ANO1: Changed phenotypes: Intestinal dysmotility syndrome, MIM#  620045, Impaired intestinal peristalsis, haemorrhagic diarrhoea, dysmorphic features","entity_name":"ANO1","entity_type":"gene"},{"created":"2022-09-20T19:26:33.631686+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG14 as ready","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-20T19:26:33.621836+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg14 has been classified as Red List (Low Evidence).","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-20T19:26:29.722372+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-20T19:26:17.791048+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG14 as Red List (low evidence)","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-20T19:26:17.782341+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg14 has been classified as Red List (Low Evidence).","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-20T19:26:09.296534+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ALG14.","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-20T19:26:00.104304+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-20T19:21:42.219710+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKR1D1 as ready","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2022-09-20T19:21:42.209689+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1d1 has been classified as Green List (High Evidence).","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2022-09-20T19:20:54.434288+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AK2 as ready","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T19:20:54.423503+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ak2 has been classified as Green List (High Evidence).","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T19:19:31.570446+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADGRG1 as ready","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2022-09-20T19:19:31.560624+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg1 has been classified as Red List (Low Evidence).","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2022-09-20T19:19:28.187678+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, bilateral frontoparietal to Polymicrogyria, bilateral frontoparietal, MIM#606854","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2022-09-20T19:19:14.226828+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADGRG1 as Red List (low evidence)","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2022-09-20T19:19:14.216770+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg1 has been classified as Red List (Low Evidence).","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2022-09-20T19:19:02.997300+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADGRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2022-09-20T19:16:34.574927+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ADAMTS13.","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T19:16:11.268387+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.337","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ADAMTS13.","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T19:15:51.439592+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAMTS13 were set to ","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T19:15:38.922303+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADAMTS13: Changed publications: 31759790","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T19:15:12.201096+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ADAMTS13.","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T19:14:50.581271+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ADAMTS13.","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T19:14:35.902415+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS13 as ready","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T19:14:35.893086+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts13 has been classified as Green List (High Evidence).","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T19:14:23.984850+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-20T17:58:44.074455+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AK2.","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T17:58:25.436692+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AK2.","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T17:58:04.571377+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.337","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AK2.","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T17:57:53.920791+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AK2.","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T17:57:44.686298+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM#\t267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T17:57:34.349620+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AK2 were set to ","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T17:57:19.938014+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-20T17:53:32.161274+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AGRN.\nTag clinical trial tag was added to gene: AGRN.","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:52:58.259648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.337","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AGRN.\nTag clinical trial tag was added to gene: AGRN.","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:52:37.318842+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGRN as ready","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:52:37.308757+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agrn has been classified as Green List (High Evidence).","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:52:33.861062+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial, MIM#615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:52:21.709410+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Tag clinical trial tag was added to gene: AGRN.","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:51:40.050711+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AGRN.","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:51:29.936745+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported.\r\n\r\nSevere, congenital disorder.\r\n\r\nTreatment available: salbutamol, acetylcholine-esterase inhibitors.; to: Three unrelated families reported.\r\n\r\nSevere, congenital disorder.\r\n\r\nTreatment available: salbutamol, acetylcholine-esterase inhibitors.\r\n\r\nClinical trial: 3,4-Diaminopyridine.","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:50:43.428766+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-20T17:47:48.676779+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADA as ready","entity_name":"ADA","entity_type":"gene"},{"created":"2022-09-20T17:47:48.667716+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ada has been classified as Green List (High Evidence).","entity_name":"ADA","entity_type":"gene"},{"created":"2022-09-20T17:47:44.718852+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, MIM#102700 to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064","entity_name":"ADA","entity_type":"gene"},{"created":"2022-09-20T17:47:31.207397+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADA were set to ","entity_name":"ADA","entity_type":"gene"},{"created":"2022-09-20T17:47:20.378895+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ADA.\nTag clinical trial tag was added to gene: ADA.","entity_name":"ADA","entity_type":"gene"}]}