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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=750",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}