{"count":220828,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=729","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=727","results":[{"created":"2022-10-06T13:01:37.364333+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MVK were changed from Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377 to Mevalonic aciduria, MIM# 610377","entity_name":"MVK","entity_type":"gene"},{"created":"2022-10-06T13:01:17.414392+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MVK were set to ","entity_name":"MVK","entity_type":"gene"},{"created":"2022-10-06T13:01:05.405802+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MVK.","entity_name":"MVK","entity_type":"gene"},{"created":"2022-10-06T13:00:55.432567+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MVK","entity_type":"gene"},{"created":"2022-10-06T13:00:08.909820+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPA as ready","entity_name":"XPA","entity_type":"gene"},{"created":"2022-10-06T13:00:08.900687+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpa has been classified as Green List (High Evidence).","entity_name":"XPA","entity_type":"gene"},{"created":"2022-10-06T13:00:05.041969+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XPA were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group A MIM#278700","entity_name":"XPA","entity_type":"gene"},{"created":"2022-10-06T12:59:47.004778+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: XPA.\nTag clinical trial tag was added to gene: XPA.","entity_name":"XPA","entity_type":"gene"},{"created":"2022-10-06T12:59:00.068569+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.348","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAF3 were set to 20832341","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:58:43.069921+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPC as ready","entity_name":"XPC","entity_type":"gene"},{"created":"2022-10-06T12:58:43.061183+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpc has been classified as Green List (High Evidence).","entity_name":"XPC","entity_type":"gene"},{"created":"2022-10-06T12:58:20.640446+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XPC were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group C MIM#278720","entity_name":"XPC","entity_type":"gene"},{"created":"2022-10-06T12:58:10.501069+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XPC were set to ","entity_name":"XPC","entity_type":"gene"},{"created":"2022-10-06T12:57:59.552071+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: XPC.\nTag clinical trial tag was added to gene: XPC.","entity_name":"XPC","entity_type":"gene"},{"created":"2022-10-06T12:57:04.607348+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.347","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAF3 as Green List (high evidence)","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:57:04.599712+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3 has been classified as Green List (High Evidence).","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:56:47.163984+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single individual reported.; to: Single individual reported with HSV-induced encephalopathy.","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:56:26.534524+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRAF3: Added comment: PMID 35960817: Nine individuals from five unrelated families with childhood-onset immune diseases and recurrent infections. All patients had suffered recurrent ear and sinopulmonary infections, including pneumonias from encapsulated bacteria Streptococcus pneumoniae and Haemophilus influenza, resulting in early-onset bronchiectasis in several individuals; Changed rating: GREEN; Changed publications: 20832341, 35960817; Changed phenotypes: Autoinflammatory syndrome, TRAF3-related, MONDO:0019751, hypergammaglobulinemia, lymphadenopathy, splenomegaly, Sjögren’s syndrome, {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:55:56.731869+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAF3 as ready","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:55:56.722980+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3 has been classified as Green List (High Evidence).","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:55:22.950711+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAF3 were changed from hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome to Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:54:23.275772+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAF3 as Green List (high evidence)","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:54:23.266911+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3 has been classified as Green List (High Evidence).","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:53:56.142065+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRAF3","entity_type":"gene"},{"created":"2022-10-06T12:51:34.960738+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUTYH as ready","entity_name":"MUTYH","entity_type":"gene"},{"created":"2022-10-06T12:51:34.953061+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mutyh has been classified as Red List (Low Evidence).","entity_name":"MUTYH","entity_type":"gene"},{"created":"2022-10-06T12:51:22.047982+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MUTYH were changed from MUTYH-associated polyposis to Adenomas, multiple colorectal, MIM# 608456","entity_name":"MUTYH","entity_type":"gene"},{"created":"2022-10-06T12:50:57.614425+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MUTYH as Red List (low evidence)","entity_name":"MUTYH","entity_type":"gene"},{"created":"2022-10-06T12:50:57.605708+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mutyh has been classified as Red List (Low Evidence).","entity_name":"MUTYH","entity_type":"gene"},{"created":"2022-10-06T12:24:53.055985+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.154","user_name":"Krithika Murali","item_type":"entity","text":"gene: KCNK3 was added\ngene: KCNK3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNK3 were set to 36195757\nPhenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)\nReview for gene: KCNK3 was set to GREEN\nAdded comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism.  IUGR reported in 3/9 probands and polyhdramnios in 2/9. \r\n\r\nKCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation.  TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.\r\n\r\n----\r\n\r\nHeterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension \nSources: Literature","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T12:24:26.008494+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.71","user_name":"Krithika Murali","item_type":"entity","text":"gene: KCNK3 was added\ngene: KCNK3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNK3 were set to 36195757\nPhenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)\nReview for gene: KCNK3 was set to GREEN\nAdded comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism.  IUGR reported in 3/9 probands and polyhdramnios in 2/9. \r\n\r\nKCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation.  TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.\r\n\r\n----\r\n\r\nHeterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension \nSources: Literature","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T12:23:07.516338+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.267","user_name":"Krithika Murali","item_type":"entity","text":"gene: KCNK3 was added\ngene: KCNK3 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNK3 were set to 36195757\nPhenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)\nReview for gene: KCNK3 was set to GREEN\nAdded comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism.  IUGR reported in 3/9 probands and polyhdramnios in 2/9. \r\n\r\nKCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation.  TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.\r\n\r\n----\r\n\r\nHeterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension \nSources: Literature","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T12:21:39.373744+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.353","user_name":"Krithika Murali","item_type":"entity","text":"gene: KCNK3 was added\ngene: KCNK3 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNK3 were set to 36195757\nPhenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)\nReview for gene: KCNK3 was set to GREEN\nAdded comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism.  IUGR reported in 3/9 probands and polyhdramnios in 2/9. \r\n\r\nKCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation.  TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.\r\n\r\n----\r\n\r\nHeterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension \nSources: Literature","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T12:20:01.877659+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.3","user_name":"Krithika Murali","item_type":"entity","text":"gene: KCNK3 was added\ngene: KCNK3 was added to Central Hypoventilation. Sources: Literature\nMode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNK3 were set to 36195757\nPhenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)\nReview for gene: KCNK3 was set to GREEN\nAdded comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism.  IUGR reported in 3/9 probands and polyhdramnios in 2/9. \r\n\r\nKCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation.  TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.\r\n\r\n----\r\n\r\nHeterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension \nSources: Literature","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T12:18:30.974067+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36195757; Phenotypes: eurodevelopmental disorder, MONDO:0700092, KCNK3-related, developmental delay with sleep apnoea (DDSA), Pulmonary hypertension, primary, 4-MIM#615344; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T12:15:19.974311+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4959","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36195757; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KCNK3-related, developmental delay with sleep apnoea (DDSA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T12:14:38.462388+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.13","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T12:00:21.508751+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MYSM1.","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-10-06T12:00:01.837365+11:00","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: MYSM1.","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-10-06T11:59:48.354251+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MYSM1.","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-10-06T11:59:31.136599+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MYSM1.","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-10-06T11:59:24.506805+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYSM1 as ready","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-10-06T11:59:24.497882+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mysm1 has been classified as Green List (High Evidence).","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-10-06T11:59:15.110221+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4, MIM#618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-10-06T11:58:34.100782+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MUSK.","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-10-06T11:58:13.310860+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUSK as ready","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-10-06T11:58:13.302897+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: musk has been classified as Green List (High Evidence).","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-10-06T11:58:08.341027+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MUSK.","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-10-06T11:57:50.865403+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-10-06T11:56:57.988873+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTTP.","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:56:44.560174+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTTP.","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:56:29.220674+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTTP.","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:56:17.029074+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTTP.","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:56:04.024449+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTTP.","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:55:50.513169+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTTP.","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:55:11.400863+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTTP as ready","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:55:11.387553+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mttp has been classified as Green List (High Evidence).","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:55:05.054534+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTTP were changed from Abetalipoproteinaemia to Abetalipoproteinemia, MIM# 200100","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:54:49.246026+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTTP.","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:54:39.699081+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-10-06T11:53:59.354267+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTRR as ready","entity_name":"MTRR","entity_type":"gene"},{"created":"2022-10-06T11:53:59.343309+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtrr has been classified as Green List (High Evidence).","entity_name":"MTRR","entity_type":"gene"},{"created":"2022-10-06T11:53:53.955453+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTRR were set to ","entity_name":"MTRR","entity_type":"gene"},{"created":"2022-10-06T11:53:40.762683+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.382","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTRR","entity_type":"gene"},{"created":"2022-10-06T11:52:56.638593+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.382","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSX2 as ready","entity_name":"MSX2","entity_type":"gene"},{"created":"2022-10-06T11:52:56.629220+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.382","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msx2 has been classified as Red List (Low Evidence).","entity_name":"MSX2","entity_type":"gene"},{"created":"2022-10-06T11:52:51.092513+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.382","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSX2 were changed from Parietal foramina 1 to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)","entity_name":"MSX2","entity_type":"gene"},{"created":"2022-10-06T11:52:39.002160+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MSX2 as Red List (low evidence)","entity_name":"MSX2","entity_type":"gene"},{"created":"2022-10-06T11:52:38.983659+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msx2 has been classified as Red List (Low Evidence).","entity_name":"MSX2","entity_type":"gene"},{"created":"2022-10-06T11:52:26.992047+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MSX2","entity_type":"gene"},{"created":"2022-10-06T11:51:29.770925+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRAP as ready","entity_name":"MRAP","entity_type":"gene"},{"created":"2022-10-06T11:51:29.761138+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrap has been classified as Green List (High Evidence).","entity_name":"MRAP","entity_type":"gene"},{"created":"2022-10-06T11:51:23.476628+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MRAP.","entity_name":"MRAP","entity_type":"gene"},{"created":"2022-10-06T11:51:14.479980+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, MIM# 607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRAP","entity_type":"gene"},{"created":"2022-10-06T11:50:29.686136+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTR as ready","entity_name":"MTR","entity_type":"gene"},{"created":"2022-10-06T11:50:29.677497+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtr has been classified as Green List (High Evidence).","entity_name":"MTR","entity_type":"gene"},{"created":"2022-10-06T11:50:26.138522+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTR were changed from Methylmalonic aciduria and homocystinuria, MIM#250940 to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940","entity_name":"MTR","entity_type":"gene"},{"created":"2022-10-06T11:50:14.566858+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.379","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTR were set to ","entity_name":"MTR","entity_type":"gene"},{"created":"2022-10-06T11:50:00.496828+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.378","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTR","entity_type":"gene"},{"created":"2022-10-06T11:49:14.835536+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.378","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTM1 as ready","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-10-06T11:49:14.822465+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.378","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtm1 has been classified as Red List (Low Evidence).","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-10-06T11:49:10.986625+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.378","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked to Myopathy, centronuclear, X-linked, MIM# 310400","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-10-06T11:48:59.059513+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.377","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MTM1 as Red List (low evidence)","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-10-06T11:48:59.051354+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtm1 has been classified as Red List (Low Evidence).","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-10-06T11:48:48.530936+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.376","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-10-06T11:48:08.801856+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.376","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPZ as ready","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-10-06T11:48:08.785862+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.376","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpz has been classified as Red List (Low Evidence).","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-10-06T11:48:04.586943+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.376","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-10-06T11:47:52.800663+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.375","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-10-06T11:47:43.773824+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.374","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPZ as Red List (low evidence)","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-10-06T11:47:43.764583+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpz has been classified as Red List (Low Evidence).","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-10-06T11:47:31.645225+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.373","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot Marie Tooth disease, dominant intermediate D, 60779, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Dejerine Sottas disease, 145900, Charcot Marie Tooth disease, type 1B, 118200, Charcot Marie Tooth disease, type 2I, 607677; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-10-06T11:46:16.647225+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.373","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPV17 as ready","entity_name":"MPV17","entity_type":"gene"},{"created":"2022-10-06T11:46:16.636751+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.373","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpv17 has been classified as Red List (Low Evidence).","entity_name":"MPV17","entity_type":"gene"},{"created":"2022-10-06T11:46:12.632560+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.373","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome, hepatic to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810","entity_name":"MPV17","entity_type":"gene"},{"created":"2022-10-06T11:46:00.906912+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.372","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPV17 as Red List (low evidence)","entity_name":"MPV17","entity_type":"gene"},{"created":"2022-10-06T11:46:00.898570+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpv17 has been classified as Red List (Low Evidence).","entity_name":"MPV17","entity_type":"gene"},{"created":"2022-10-06T11:45:49.509652+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPV17","entity_type":"gene"},{"created":"2022-10-06T11:45:10.104193+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MPL.","entity_name":"MPL","entity_type":"gene"},{"created":"2022-10-06T11:44:59.916110+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPL as ready","entity_name":"MPL","entity_type":"gene"}]}