{"count":220862,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=714","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=712","results":[{"created":"2022-10-14T16:49:15.185490+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SDHD was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-14T16:49:01.934752+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-14T16:47:35.728084+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC8 as ready","entity_name":"CCDC8","entity_type":"gene"},{"created":"2022-10-14T16:47:35.719052+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc8 has been classified as Green List (High Evidence).","entity_name":"CCDC8","entity_type":"gene"},{"created":"2022-10-14T16:47:29.988890+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC8 as Green List (high evidence)","entity_name":"CCDC8","entity_type":"gene"},{"created":"2022-10-14T16:47:29.981027+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc8 has been classified as Green List (High Evidence).","entity_name":"CCDC8","entity_type":"gene"},{"created":"2022-10-14T16:41:24.760911+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.406","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SCNN1A.","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-10-14T16:40:42.970765+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SCNN1A.","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-10-14T16:39:21.698782+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: SCN8A.","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-10-14T16:35:15.992091+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA3 as ready","entity_name":"GATA3","entity_type":"gene"},{"created":"2022-10-14T16:35:15.982788+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata3 has been classified as Green List (High Evidence).","entity_name":"GATA3","entity_type":"gene"},{"created":"2022-10-14T16:35:07.115151+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GATA3.","entity_name":"GATA3","entity_type":"gene"},{"created":"2022-10-14T16:34:56.553620+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA3","entity_type":"gene"},{"created":"2022-10-14T16:29:12.355485+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GATA2.","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-10-14T16:28:42.634453+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.406","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GATA2.","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-10-14T16:26:58.150007+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GATA2.","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-10-14T16:26:06.205326+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA2 as ready","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-10-14T16:26:06.185786+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata2 has been classified as Green List (High Evidence).","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-10-14T16:25:57.753448+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATA2 were set to PMID: 25397911, 30047422","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-10-14T16:25:40.822140+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GATA2.","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-10-14T16:24:42.878622+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAN as ready","entity_name":"GAN","entity_type":"gene"},{"created":"2022-10-14T16:24:42.870741+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gan has been classified as Red List (Low Evidence).","entity_name":"GAN","entity_type":"gene"},{"created":"2022-10-14T16:24:39.325800+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAN were changed from Giant axonal neuropathy to Giant axonal neuropathy-1, MIM#256850","entity_name":"GAN","entity_type":"gene"},{"created":"2022-10-14T16:24:25.666300+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAN as Red List (low evidence)","entity_name":"GAN","entity_type":"gene"},{"created":"2022-10-14T16:24:25.656767+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gan has been classified as Red List (Low Evidence).","entity_name":"GAN","entity_type":"gene"},{"created":"2022-10-14T16:24:13.328715+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: None","entity_name":"GAN","entity_type":"gene"},{"created":"2022-10-14T16:21:42.776162+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GAMT.","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:21:24.814394+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GAMT.","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:21:05.984556+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4995","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GAMT.","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:20:48.749112+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: GAMT.","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:20:20.997667+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1771","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAMT as ready","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:20:20.988235+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1771","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Green List (High Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:20:03.219201+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1771","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAMT were changed from  to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:19:25.169967+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1770","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GAMT were set to ","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:18:20.631916+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1769","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:17:48.140699+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1768","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GAMT.","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:17:22.904693+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.406","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GAMT.","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:16:51.725985+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAMT as ready","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:16:51.716484+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Green List (High Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:16:44.763955+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GAMT.","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-14T16:05:46.601162+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNS as ready","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:05:46.589814+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galns has been classified as Green List (High Evidence).","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:04:38.593176+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNS as ready","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:04:38.583542+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galns has been classified as Green List (High Evidence).","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:04:34.623614+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:03:26.695545+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALNS.","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:02:49.178561+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALNS.","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:01:10.966048+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.406","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALNS.","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:00:52.849687+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALNS.","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:00:27.242153+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA to Mucopolysaccharidosis IVA, MIM#253000","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T16:00:14.951600+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALNS.","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-14T15:59:30.291662+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALC as ready","entity_name":"GALC","entity_type":"gene"},{"created":"2022-10-14T15:59:30.272963+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galc has been classified as Green List (High Evidence).","entity_name":"GALC","entity_type":"gene"},{"created":"2022-10-14T15:59:21.614962+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALC were changed from Krabbe disease to Krabbe disease, MIM#245200","entity_name":"GALC","entity_type":"gene"},{"created":"2022-10-14T15:59:09.397606+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALC.","entity_name":"GALC","entity_type":"gene"},{"created":"2022-10-14T13:33:54.583823+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.406","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IMPA1 as ready","entity_name":"IMPA1","entity_type":"gene"},{"created":"2022-10-14T13:33:54.575862+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.406","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: impa1 has been classified as Amber List (Moderate Evidence).","entity_name":"IMPA1","entity_type":"gene"},{"created":"2022-10-14T13:28:57.705023+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.406","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IMPA1 as Amber List (moderate evidence)","entity_name":"IMPA1","entity_type":"gene"},{"created":"2022-10-14T13:28:57.696126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.406","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: impa1 has been classified as Amber List (Moderate Evidence).","entity_name":"IMPA1","entity_type":"gene"},{"created":"2022-10-14T13:00:52.367814+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.405","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IMPA1 was added\ngene: IMPA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IMPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IMPA1 were set to 26416544; 24554717; 32839513; 17460611\nPhenotypes for gene: IMPA1 were set to intellectual disability, autosomal recessive 59 MONDO:0015020\nReview for gene: IMPA1 was set to AMBER\nAdded comment: A homozygous frameshift variant identified in a large Brazilian consanguineous family with ID, also supporting functional studies and null mouse models. \nSources: Literature","entity_name":"IMPA1","entity_type":"gene"},{"created":"2022-10-14T12:21:08.392144+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.140","user_name":"Krithika Murali","item_type":"entity","text":"gene: CHST3 was added\ngene: CHST3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST3 were set to 15368507; 17618475\nPhenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095\nReview for gene: CHST3 was set to GREEN\nAdded comment: Severe short stature of prenatal onset with disproportionately shortened limbs. \nSources: Literature, Expert list","entity_name":"CHST3","entity_type":"gene"},{"created":"2022-10-14T11:49:31.438967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.404","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARNT2 as ready","entity_name":"ARNT2","entity_type":"gene"},{"created":"2022-10-14T11:49:31.428690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.404","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arnt2 has been classified as Amber List (Moderate Evidence).","entity_name":"ARNT2","entity_type":"gene"},{"created":"2022-10-14T11:42:46.210387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.404","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARNT2 as Amber List (moderate evidence)","entity_name":"ARNT2","entity_type":"gene"},{"created":"2022-10-14T11:42:46.194022+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.404","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arnt2 has been classified as Amber List (Moderate Evidence).","entity_name":"ARNT2","entity_type":"gene"},{"created":"2022-10-14T11:02:00.717846+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.403","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARNT2 was added\ngene: ARNT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARNT2 were set to 11381139; 24022475\nPhenotypes for gene: ARNT2 were set to Webb-Dattani syndrome MONDO:0014404\nReview for gene: ARNT2 was set to AMBER\nAdded comment: A homozygous frameshift (c.1373_1374dupTC) in  six affected children from a highly consanguineous family with a syndromic phenotype including microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. In a Arnt2(-/-) mouse model embryos die perinatally and exhibit impaired hypothalamic development. \nSources: Literature","entity_name":"ARNT2","entity_type":"gene"},{"created":"2022-10-13T17:16:03.721238+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.548","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SDHD as ready","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-13T17:16:03.712933+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.548","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sdhd has been classified as Red List (Low Evidence).","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-13T17:15:47.333961+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.548","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SDHD were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-13T17:15:35.779774+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.547","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-13T17:15:24.798209+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.546","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SDHD as Red List (low evidence)","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-13T17:15:24.783967+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.546","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sdhd has been classified as Red List (Low Evidence).","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-13T17:14:26.053431+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-10-13T17:03:30.722397+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C9 as ready","entity_name":"C9","entity_type":"gene"},{"created":"2022-10-13T17:03:30.713453+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c9 has been classified as Green List (High Evidence).","entity_name":"C9","entity_type":"gene"},{"created":"2022-10-13T17:03:21.331196+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: C9.","entity_name":"C9","entity_type":"gene"},{"created":"2022-10-13T17:03:18.881888+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.140","user_name":"Krithika Murali","item_type":"entity","text":"gene: CCDC8 was added\ngene: CCDC8 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC8 were set to 21737058\nPhenotypes for gene: CCDC8 were set to 3-M syndrome 3 - MIM#614205\nReview for gene: CCDC8 was set to GREEN\nAdded comment: Severe short stature with relative macrocephaly/preserved HC noted antenatally and at birth. \nSources: Literature, Expert list","entity_name":"CCDC8","entity_type":"gene"},{"created":"2022-10-13T17:03:11.723377+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C9","entity_type":"gene"},{"created":"2022-10-13T16:59:55.217755+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C8B as ready","entity_name":"C8B","entity_type":"gene"},{"created":"2022-10-13T16:59:55.209271+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c8b has been classified as Green List (High Evidence).","entity_name":"C8B","entity_type":"gene"},{"created":"2022-10-13T16:59:47.287528+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C8B","entity_type":"gene"},{"created":"2022-10-13T16:58:26.038318+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C8A as ready","entity_name":"C8A","entity_type":"gene"},{"created":"2022-10-13T16:58:26.028341+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c8a has been classified as Red List (Low Evidence).","entity_name":"C8A","entity_type":"gene"},{"created":"2022-10-13T16:58:08.025043+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C8A as Red List (low evidence)","entity_name":"C8A","entity_type":"gene"},{"created":"2022-10-13T16:58:08.014436+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c8a has been classified as Red List (Low Evidence).","entity_name":"C8A","entity_type":"gene"},{"created":"2022-10-13T16:57:56.171765+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.544","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C8A","entity_type":"gene"},{"created":"2022-10-13T16:55:45.004157+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.544","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C7 as ready","entity_name":"C7","entity_type":"gene"},{"created":"2022-10-13T16:55:44.991960+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.544","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c7 has been classified as Green List (High Evidence).","entity_name":"C7","entity_type":"gene"},{"created":"2022-10-13T16:54:32.405818+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.544","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: C7.","entity_name":"C7","entity_type":"gene"},{"created":"2022-10-13T16:54:21.550374+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.544","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C7","entity_type":"gene"},{"created":"2022-10-13T16:46:39.424629+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1768","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1A as ready","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:46:39.415013+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1768","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1a has been classified as Green List (High Evidence).","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:46:34.007695+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1768","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1A were changed from  to Developmental and epileptic encephalopathy 42, MIM# 617106","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:40:13.695096+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1767","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1A were set to ","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:39:22.996135+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1766","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:39:01.260806+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1765","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:38:38.162966+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1765","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:32:02.469802+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1764","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA1A as Green List (high evidence)","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:32:02.459584+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1764","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1a has been classified as Green List (High Evidence).","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-10-13T16:31:30.179554+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1763","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, MIM# 617106; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CACNA1A","entity_type":"gene"}]}