{"count":220440,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1523","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1521","results":[{"created":"2020-10-28T23:26:01.671919+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Shannon LeBlanc","item_type":"entity","text":"reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14595441, 28930843, 27513105, 26190014, 24656932; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, 135700, Fibrosis of extraocular muscles, congenital, 3B, 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-28T23:13:07.887472+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Shannon LeBlanc","item_type":"entity","text":"reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:27428177, 20074521, 26639658; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A 600638, Cortical dysplasia, complex, with other brain malformations 1, 602661; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB3","entity_type":"gene"},{"created":"2020-10-28T20:28:44.592519+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GATA3 was changed from None to Other","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:28:16.433235+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA3 as ready","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:28:16.429707+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Dominant negative effect proposed.","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:28:16.401514+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata3 has been classified as Amber List (Moderate Evidence).","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:27:14.399991+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA3 as ready","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:27:14.387733+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata3 has been classified as Amber List (Moderate Evidence).","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:27:07.965129+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 to Immune dysregulation; Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:26:04.207389+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GATA3 as Amber List (moderate evidence)","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:26:04.198355+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata3 has been classified as Amber List (Moderate Evidence).","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-28T20:25:10.386971+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFAF6 as ready","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:25:10.374544+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufaf6 has been classified as Green List (High Evidence).","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:25:07.356132+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFAF6 were changed from  to Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:24:37.836990+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFAF6 were set to ","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:24:10.126249+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:23:25.299047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5156","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFAF6 as ready","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:23:25.287049+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufaf6 has been classified as Green List (High Evidence).","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:23:17.839165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5156","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFAF6 were changed from  to Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:22:56.249860+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5155","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFAF6 were set to ","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:22:36.579555+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5154","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T20:21:54.830758+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092 to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092; Deafness, autosomal dominant","entity_name":"USH1C","entity_type":"gene"},{"created":"2020-10-28T20:21:27.008101+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USH1C were set to 10973247; 10973248; 11239869; 21203349; 12107438","entity_name":"USH1C","entity_type":"gene"},{"created":"2020-10-28T20:20:54.731162+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: USH1C was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"USH1C","entity_type":"gene"},{"created":"2020-10-28T11:00:22.673230+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.547","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642748; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T10:59:54.376659+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5153","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642748; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFAF6","entity_type":"gene"},{"created":"2020-10-28T09:51:45.445890+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.10","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C, MIM# 276904, Deafness, autosomal recessive 18A, MIM# 602092, ?Non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"USH1C","entity_type":"gene"},{"created":"2020-10-28T09:22:01.305928+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5153","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT5A as ready","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-10-28T09:22:01.296025+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt5a has been classified as Green List (High Evidence).","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-10-28T09:21:54.196864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5153","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNT5A were changed from  to Robinow syndrome, autosomal dominant 1, MIM#180700","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-10-28T09:21:34.886031+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5152","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT5A were set to ","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-10-28T09:21:16.859206+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5151","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNT5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-10-28T09:20:58.474407+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5150","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19918918, 24716670, 27092434, 29276006, 31032853, 16602827, 12839624, 10021340; Phenotypes: Robinow syndrome, autosomal dominant 1, MIM#180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-10-28T08:28:01.695434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP3A4 as ready","entity_name":"CYP3A4","entity_type":"gene"},{"created":"2020-10-28T08:28:01.682304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp3a4 has been classified as Green List (High Evidence).","entity_name":"CYP3A4","entity_type":"gene"},{"created":"2020-10-28T08:27:51.358491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5150","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP3A4 were changed from  to Vitamin D-dependent rickets-3, MIM#619073","entity_name":"CYP3A4","entity_type":"gene"},{"created":"2020-10-28T08:27:28.354962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5149","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP3A4 were set to ","entity_name":"CYP3A4","entity_type":"gene"},{"created":"2020-10-28T08:27:06.459594+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5148","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: CYP3A4 was changed from  to Other","entity_name":"CYP3A4","entity_type":"gene"},{"created":"2020-10-28T08:26:46.424113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5147","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP3A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CYP3A4","entity_type":"gene"},{"created":"2020-10-28T08:26:18.155388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5146","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP3A4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29461981; Phenotypes: Vitamin D-dependent rickets-3, MIM#619073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CYP3A4","entity_type":"gene"},{"created":"2020-10-28T08:25:59.964272+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.67","user_name":"Elena Savva","item_type":"entity","text":"gene: GATA3 was added\ngene: GATA3 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GATA3 were set to PMID: 31238969\nPhenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255\nReview for gene: GATA3 was set to AMBER\ngene: GATA3 was marked as current diagnostic\nAdded comment: PMID: 31238969: patient with protein elongation variant p.(M401Vfs*106) has an additional phenotype of juvenile idiopathic arthritis. Functional studies on the variant support pathogenicity, and analysis of patient cells indicate defective T helper cell differentiation and cytokine production. \nSources: Literature","entity_name":"GATA3","entity_type":"gene"},{"created":"2020-10-27T20:50:56.212584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCTD17 as ready","entity_name":"KCTD17","entity_type":"gene"},{"created":"2020-10-27T20:50:56.199837+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd17 has been classified as Green List (High Evidence).","entity_name":"KCTD17","entity_type":"gene"},{"created":"2020-10-27T20:50:49.055883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5146","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCTD17 were changed from  to Dystonia 26, myoclonic MIM#616398","entity_name":"KCTD17","entity_type":"gene"},{"created":"2020-10-27T20:50:24.899387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5145","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCTD17 were set to ","entity_name":"KCTD17","entity_type":"gene"},{"created":"2020-10-27T20:50:07.012393+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5144","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCTD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCTD17","entity_type":"gene"},{"created":"2020-10-27T20:49:48.740745+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5143","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCTD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983243, 30642807, 30579817; Phenotypes: Dystonia 26, myoclonic MIM#616398; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCTD17","entity_type":"gene"},{"created":"2020-10-27T20:47:44.784444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5143","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: TAF1.\nTag founder tag was added to gene: TAF1.","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-27T20:47:05.835158+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5143","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF1 as ready","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-27T20:47:05.827145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1 has been classified as Green List (High Evidence).","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-27T20:46:59.053234+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5143","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF1 were changed from  to Dystonia-Parkinsonism, X-linked, MIM# 314250; Mental retardation, X-linked, syndromic 33, MIM# 300966","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-27T20:46:37.600999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5142","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAF1 were set to ","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-27T20:46:16.308817+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5141","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-27T20:45:54.435224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5140","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273961, 31646703; Phenotypes: Dystonia-Parkinsonism, X-linked, MIM# 314250, Mental retardation, X-linked, syndromic 33, MIM# 300966; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-27T17:42:41.895220+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5140","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CTNNA3 as ready","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T17:42:41.880761+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5140","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctnna3 has been classified as Amber List (Moderate Evidence).","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T17:42:22.706264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5140","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CTNNA3 as Amber List (moderate evidence)","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T17:42:22.696284+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5140","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctnna3 has been classified as Amber List (Moderate Evidence).","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T17:41:42.260744+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Gene is classified as Limited by the ClinGen ARVC GCEP (Classification - 08/06/2019). \r\nPMID: 23136403 - an assumed de novo missense (V94D) was identified in an Italian proband with arrhythmogenic right ventricular dysplasia. An inframe deletion (Leu765del) was identified in a proband with arrhythmogenic right ventricular dysplasia, and was also present in the proband's asymptomatic father and paternal aunt, who had mild right ventricular dilation on echocardiography and increased trabeculations in the right ventricular apex on MRI, respectively, as well as in the aunt's asymptomatic son. There was supporting in vitro functional assay evidence for both variants. PMID: 21254927 - a missense variant was found in one of 55 Danish ARVD patients, but was found 37 times in 276,338 (1 homozygous) reference alleles in gnomAD making it less likely as a causal variant. PMID: 22421363 - null mice exhibit progressive dilated cardiomyopathy, gap junction remodelling, and increased sensitivity to ventricular arrhythmia following acute ischaemia, but not spontaneous ARVC. \r\nPMID: 30415094 - a VUS identified in a sudden unexpected death case with slight LV hypertrophy. PMID: 31539150 - 2 VUS and a nonsense variant identified in 3 probands with atrial fibrillation, with the nonsense variant segregating in an affected first-degree relative. \nSources: Other; to: Gene is classified as Limited by the ClinGen ARVC GCEP (Classification - 08/06/2019). \r\nPMID: 23136403 - an assumed de novo missense (V94D) was identified in an Italian proband with arrhythmogenic right ventricular dysplasia. An inframe deletion (Leu765del) was identified in a proband with arrhythmogenic right ventricular dysplasia, and was also present in the proband's asymptomatic father and paternal aunt, who had mild right ventricular dilation on echocardiography and increased trabeculations in the right ventricular apex on MRI, respectively, as well as in the aunt's asymptomatic son. There was supporting in vitro functional assay evidence for both variants. PMID: 21254927 - a missense variant was found in one of 55 Danish ARVD patients, but was found 37 times in 276,338 (1 homozygous) reference alleles in gnomAD making it less likely as a causal variant. PMID: 22421363 - null mice exhibit progressive dilated cardiomyopathy, gap junction remodelling, and increased sensitivity to ventricular arrhythmia following acute ischaemia, but not spontaneous ARVC. \r\nAdditional publications identified - PMID: 30415094 - a VUS identified in a sudden unexpected death case with slight LV hypertrophy. PMID: 31539150 - 2 VUS and a nonsense variant identified in 3 probands with atrial fibrillation, with the nonsense variant segregating in an affected first-degree relative. \r\nSources: Other","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T17:41:18.835545+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5139","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CTNNA3 was added\ngene: CTNNA3 was added to Mendeliome. Sources: ClinGen\nMode of inheritance for gene: CTNNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTNNA3 were set to 23136403; 21254927; 22421363; 30415094; 31539150\nPhenotypes for gene: CTNNA3 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616\nReview for gene: CTNNA3 was set to AMBER\nAdded comment: Gene is classified as Limited by the ClinGen ARVC GCEP (Classification - 08/06/2019). PMID: 23136403 - an assumed de novo missense (V94D) was identified in an Italian proband with arrhythmogenic right ventricular dysplasia. An inframe deletion (Leu765del) was identified in a proband with arrhythmogenic right ventricular dysplasia, and was also present in the proband's asymptomatic father and paternal aunt, who had mild right ventricular dilation on echocardiography and increased trabeculations in the right ventricular apex on MRI, respectively, as well as in the aunt's asymptomatic son. There was supporting in vitro functional assay evidence for both variants. PMID: 21254927 - a missense variant was found in one of 55 Danish ARVD patients, but was found 37 times in 276,338 (1 homozygous) reference alleles in gnomAD making it less likely as a causal variant. PMID: 22421363 - null mice exhibit progressive dilated cardiomyopathy, gap junction remodelling, and increased sensitivity to ventricular arrhythmia following acute ischaemia, but not spontaneous ARVC. Additional publications identified - PMID: 30415094 - a VUS identified in a sudden unexpected death case with slight LV hypertrophy. PMID: 31539150 - 2 VUS and a nonsense variant identified in 3 probands with atrial fibrillation, with the nonsense variant segregating in an affected first-degree relative. \nSources: ClinGen","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T17:37:29.540058+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CTNNA3 as Amber List (moderate evidence)","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T17:37:29.531538+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctnna3 has been classified as Amber List (Moderate Evidence).","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T17:36:35.145933+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CTNNA3 was added\ngene: CTNNA3 was added to Arrhythmogenic Cardiomyopathy. Sources: Other\nMode of inheritance for gene: CTNNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTNNA3 were set to 23136403; 21254927; 22421363; 30415094; 31539150\nPhenotypes for gene: CTNNA3 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia, familial, 13\tMIM#615616\nReview for gene: CTNNA3 was set to AMBER\nAdded comment: Gene is classified as Limited by the ClinGen ARVC GCEP (Classification - 08/06/2019). \r\nPMID: 23136403 - an assumed de novo missense (V94D) was identified in an Italian proband with arrhythmogenic right ventricular dysplasia. An inframe deletion (Leu765del) was identified in a proband with arrhythmogenic right ventricular dysplasia, and was also present in the proband's asymptomatic father and paternal aunt, who had mild right ventricular dilation on echocardiography and increased trabeculations in the right ventricular apex on MRI, respectively, as well as in the aunt's asymptomatic son. There was supporting in vitro functional assay evidence for both variants. PMID: 21254927 - a missense variant was found in one of 55 Danish ARVD patients, but was found 37 times in 276,338 (1 homozygous) reference alleles in gnomAD making it less likely as a causal variant. PMID: 22421363 - null mice exhibit progressive dilated cardiomyopathy, gap junction remodelling, and increased sensitivity to ventricular arrhythmia following acute ischaemia, but not spontaneous ARVC. \r\nPMID: 30415094 - a VUS identified in a sudden unexpected death case with slight LV hypertrophy. PMID: 31539150 - 2 VUS and a nonsense variant identified in 3 probands with atrial fibrillation, with the nonsense variant segregating in an affected first-degree relative. \nSources: Other","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2020-10-27T11:34:14.397730+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUS1 as ready","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-10-27T11:34:14.389789+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Green List (High Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-10-27T11:34:11.463663+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUS1 were changed from Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 to Epilepsy, myoclonus, ataxia and scoliosis; Mental retardation, autosomal dominant 55, with seizures, 617831","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-10-27T11:33:56.325671+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NUS1 as Green List (high evidence)","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-10-27T11:33:56.315002+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Green List (High Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-10-27T10:09:47.034940+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.263","user_name":"Elena Savva","item_type":"entity","text":"gene: NUS1 was added\ngene: NUS1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NUS1 were set to PMID: 31656175; 29100083\nPhenotypes for gene: NUS1 were set to Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831\nReview for gene: NUS1 was set to GREEN\nAdded comment: PMID: 31656175 - 2 unrelated patients with the same de novo splice variant and ataxia. Splice variant undergoes partial NMD.\r\n\r\nPMID: 29100083 - 3 unrelated patients w/ 2 PTCs and an inframe exon 2 deletion. Only 1/3 was reported to have ataxia \nSources: Literature","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-10-26T21:21:00.882996+11:00","panel_name":"Brain Channelopathies","panel_id":74,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADCY5 as ready","entity_name":"ADCY5","entity_type":"gene"},{"created":"2020-10-26T21:21:00.874580+11:00","panel_name":"Brain Channelopathies","panel_id":74,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adcy5 has been classified as Green List (High Evidence).","entity_name":"ADCY5","entity_type":"gene"},{"created":"2020-10-26T21:20:58.677214+11:00","panel_name":"Brain Channelopathies","panel_id":74,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADCY5 were changed from  to Dyskinesia, familial, with facial myokymia, MIM# 606703","entity_name":"ADCY5","entity_type":"gene"},{"created":"2020-10-26T21:20:25.234051+11:00","panel_name":"Brain Channelopathies","panel_id":74,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADCY5 were set to ","entity_name":"ADCY5","entity_type":"gene"},{"created":"2020-10-26T21:19:53.108953+11:00","panel_name":"Brain Channelopathies","panel_id":74,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ADCY5","entity_type":"gene"},{"created":"2020-10-26T21:19:21.049152+11:00","panel_name":"Brain Channelopathies","panel_id":74,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24700542, 22782511, 16537460; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ADCY5","entity_type":"gene"},{"created":"2020-10-26T20:56:58.873193+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2020-10-26T20:34:57.965723+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHH as ready","entity_name":"SHH","entity_type":"gene"},{"created":"2020-10-26T20:34:57.955525+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shh has been classified as Green List (High Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2020-10-26T20:34:06.594694+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHH were changed from  to Holoprosencephaly 3 (MIM#142945)","entity_name":"SHH","entity_type":"gene"},{"created":"2020-10-26T20:33:44.177358+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHH were set to ","entity_name":"SHH","entity_type":"gene"},{"created":"2020-10-26T20:33:14.084418+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHH","entity_type":"gene"},{"created":"2020-10-26T20:32:35.133706+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG8 as ready","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T20:32:35.125289+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog8 has been classified as Red List (Low Evidence).","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T20:32:30.423046+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COG8 as Red List (low evidence)","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T20:32:30.415259+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog8 has been classified as Red List (Low Evidence).","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T20:31:48.058086+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG8 as ready","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T20:31:48.047252+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog8 has been classified as Red List (Low Evidence).","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T20:31:42.539516+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COG8 as Red List (low evidence)","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T20:31:42.531809+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog8 has been classified as Red List (Low Evidence).","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T13:05:31.053342+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.45","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 22791840, 19057928; Phenotypes: 1. Holoprosencephaly 3 (MIM#142945), AD, 2. Microphthalmia with coloboma 5 (MIM#611638), AD, 3. Schizencephaly (MIM#269160), 4. Single median maxillary central incisor (MIM#147250) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHH","entity_type":"gene"},{"created":"2020-10-26T12:12:20.810506+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.69","user_name":"Elena Savva","item_type":"entity","text":"gene: COG8 was added\ngene: COG8 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG8 were set to PMID: 30690882\nPhenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182\nReview for gene: COG8 was set to RED\nAdded comment: PMID: 30690882: single patient with a homozygous splice COG8 variant, sibling was similarly affected but no DNA available. Patient displayed antenatal phenotype arthrogryposis multiplex congenita, Dandy Walker malformation and ventriculomegaly. \nSources: Literature","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-26T12:11:22.251293+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.238","user_name":"Elena Savva","item_type":"entity","text":"gene: COG8 was added\ngene: COG8 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG8 were set to PMID: 30690882\nPhenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh\t611182\nReview for gene: COG8 was set to RED\nAdded comment: PMID: 30690882: single patient with a homozygous splice COG8 variant, sibling was similarly affected but no DNA available. Patient displayed antenatal phenotype arthrogryposis multiplex congenita, Dandy Walker malformation and ventriculomegaly. \nSources: Literature","entity_name":"COG8","entity_type":"gene"},{"created":"2020-10-25T21:58:52.511175+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.894","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP1 were changed from Epileptic encephalopathy, early infantile, 4, MIM#612164 to Developmental and epileptic encephalopathy 4, MIM# 612164","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-10-25T21:58:20.340068+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.893","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STXBP1: Changed phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-10-25T21:58:00.273933+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP1 were changed from Epileptic encephalopathy, early infantile, 4\t612164; Rett syndrome; Rett-like phenotypes to Developmental and epileptic encephalopathy 4, MIM# 612164; Rett syndrome; Rett-like phenotypes","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-10-25T21:57:39.105197+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5137","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-10-25T21:57:02.793353+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STXBP1 as ready","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-10-25T21:57:02.784487+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stxbp1 has been classified as Green List (High Evidence).","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-10-25T21:56:34.120992+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP1 were changed from  to Developmental and epileptic encephalopathy 4, MIM# 612164","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-10-25T21:56:07.416308+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STXBP1 were set to ","entity_name":"STXBP1","entity_type":"gene"}]}