{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1324","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1322","results":[{"created":"2021-05-13T09:32:06.067570+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1081","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 4 unrelated families reported.; to: At least 4 unrelated families reported, dominant negative mechanism postulated.","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2021-05-13T09:05:45.485226+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Restrictive cardiomyopathy","entity_name":"MCM10","entity_type":"gene"},{"created":"2021-05-13T09:05:31.922700+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCM10 were changed from Susceptibility to CMV to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Susceptibility to CMV","entity_name":"MCM10","entity_type":"gene"},{"created":"2021-05-13T09:05:27.479601+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Restrictive cardiomyopathy","entity_name":"MCM10","entity_type":"gene"},{"created":"2021-05-13T09:04:56.567661+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Susceptibility to CMV","entity_name":"MCM10","entity_type":"gene"},{"created":"2021-05-13T09:04:19.058993+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7612","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCM10 were changed from Susceptibility to CMV; Restrictive cardiomyopathy to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Susceptibility to CMV; Restrictive cardiomyopathy","entity_name":"MCM10","entity_type":"gene"},{"created":"2021-05-13T09:03:50.949565+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7611","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Susceptibility to CMV, Restrictive cardiomyopathy","entity_name":"MCM10","entity_type":"gene"},{"created":"2021-05-13T07:38:53.448925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7611","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR3C2 as ready","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:38:53.434650+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7611","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr3c2 has been classified as Green List (High Evidence).","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:38:44.175103+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7611","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR3C2 were changed from  to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:38:21.767639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7610","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR3C2 were set to ","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:37:54.544573+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7609","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR3C2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:37:32.765122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7608","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662404, 11134129, 11344206, 12788847, 16972228; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735, MONDO:0008329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:36:34.619757+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR3C2 as ready","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:36:34.607773+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr3c2 has been classified as Green List (High Evidence).","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:36:29.053756+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR3C2 were changed from  to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:36:02.406713+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR3C2 were set to ","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:35:30.257408+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR3C2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:34:56.540784+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NR3C2: Changed phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735, MONDO:0008329","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:33:55.800903+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.\r\n\r\nWell established gene-disease association, over 50 unrelated families reported.; to: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.\r\n\r\nWell established gene-disease association, over 50 unrelated families reported. Most reported variants are LoF.","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:33:40.840406+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662404, 11134129, 11344206, 12788847, 16972228; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR3C2","entity_type":"gene"},{"created":"2021-05-13T07:30:43.414670+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNN1A were changed from Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021) to Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021); MONDO:0013087","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:30:06.830225+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCNN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:29:45.201330+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCNN1A as Amber List (moderate evidence)","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:29:45.187141+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1a has been classified as Amber List (Moderate Evidence).","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:29:14.971842+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCNN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19462466; Phenotypes: Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021, MONDO:0013087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:25:47.712614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7608","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNN1A as ready","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:25:47.700611+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1a has been classified as Green List (High Evidence).","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:25:35.158542+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7608","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNN1A were changed from  to Liddle syndrome 3 618126, MIM# AD, MONDO:0029132; Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087; Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:25:14.679832+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7607","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCNN1A were set to ","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:24:55.906033+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7606","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCNN1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-13T07:24:36.593344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7605","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31301676, 28710092, 19462466, 19017867; Phenotypes: Liddle syndrome 3 618126, MIM# AD, MONDO:0029132, Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087, Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2021-05-12T20:53:04.496680+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7605","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPTLC1 as ready","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2021-05-12T20:53:04.483033+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7605","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sptlc1 has been classified as Green List (High Evidence).","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2021-05-12T20:52:57.396323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7605","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTLC1 were changed from  to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2021-05-12T20:52:32.851999+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7604","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPTLC1 were set to ","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2021-05-12T20:52:15.317273+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7603","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPTLC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2021-05-12T20:48:15.168002+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7602","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPTLC2 as ready","entity_name":"SPTLC2","entity_type":"gene"},{"created":"2021-05-12T20:48:15.157061+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7602","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sptlc2 has been classified as Green List (High Evidence).","entity_name":"SPTLC2","entity_type":"gene"},{"created":"2021-05-12T20:48:07.255788+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7602","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTLC2 were changed from  to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)","entity_name":"SPTLC2","entity_type":"gene"},{"created":"2021-05-12T20:47:42.785157+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7601","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPTLC2 were set to ","entity_name":"SPTLC2","entity_type":"gene"},{"created":"2021-05-12T20:47:18.283830+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7600","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPTLC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPTLC2","entity_type":"gene"},{"created":"2021-05-12T20:31:24.422741+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7599","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: ZPR1.","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-05-12T20:31:14.095859+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7599","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZPR1 as ready","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-05-12T20:31:14.085750+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7599","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zpr1 has been classified as Red List (Low Evidence).","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-05-12T20:31:02.271430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7599","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZPR1 was added\ngene: ZPR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZPR1 were set to 29851065\nPhenotypes for gene: ZPR1 were set to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies\t619321\nReview for gene: ZPR1 was set to RED\nAdded comment: 3 families reported with growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF). All were Hispanic families from the middle Rio Grande Valley. Homozygous missense identified in one family, p. Ile196Thr. Others unavailable for testing, founder effect postulated. \nSources: Literature","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-05-12T20:25:16.283546+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3763","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPEN were set to 33057194","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-05-12T20:24:46.177393+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3762","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPEN were changed from Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-05-12T20:24:00.581978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7598","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEN as ready","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-05-12T20:24:00.572359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7598","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spen has been classified as Green List (High Evidence).","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-05-12T19:34:04.409341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7598","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPEN were changed from Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-05-12T19:33:49.819054+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7597","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPEN were set to 33057194","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-05-12T19:33:20.813032+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7596","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Radio-Tartaglia syndrome, MIM# 619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-05-12T19:31:47.308046+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF3 as ready","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:31:47.295361+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:31:39.409216+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AFF3 as Green List (high evidence)","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:31:39.399864+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:31:08.879607+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AFF3 was added\ngene: AFF3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AFF3 were set to 31388108; 33961779\nPhenotypes for gene: AFF3 were set to KINSSHIP syndrome, MIM# 619297\nReview for gene: AFF3 was set to GREEN\nAdded comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.\r\n\r\nAll probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4. \nSources: Literature","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:29:27.095813+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF3 as ready","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:29:27.084839+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:29:21.601123+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AFF3 as Green List (high evidence)","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:29:21.591414+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:28:20.013298+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AFF3 was added\ngene: AFF3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AFF3 were set to 31388108; 33961779\nPhenotypes for gene: AFF3 were set to KINSSHIP syndrome, MIM# 619297\nReview for gene: AFF3 was set to GREEN\nAdded comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.\r\n\r\nAll probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4. \nSources: Literature","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:26:49.830356+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF3 as ready","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:26:49.813486+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:26:46.330478+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF3 were changed from No OMIM or G2P phenotype to KINSSHIP syndrome, MIM# 619297","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:26:19.840200+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF3 were set to ","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:25:53.744807+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:25:12.795098+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AFF3 as Green List (high evidence)","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:25:12.784609+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:24:48.461831+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:24:02.946519+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3761","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF3 as ready","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:24:02.932805+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:23:58.426849+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3761","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF3 were changed from  to KINSSHIP syndrome, MIM# 619297","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:23:25.098870+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3760","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF3 were set to ","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:22:50.304546+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3759","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:22:18.062851+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3758","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:21:19.191231+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1081","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF3 were changed from Intellectual disability; seizures; hypertrichosis to KINSSHIP syndrome, MIM# 619297; Intellectual disability; seizures; hypertrichosis","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:20:40.346468+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF3 were set to ","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:20:04.343712+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1079","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AFF3: Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.\r\n\r\nAll probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.; Changed publications: 31388108, 33961779; Changed phenotypes: KINSSHIP syndrome, MIM# 619297, Intellectual disability, seizures, hypertrichosis","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:19:07.448983+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7596","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF3 as ready","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:19:07.437058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7596","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:18:56.407145+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7596","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF3 were changed from  to KINSSHIP syndrome, MIM# 619297","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:18:38.167128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7595","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF3 were set to ","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:18:16.661021+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7594","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:17:54.567812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7593","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:16:53.285771+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF3 as ready","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:16:53.276395+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:16:41.035663+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF3 were changed from  to KINSSHIP syndrome, MIM# 619297","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:15:48.357782+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF3 were set to ","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:14:22.478117+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T19:13:56.504421+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-05-12T16:57:28.292499+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090 to Myopathic EDS; Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090","entity_name":"COL6A2","entity_type":"gene"},{"created":"2021-05-12T16:57:00.745040+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL6A2 were set to (PMID: 29277723; 24443028)","entity_name":"COL6A2","entity_type":"gene"},{"created":"2021-05-12T16:56:21.576538+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL6A2 as Red List (low evidence)","entity_name":"COL6A2","entity_type":"gene"},{"created":"2021-05-12T16:56:21.565832+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col6a2 has been classified as Red List (Low Evidence).","entity_name":"COL6A2","entity_type":"gene"},{"created":"2021-05-12T16:55:46.807612+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL6A2: Rating: RED; Mode of pathogenicity: None; Publications: 31273343; Phenotypes: Myopathic EDS; Mode of inheritance: None","entity_name":"COL6A2","entity_type":"gene"},{"created":"2021-05-11T21:04:29.318004+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7593","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDR as ready","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:04:29.308144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdr has been classified as Green List (High Evidence).","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:04:21.201662+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7593","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDR were changed from  to Pulmonary hypertension; Haemangioma, capillary infantile, somatic 602089","entity_name":"KDR","entity_type":"gene"}]}