{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1067","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1065","results":[{"created":"2021-12-31T15:30:58.262044+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1716","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX10 were changed from LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046","entity_name":"COX10","entity_type":"gene"},{"created":"2021-12-31T15:30:43.268682+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1715","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COX10 were set to ","entity_name":"COX10","entity_type":"gene"},{"created":"2021-12-31T15:30:31.740724+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1714","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COX10 as Amber List (moderate evidence)","entity_name":"COX10","entity_type":"gene"},{"created":"2021-12-31T15:30:31.730734+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1714","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox10 has been classified as Amber List (Moderate Evidence).","entity_name":"COX10","entity_type":"gene"},{"created":"2021-12-31T15:30:14.591491+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1713","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.; to: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.\r\n\r\nAt least one individual reported with severe HCM in neonatal period.","entity_name":"COX10","entity_type":"gene"},{"created":"2021-12-31T15:29:51.250137+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1713","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COX10: Changed rating: AMBER","entity_name":"COX10","entity_type":"gene"},{"created":"2021-12-31T15:28:33.827574+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1713","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COQ8A from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:27:17.044623+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1712","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COQ2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:25:20.230464+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1711","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"COQ2","entity_type":"gene"},{"created":"2021-12-31T15:24:54.045376+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1711","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COMP from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:24:03.823569+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COL9A3 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:23:27.421019+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1709","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COL5A2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:23:09.646816+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1708","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COL5A1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:19:04.155618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1707","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COL4A4 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:18:46.035130+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COL4A3 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:18:29.836583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1705","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COL25A1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:18:09.797410+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1704","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CHRNA4 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:17:30.653683+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1703","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLTC as ready","entity_name":"CLTC","entity_type":"gene"},{"created":"2021-12-31T15:17:30.642770+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1703","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cltc has been classified as Green List (High Evidence).","entity_name":"CLTC","entity_type":"gene"},{"created":"2021-12-31T15:17:25.622017+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1703","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLTC were changed from Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia to Mental retardation, autosomal dominant 56, MIM# 617854","entity_name":"CLTC","entity_type":"gene"},{"created":"2021-12-31T15:17:02.006604+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLTC were set to 33743358","entity_name":"CLTC","entity_type":"gene"},{"created":"2021-12-31T15:16:26.221492+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLTC as Green List (high evidence)","entity_name":"CLTC","entity_type":"gene"},{"created":"2021-12-31T15:16:26.201449+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cltc has been classified as Green List (High Evidence).","entity_name":"CLTC","entity_type":"gene"},{"created":"2021-12-31T15:16:13.812742+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1700","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLTC: Added comment: PMID 34230591: review of previously reported cases and report of 3 new cases, including one with prenatally ascertained brain and renal abnormalities.; Changed rating: GREEN; Changed publications: 29100083, 26822784, 34230591","entity_name":"CLTC","entity_type":"gene"},{"created":"2021-12-31T15:13:58.411772+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1700","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CHRNB2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:13:40.496826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1699","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CLN8 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:13:10.272850+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1698","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CLN6 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:12:45.484362+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1697","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CLN5 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:11:56.622484+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1696","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CLN3 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:10:49.244590+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1695","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CLDN19 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:09:49.784599+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1694","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CISD2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:09:19.141462+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1693","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Neurodegenerative disorder with hearing and visual impairment, but intellectual disability is not a feature.; to: Neurodegenerative disorder with hearing and visual impairment.","entity_name":"CISD2","entity_type":"gene"},{"created":"2021-12-31T15:08:54.104356+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1693","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CIB2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-31T15:08:13.388054+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1692","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA4 as ready","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2021-12-31T15:08:13.377714+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1692","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna4 has been classified as Red List (Low Evidence).","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2021-12-31T15:08:09.533895+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1692","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNA4 were changed from NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2021-12-31T15:07:56.386759+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1691","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNA4 were set to ","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2021-12-31T15:07:44.203315+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1690","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2021-12-31T15:07:31.248224+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1689","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID only reported in one family with this condition.; to: Post-natal onset.","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2021-12-31T15:06:28.285960+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1689","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRDL1 as ready","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-12-31T15:06:28.274655+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1689","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrdl1 has been classified as Red List (Low Evidence).","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-12-31T15:06:12.261223+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1689","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRDL1 were changed from MEGALOCORNEA, X-LINKED to Megalocornea 1, X-linked, MIM# 309300","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-12-31T15:05:56.055078+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1688","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRDL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalocornea 1, X-linked, MIM# 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-12-31T14:58:35.296314+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TECRL were set to 17666061; 27861123; 30790670","entity_name":"TECRL","entity_type":"gene"},{"created":"2021-12-31T14:57:59.151148+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33367594; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TECRL","entity_type":"gene"},{"created":"2021-12-31T14:57:15.396600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10428","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TECRL as ready","entity_name":"TECRL","entity_type":"gene"},{"created":"2021-12-31T14:57:15.387444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecrl has been classified as Green List (High Evidence).","entity_name":"TECRL","entity_type":"gene"},{"created":"2021-12-31T14:57:04.825398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10428","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TECRL as Green List (high evidence)","entity_name":"TECRL","entity_type":"gene"},{"created":"2021-12-31T14:57:04.814756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecrl has been classified as Green List (High Evidence).","entity_name":"TECRL","entity_type":"gene"},{"created":"2021-12-31T14:56:46.956612+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10427","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TECRL was added\ngene: TECRL was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECRL were set to 17666061; 27861123; 30790670; 33367594\nPhenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM#\t614021\nReview for gene: TECRL was set to GREEN\nAdded comment: DEFINITIVE by ClinGen\r\nHomozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence. \r\n- 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)\r\n- 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)\r\n- 30790670 reported in a single family with one child with features of CPVT\r\n-A multi-centre review published in 2020 provided an update on these cases and described two additional CPVT cases (homozygous p.Tyr197Ter nonsense variant and homozygous exon 2 deletion) and a family with three children with sudden cardiac death, where one was homozygous for the c.331+1G>A splice donor variant, PMID 33367594 \nSources: Expert Review","entity_name":"TECRL","entity_type":"gene"},{"created":"2021-12-31T12:14:09.038676+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10426","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: KEL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes","entity_name":"KEL","entity_type":"gene"},{"created":"2021-12-31T11:59:08.535255+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1688","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Post-natal onset.; to: Post-natal onset for DDE.\r\n\r\nAssociation with ARVC rated LIMITED by ClinGen.","entity_name":"CHD2","entity_type":"gene"},{"created":"2021-12-31T11:58:17.675067+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1688","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD2 as ready","entity_name":"CHD2","entity_type":"gene"},{"created":"2021-12-31T11:58:17.662500+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1688","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd2 has been classified as Red List (Low Evidence).","entity_name":"CHD2","entity_type":"gene"},{"created":"2021-12-31T11:58:13.890580+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1688","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD2 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 94, MIM# 615369","entity_name":"CHD2","entity_type":"gene"},{"created":"2021-12-31T11:57:59.707211+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1687","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD2","entity_type":"gene"},{"created":"2021-12-31T11:57:46.073999+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1686","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 94, MIM# 615369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD2","entity_type":"gene"},{"created":"2021-12-30T20:53:59.155863+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1686","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCNO as ready","entity_name":"CCNO","entity_type":"gene"},{"created":"2021-12-30T20:53:59.144699+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1686","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccno has been classified as Red List (Low Evidence).","entity_name":"CCNO","entity_type":"gene"},{"created":"2021-12-30T20:53:53.789834+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1686","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCNO were changed from CILIARY DYSKINESIA, PRIMARY, 29 to Ciliary dyskinesia, primary, 29 615872","entity_name":"CCNO","entity_type":"gene"},{"created":"2021-12-30T20:53:39.970585+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1685","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCNO were set to 30166424","entity_name":"CCNO","entity_type":"gene"},{"created":"2021-12-30T20:52:47.567253+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC65 as Red List (low evidence)","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:52:47.556298+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc65 has been classified as Red List (Low Evidence).","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:52:24.312313+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.\r\n\r\nSitus inversus not reported.","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:52:14.432571+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CCDC65: Changed rating: RED","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:51:45.755319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1684","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC65 as ready","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:51:45.743855+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1684","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc65 has been classified as Red List (Low Evidence).","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:51:41.427840+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1684","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC65 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 27, MIM# 615504","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:51:28.457290+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1683","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC65 were set to 30166424","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:51:12.976339+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1682","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.\r\n\r\nSitus inversus not reported.","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:51:01.465856+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1682","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CCDC65: Changed rating: RED","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-12-30T20:49:56.991495+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC115 as ready","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:49:56.972920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc115 has been classified as Green List (High Evidence).","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:49:48.694377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC115 were changed from  to Congenital disorder of glycosylation, type IIo (MIM# 616828)","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:49:25.143532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10425","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC115 were set to ","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:49:04.313407+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10424","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CCDC115 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:48:03.697223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10423","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:47:20.614729+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1682","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC115 as ready","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:47:20.602837+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1682","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc115 has been classified as Red List (Low Evidence).","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:47:09.395896+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1682","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC115 were changed from Disorder of Golgi homeostasis to Congenital disorder of glycosylation, type IIo, MIM# 616828","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:45:53.839665+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1681","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC115 were set to ","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:45:39.514957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1680","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC115: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIo, MIM# 616828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-12-30T20:44:06.228551+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1680","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CC2D1A as ready","entity_name":"CC2D1A","entity_type":"gene"},{"created":"2021-12-30T20:44:06.217732+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1680","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cc2d1a has been classified as Red List (Low Evidence).","entity_name":"CC2D1A","entity_type":"gene"},{"created":"2021-12-30T20:43:59.760647+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1680","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CC2D1A were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 to Mental retardation, autosomal recessive 3, MIM# 608443","entity_name":"CC2D1A","entity_type":"gene"},{"created":"2021-12-30T20:43:47.026655+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1679","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CC2D1A were set to ","entity_name":"CC2D1A","entity_type":"gene"},{"created":"2021-12-30T20:43:22.711763+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1678","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CC2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 3, MIM# 608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CC2D1A","entity_type":"gene"},{"created":"2021-12-30T20:41:48.787277+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1678","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBS as ready","entity_name":"CBS","entity_type":"gene"},{"created":"2021-12-30T20:41:48.776843+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1678","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbs has been classified as Red List (Low Evidence).","entity_name":"CBS","entity_type":"gene"},{"created":"2021-12-30T20:41:42.294273+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1678","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBS were changed from CYSTATHIONINE BETA-SYNTHASE DEFICIENCY to Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200","entity_name":"CBS","entity_type":"gene"},{"created":"2021-12-30T20:41:26.766264+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1677","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBS","entity_type":"gene"},{"created":"2021-12-30T20:40:01.906804+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1677","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAVIN1 as ready","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-12-30T20:40:01.894748+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1677","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cavin1 has been classified as Red List (Low Evidence).","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-12-30T20:39:55.445717+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1677","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4  613327 to Lipodystrophy, congenital generalized, type 4 , MIM# 613327","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-12-30T20:39:40.165623+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1676","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAVIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-12-30T20:37:09.567450+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1676","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CALCRL as ready","entity_name":"CALCRL","entity_type":"gene"},{"created":"2021-12-30T20:37:09.557178+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1676","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calcrl has been classified as Red List (Low Evidence).","entity_name":"CALCRL","entity_type":"gene"},{"created":"2021-12-30T20:36:16.146540+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1676","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAD as ready","entity_name":"CAD","entity_type":"gene"},{"created":"2021-12-30T20:36:16.135338+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1676","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cad has been classified as Red List (Low Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2021-12-30T20:36:12.572224+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1676","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAD were changed from Uridine-responsive epileptic encephalopathy to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457","entity_name":"CAD","entity_type":"gene"}]}