{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1082","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1080","results":[{"created":"2021-12-16T16:37:33.159479+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZBTB18 were changed from ZBTB18 syndrome to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2021-12-16T16:37:13.415825+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZBTB18 were set to ","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2021-12-16T16:37:01.508589+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZBTB18 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2021-12-16T16:36:47.907512+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1383","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2021-12-16T16:35:14.950097+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4374","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZBTB20 as ready","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:35:14.940170+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb20 has been classified as Green List (High Evidence).","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:35:09.613535+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4374","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZBTB20 were changed from  to Primrose syndrome, MIM# 259050","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:34:35.012322+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4373","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZBTB20 were set to ","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:34:07.936548+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4372","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZBTB20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:32:30.314478+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4371","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:31:55.412264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10260","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZBTB20 as ready","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:31:55.401888+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10260","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb20 has been classified as Green List (High Evidence).","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:31:47.341352+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10260","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZBTB20 were changed from  to Primrose syndrome, MIM# 259050","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:31:28.699169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10259","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZBTB20 were set to ","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:31:03.290394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10258","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZBTB20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:30:43.451988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10257","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:30:09.130367+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1383","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZBTB20 as ready","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:30:09.119298+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb20 has been classified as Green List (High Evidence).","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:30:05.464423+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1383","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZBTB20 were changed from PRIMROSE SYNDROME to Primrose syndrome, MIM# 259050","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:29:52.460723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1382","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZBTB20 were set to ","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:29:40.549768+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1381","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:29:27.942659+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1380","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T16:21:40.590466+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1380","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFP57 as ready","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-12-16T16:21:40.580199+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfp57 has been classified as Green List (High Evidence).","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-12-16T16:21:36.328720+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1380","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFP57 were changed from DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL to Diabetes mellitus, transient neonatal 1, OMIM #601410","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-12-16T16:21:19.776201+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1379","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZFP57 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-12-16T16:20:39.664818+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1378","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZIC2 as ready","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T16:20:39.654235+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1378","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zic2 has been classified as Green List (High Evidence).","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T16:20:36.763663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1378","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637; MONDO:0012322 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T16:20:36.183241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1378","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T16:20:07.300026+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1377","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZIC2 were set to 20531442","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T16:18:16.928756+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1375","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZIC2 were changed from HOLOPROSENCEPHALY to Holoprosencephaly 5, OMIM #609637","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T16:18:05.544156+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1374","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZIC2 were set to ","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T16:17:55.187770+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1373","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZIC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T16:03:04.275504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10257","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Luxan 2013 (PMID: 23314057): \r\n- V943F, seg with LVNC in 1 fam, (gnomADv2: 43 hets). \r\n- R530X, seg with LVNC in 1 fam, (gv2: 13 hets).\r\n\r\nLi 2018 (PMID: 30322850): \r\n- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).\r\n- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.\r\n- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.\r\n\r\nDCM-association = none by Clingen (9/4/2020), ref Luxan 2013 and other pprs, and mentioned gnomAD had too many LoF variants.\r\n\r\nDe Ligt 2012 (PMID: 23033978): de novo R174H (gnomADv2: 7 hets), indvl with severe ID who also has a de novo R47* in WAC (an AD ID gene with LoF established, variant is P in ClinVar), no other pt-specific pheno provided.\r\n\r\nKaplanis 2021 (PMID: 33057194): Developmental disorders paper.\r\n- 2 missense variants, de novo: 18-19383967-G-A (p.Glu491Lys, gv2 1 het, gv3 absent, GeneDx), 18-19378124-C-T (Thr391Ile, gv2v3 absent, DDD, de novo, no mention of heart pheno).\r\n- Of 6 PTVs, 4 had at least 10 hets each in gnomADv2.; to: Luxan 2013 (PMID: 23314057): \r\n- V943F, seg with LVNC in 1 fam, (gnomADv2: 43 hets). \r\n- R530X, seg with LVNC in 1 fam, (gv2: 13 hets).\r\n\r\nLi 2018 (PMID: 30322850): \r\n- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).\r\n- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.\r\n- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.\r\n\r\nDCM-association = none by Clingen (9/4/2020), ref Luxan 2013 and other pprs, and mentioned gnomAD had too many LoF variants.\r\n\r\nDe Ligt 2012 (PMID: 23033978): de novo R174H (gnomADv2: 7 hets), indvl with severe ID who also has a de novo R47* in WAC (an AD ID gene with LoF established, variant is P in ClinVar), no other pt-specific pheno provided.\r\n\r\nKaplanis 2021 (PMID: 33057194): Developmental disorders paper.\r\n- 2 missense variants, de novo: 18-19383967-G-A (p.Glu491Lys, gv2 1 het, gv3 absent), 18-19378124-C-T (Thr391Ile, gv2v3 absent, DDD, de novo, no mention of heart pheno).\r\n- Of 6 PTVs, 4 had at least 10 hets each in gnomADv2.","entity_name":"MIB1","entity_type":"gene"},{"created":"2021-12-16T16:02:30.831664+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10257","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057, 30322850, 23033978, 33057194; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MIB1","entity_type":"gene"},{"created":"2021-12-16T15:34:48.481993+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ZBTB18 syndrome, Intellectual disability, microcephaly, corpus callosum abnormalities, OMIM #612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2021-12-16T15:26:48.631793+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primrose syndrome OMIM # 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-12-16T15:19:08.485922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal 1, OMIM #601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-12-16T15:11:10.566425+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20531442; Phenotypes: Holoprosencephaly 5, OMIM #609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-12-16T13:59:52.566904+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL12A1 as ready","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:59:52.557607+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col12a1 has been classified as Green List (High Evidence).","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:59:40.520708+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL12A1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:59:23.701923+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL12A1: Changed phenotypes: Ullrich congenital muscular dystrophy 2, 616470, Bethlem myopathy 2, 616471","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:59:05.332146+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1372","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL12A1 were changed from ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:58:52.735233+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1371","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL12A1 were set to ","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:56:29.190914+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1370","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL12A1 as Green List (high evidence)","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:56:29.180159+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1370","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col12a1 has been classified as Green List (High Evidence).","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:56:14.699920+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1369","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604, 24334769, 21670218; Phenotypes: Bethlem myopathy 2, MIM# 616471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL12A1","entity_type":"gene"},{"created":"2021-12-16T13:53:33.470861+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1369","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG6 as ready","entity_name":"COG6","entity_type":"gene"},{"created":"2021-12-16T13:53:33.454674+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog6 has been classified as Green List (High Evidence).","entity_name":"COG6","entity_type":"gene"},{"created":"2021-12-16T13:53:20.648093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1369","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COG6 as Green List (high evidence)","entity_name":"COG6","entity_type":"gene"},{"created":"2021-12-16T13:53:20.637275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog6 has been classified as Green List (High Evidence).","entity_name":"COG6","entity_type":"gene"},{"created":"2021-12-16T13:53:05.773898+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1368","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is part of the phenotype.; to: IUGR and microcephaly are a feature.","entity_name":"COG6","entity_type":"gene"},{"created":"2021-12-16T13:51:33.541032+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1368","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG5 as ready","entity_name":"COG5","entity_type":"gene"},{"created":"2021-12-16T13:51:33.528861+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1368","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog5 has been classified as Green List (High Evidence).","entity_name":"COG5","entity_type":"gene"},{"created":"2021-12-16T13:51:26.734320+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1368","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COG5 were set to ","entity_name":"COG5","entity_type":"gene"},{"created":"2021-12-16T13:51:10.711587+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1367","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COG5 as Green List (high evidence)","entity_name":"COG5","entity_type":"gene"},{"created":"2021-12-16T13:51:10.700657+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1367","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog5 has been classified as Green List (High Evidence).","entity_name":"COG5","entity_type":"gene"},{"created":"2021-12-16T13:50:55.281062+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1366","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 5 unrelated families reported, ID is a consistent feature.; to: More than 5 unrelated families reported, microcephaly reported.","entity_name":"COG5","entity_type":"gene"},{"created":"2021-12-16T13:45:08.552800+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1366","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH1A2 as ready","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-12-16T13:45:08.538693+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1366","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh1a2 has been classified as Green List (High Evidence).","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-12-16T13:45:02.476606+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1366","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH1A2 as Green List (high evidence)","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-12-16T13:45:02.456139+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1366","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh1a2 has been classified as Green List (High Evidence).","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-12-16T13:44:31.813570+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1365","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS19 as ready","entity_name":"ADAMTS19","entity_type":"gene"},{"created":"2021-12-16T13:44:31.795865+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1365","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts19 has been classified as Green List (High Evidence).","entity_name":"ADAMTS19","entity_type":"gene"},{"created":"2021-12-16T13:44:25.615487+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1365","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAMTS19 as Green List (high evidence)","entity_name":"ADAMTS19","entity_type":"gene"},{"created":"2021-12-16T13:44:25.602665+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1365","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts19 has been classified as Green List (High Evidence).","entity_name":"ADAMTS19","entity_type":"gene"},{"created":"2021-12-16T13:43:51.282306+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1364","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC12 as ready","entity_name":"TTC12","entity_type":"gene"},{"created":"2021-12-16T13:43:51.271765+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1364","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc12 has been classified as Red List (Low Evidence).","entity_name":"TTC12","entity_type":"gene"},{"created":"2021-12-16T13:43:44.379434+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1364","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TTC12 as Red List (low evidence)","entity_name":"TTC12","entity_type":"gene"},{"created":"2021-12-16T13:43:44.369832+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1364","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc12 has been classified as Red List (Low Evidence).","entity_name":"TTC12","entity_type":"gene"},{"created":"2021-12-16T13:43:09.590635+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1363","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TP73 as ready","entity_name":"TP73","entity_type":"gene"},{"created":"2021-12-16T13:43:09.578251+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp73 has been classified as Green List (High Evidence).","entity_name":"TP73","entity_type":"gene"},{"created":"2021-12-16T13:43:04.395905+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1363","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TP73 as Green List (high evidence)","entity_name":"TP73","entity_type":"gene"},{"created":"2021-12-16T13:43:04.384926+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp73 has been classified as Green List (High Evidence).","entity_name":"TP73","entity_type":"gene"},{"created":"2021-12-16T13:42:29.794735+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1362","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEF2 as ready","entity_name":"SPEF2","entity_type":"gene"},{"created":"2021-12-16T13:42:29.780849+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spef2 has been classified as Red List (Low Evidence).","entity_name":"SPEF2","entity_type":"gene"},{"created":"2021-12-16T13:42:22.255020+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1362","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPEF2 as Red List (low evidence)","entity_name":"SPEF2","entity_type":"gene"},{"created":"2021-12-16T13:42:22.245254+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spef2 has been classified as Red List (Low Evidence).","entity_name":"SPEF2","entity_type":"gene"},{"created":"2021-12-16T12:13:45.445190+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1361","user_name":"Krithika Murali","item_type":"entity","text":"gene: ALDH1A2 was added\ngene: ALDH1A2 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH1A2 were set to 33565183; 19886994; 10192400\nPhenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; thymus aplasia\nReview for gene: ALDH1A2 was set to GREEN\nAdded comment: Biallellic variants in two unrelated, non-consanguineous families associated with multiple anomalies - including congenital heart disease, eventration of the diaphragm/diaphragmatic hernia, pulmonary hypoplasia dysmorphic features, thymus aplasia - a number of which were detected antenatally.  Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due to in utero defects in early heart morphogenesis. \nSources: Expert list, Literature","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-12-16T12:00:46.354206+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1361","user_name":"Krithika Murali","item_type":"entity","text":"gene: ADAMTS19 was added\ngene: ADAMTS19 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS19 were set to 32323311; 31844321\nPhenotypes for gene: ADAMTS19 were set to Heart valve disease (HVD)\nReview for gene: ADAMTS19 was set to GREEN\nAdded comment: PMID 32323311 reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies.\r\n\r\nPreviously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype \nSources: Expert list, Literature","entity_name":"ADAMTS19","entity_type":"gene"},{"created":"2021-12-16T11:54:26.742273+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1361","user_name":"Krithika Murali","item_type":"entity","text":"gene: TTC12 was added\ngene: TTC12 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC12 were set to 31978331\nPhenotypes for gene: TTC12 were set to Ciliary dyskinesia, primary, 45 - MIM#618801\nReview for gene: TTC12 was set to RED\nAdded comment: Four unrelated families reported, LoF variants, respiratory phenotype. \nSources: Literature","entity_name":"TTC12","entity_type":"gene"},{"created":"2021-12-16T11:50:49.709670+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1361","user_name":"Krithika Murali","item_type":"entity","text":"gene: TP73 was added\ngene: TP73 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP73 were set to 31130284; 34077761\nPhenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly - MIM# 619466\nReview for gene: TP73 was set to GREEN\nAdded comment: 7 unrelated families reported. In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls.\r\n\r\nClinical features included recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also had neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. \nSources: Literature","entity_name":"TP73","entity_type":"gene"},{"created":"2021-12-16T11:29:33.040679+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1361","user_name":"Krithika Murali","item_type":"entity","text":"gene: SPEF2 was added\ngene: SPEF2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643\nPhenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype\nReview for gene: SPEF2 was set to RED\nAdded comment: Biallelic variants associated with sperm morphological abnormalities.  In some individuals recurrent sinopulmonary infections and bronchiectasis noted consistent with PCD-like phenotype.  Mouse model showed infertility phenotype, hydrocephalus, sinusitis.  No fetal phenotype reported. \nSources: Literature","entity_name":"SPEF2","entity_type":"gene"},{"created":"2021-12-15T18:33:07.426001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10257","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABO as ready","entity_name":"ABO","entity_type":"gene"},{"created":"2021-12-15T18:33:07.416900+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10257","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abo has been classified as Red List (Low Evidence).","entity_name":"ABO","entity_type":"gene"},{"created":"2021-12-15T18:32:53.688782+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10257","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABO were changed from  to [Blood group, ABO system] MIM#616093","entity_name":"ABO","entity_type":"gene"},{"created":"2021-12-15T18:32:34.539503+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10256","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABO as Red List (low evidence)","entity_name":"ABO","entity_type":"gene"},{"created":"2021-12-15T18:32:34.530127+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10256","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abo has been classified as Red List (Low Evidence).","entity_name":"ABO","entity_type":"gene"},{"created":"2021-12-15T18:32:03.777115+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TLR1 as ready","entity_name":"TLR1","entity_type":"gene"},{"created":"2021-12-15T18:32:03.767432+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr1 has been classified as Red List (Low Evidence).","entity_name":"TLR1","entity_type":"gene"},{"created":"2021-12-15T18:31:55.568355+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10255","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TLR1 were changed from  to Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223","entity_name":"TLR1","entity_type":"gene"},{"created":"2021-12-15T18:31:34.950621+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10254","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TLR1 as Red List (low evidence)","entity_name":"TLR1","entity_type":"gene"},{"created":"2021-12-15T18:31:34.939145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr1 has been classified as Red List (Low Evidence).","entity_name":"TLR1","entity_type":"gene"},{"created":"2021-12-15T18:30:57.523460+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: REL were changed from Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity to Immunodeficiency 92, MIM# 619652; Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity","entity_name":"REL","entity_type":"gene"},{"created":"2021-12-15T18:30:29.764289+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: REL were set to 31103457","entity_name":"REL","entity_type":"gene"},{"created":"2021-12-15T18:30:08.039625+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: REL as Amber List (moderate evidence)","entity_name":"REL","entity_type":"gene"},{"created":"2021-12-15T18:30:08.029756+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rel has been classified as Amber List (Moderate Evidence).","entity_name":"REL","entity_type":"gene"},{"created":"2021-12-15T18:29:46.628081+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: REL as Amber List (moderate evidence)","entity_name":"REL","entity_type":"gene"}]}