{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1079","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1077","results":[{"created":"2021-12-19T18:52:06.531091+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:51:37.952849+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP26B1 as ready","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:51:37.941522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp26b1 has been classified as Green List (High Evidence).","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:51:30.422097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10301","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP26B1 were changed from  to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:51:12.654364+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10300","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP26B1 were set to ","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:50:54.744143+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10299","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP26B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:50:37.436334+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10298","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:50:04.804458+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP26B1 were changed from 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:49:29.708687+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1437","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP26B1 as ready","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:49:29.697515+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1437","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp26b1 has been classified as Green List (High Evidence).","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:49:26.388311+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1437","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies,\t614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:49:13.695922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1436","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP26B1 were set to ","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:48:58.421326+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1435","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYP26B1 as Green List (high evidence)","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:48:58.405772+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1435","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp26b1 has been classified as Green List (High Evidence).","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:48:45.832759+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2021-12-19T18:47:21.101711+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYB5R3 as ready","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-12-19T18:47:21.090528+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb5r3 has been classified as Amber List (Moderate Evidence).","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-12-19T18:47:17.866268+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYB5R3 were changed from METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE to Methaemoglobinemia, type II, MIM# 250800","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-12-19T18:46:59.880533+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Methaemoglobinemia, type II, MIM# 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2021-12-19T18:44:15.980461+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUX2 as ready","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:44:15.961540+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cux2 has been classified as Red List (Low Evidence).","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:44:08.314304+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUX2 were changed from Developmental epileptic encephalopathy to Epileptic encephalopathy, early infantile, 67, MIM#618141","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:43:52.918806+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CUX2 were set to ","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:43:40.739445+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1431","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CUX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:43:17.278842+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUX2 as Red List (low evidence)","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:43:17.268742+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cux2 has been classified as Red List (Low Evidence).","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:43:06.097729+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:43:01.959883+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CUX2: Added comment: Onset in infancy but congenital abnormalities are not a feature.; Changed rating: RED","entity_name":"CUX2","entity_type":"gene"},{"created":"2021-12-19T18:35:58.879249+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTU2 as ready","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:35:58.869594+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctu2 has been classified as Green List (High Evidence).","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:35:49.737902+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTU2 were changed from  to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:35:32.507190+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10297","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTU2 were set to ","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:35:14.102622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10296","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:34:40.698609+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10295","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27480277, 26633546, 31301155; Phenotypes: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:31:48.111626+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:31:33.293337+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTU2 were set to ","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:31:21.863658+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTU2 as Green List (high evidence)","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:31:21.851399+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctu2 has been classified as Green List (High Evidence).","entity_name":"CTU2","entity_type":"gene"},{"created":"2021-12-19T18:30:41.022790+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTNND1 as ready","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-12-19T18:30:41.003007+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnd1 has been classified as Green List (High Evidence).","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-12-19T18:30:37.547741+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTNND1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 2, MIM# 617681","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-12-19T18:30:26.506952+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTNND1 were set to ","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-12-19T18:30:15.378586+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1424","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNND1 as Green List (high evidence)","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-12-19T18:30:15.367360+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1424","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnd1 has been classified as Green List (High Evidence).","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-12-19T18:29:28.916958+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.\r\n\r\nPMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).\r\n\r\nThis more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues. Unclear from description whether significant ID present. \nSources: Literature; to: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.\r\n\r\nPMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).\r\n\r\nThis more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues.\r\nSources: Literature","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-12-19T18:29:17.125923+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CTNND1: Changed rating: GREEN","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-12-19T18:27:27.940151+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNE as ready","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-12-19T18:27:27.930700+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrne has been classified as Green List (High Evidence).","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-12-19T18:27:19.233209+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHRNE as Green List (high evidence)","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-12-19T18:27:19.221108+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrne has been classified as Green List (High Evidence).","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-12-19T18:27:08.109631+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1422","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established association with congenital myasthenia, some individuals reported with arthrogryposis but cannot find specific reports of multiple pterygium syndrome.; to: Well established association with congenital myasthenia, some individuals reported with arthrogryposis.","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-12-19T18:26:58.912537+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1422","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CHRNE: Changed rating: GREEN","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-12-19T18:26:03.417113+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1422","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: CTDP1.","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:25:42.385941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10295","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTDP1 as ready","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:25:42.376196+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctdp1 has been classified as Green List (High Evidence).","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:25:34.674927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTDP1 were changed from  to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:25:16.693528+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTDP1 were set to ","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:24:59.159971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10293","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:24:35.503155+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10292","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: CTDP1.\nTag founder tag was added to gene: CTDP1.","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:24:21.588370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10292","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14517542, 24690360, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:14:21.673051+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1422","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTDP1 as ready","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:14:21.661040+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1422","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctdp1 has been classified as Green List (High Evidence).","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:14:17.879605+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1422","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:14:01.471751+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1421","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTDP1 were set to 20301787; 14517542; 24690360; 29174527","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:13:45.189055+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CTDP1.","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:13:37.413374+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTDP1 as Green List (high evidence)","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:13:37.404192+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctdp1 has been classified as Green List (High Evidence).","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-12-19T18:12:58.984274+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1419","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSTA as ready","entity_name":"CSTA","entity_type":"gene"},{"created":"2021-12-19T18:12:58.957443+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1419","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csta has been classified as Red List (Low Evidence).","entity_name":"CSTA","entity_type":"gene"},{"created":"2021-12-19T18:12:55.231874+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1419","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSTA were changed from EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE to Peeling skin syndrome 4, MIM# 607936","entity_name":"CSTA","entity_type":"gene"},{"created":"2021-12-19T18:12:40.806779+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSTA as Red List (low evidence)","entity_name":"CSTA","entity_type":"gene"},{"created":"2021-12-19T18:12:40.790564+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csta has been classified as Red List (Low Evidence).","entity_name":"CSTA","entity_type":"gene"},{"created":"2021-12-19T18:12:29.543585+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1417","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSTA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 4, MIM# 607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSTA","entity_type":"gene"},{"created":"2021-12-19T18:11:07.136182+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRIPT as ready","entity_name":"CRIPT","entity_type":"gene"},{"created":"2021-12-19T18:11:07.122493+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cript has been classified as Amber List (Moderate Evidence).","entity_name":"CRIPT","entity_type":"gene"},{"created":"2021-12-19T18:10:30.295387+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRIPT were set to ","entity_name":"CRIPT","entity_type":"gene"},{"created":"2021-12-19T18:09:14.171052+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRELD1 as ready","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:09:14.159082+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creld1 has been classified as Amber List (Moderate Evidence).","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:09:10.207282+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRELD1 were changed from HETEROTAXY SYNDROME to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:08:58.985296+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1415","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRELD1 were set to ","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:08:49.697660+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1414","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:08:27.280150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10292","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CRELD1 as Amber List (moderate evidence)","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:08:27.268224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creld1 has been classified as Amber List (Moderate Evidence).","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:08:09.664275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10291","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: CRELD1: Three families reported with heterozygous missense variants and heterotaxy phenotype. However, supporting evidence of pathogenicity for some of the variants is relatively weak.","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:07:55.405018+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10291","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CRELD1: Changed rating: AMBER","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-12-19T18:06:31.216566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CREB3L1 as ready","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2021-12-19T18:06:31.203550+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creb3l1 has been classified as Green List (High Evidence).","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2021-12-19T18:06:17.202971+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CREB3L1 were set to ","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2021-12-19T18:06:06.452840+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1412","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CREB3L1 as Green List (high evidence)","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2021-12-19T18:06:06.442518+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1412","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creb3l1 has been classified as Green List (High Evidence).","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2021-12-19T18:05:55.135490+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1411","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2021-12-19T17:49:37.119707+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1411","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRADD as ready","entity_name":"CRADD","entity_type":"gene"},{"created":"2021-12-19T17:49:37.109721+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cradd has been classified as Green List (High Evidence).","entity_name":"CRADD","entity_type":"gene"},{"created":"2021-12-19T17:49:27.408668+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1411","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499","entity_name":"CRADD","entity_type":"gene"},{"created":"2021-12-19T17:49:14.981113+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1410","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRADD were set to ","entity_name":"CRADD","entity_type":"gene"},{"created":"2021-12-19T17:49:01.478120+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1409","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CRADD as Green List (high evidence)","entity_name":"CRADD","entity_type":"gene"},{"created":"2021-12-19T17:49:01.467459+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1409","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cradd has been classified as Green List (High Evidence).","entity_name":"CRADD","entity_type":"gene"},{"created":"2021-12-19T17:47:54.364171+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1408","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HHAT as ready","entity_name":"HHAT","entity_type":"gene"},{"created":"2021-12-19T17:47:54.345178+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1408","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hhat has been classified as Green List (High Evidence).","entity_name":"HHAT","entity_type":"gene"},{"created":"2021-12-19T17:47:48.328576+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1408","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HHAT as Green List (high evidence)","entity_name":"HHAT","entity_type":"gene"}]}