{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1132","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1130","results":[{"created":"2021-11-12T10:10:37.995999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9710","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDON were changed from  to Holoprosencephaly 11, MIM# 614226; MONDO:0013642","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:10:15.779642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9709","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDON were set to ","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:09:54.308952+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9708","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:09:35.381068+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9707","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.; to: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.\r\n\r\nNote single report of bi-allelic variants in association with coloboma: PMID 32729136","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:08:44.484661+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9707","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:07:49.731425+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.412","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDON as ready","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:07:49.720840+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.412","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdon has been classified as Green List (High Evidence).","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:07:46.459758+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.412","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDON were changed from HOLOPROSENCEPHALY 11 to Holoprosencephaly 11, MIM# 614226; MONDO:0013642","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:07:35.040108+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.411","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDON were set to ","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:07:17.319827+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.410","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:05:39.235759+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.410","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN1C as ready","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-11-12T10:05:39.208724+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.410","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn1c has been classified as Green List (High Evidence).","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-11-12T10:05:35.381632+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.410","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDKN1C were changed from IMAGe Syndrome; BECKWITH-WIEDEMANN SYNDROME to Beckwith-Wiedemann syndrome, MIM# 130650; IMAGe syndrome, MIM# 614732; Silver-Russell syndrome","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-11-12T10:05:20.419554+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.409","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDKN1C were set to ","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-11-12T10:05:04.488438+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.408","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-11-12T10:05:00.606361+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.408","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CDKN1C: Added comment: LoF variants in this gene cause overgrowth and BWS.\r\n\r\nIMAGe syndrome: reported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved \"hot-spot\" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.\r\n\r\nCan present antenatally with macrosomia/IUGR respectively.; Changed rating: GREEN; Changed publications: 10424811, 8841187, 22205991, 20503313, 19843502, 15372379, 23511928, 30794780, 33076988, 31976094, 31497289; Changed phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650, IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2021-11-12T10:03:05.649592+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1393","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKL5 as ready","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:03:05.639399+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl5 has been classified as Green List (High Evidence).","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:02:58.313475+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1393","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDKL5 were changed from  to Developmental and epileptic encephalopathy 2, MIM# 300672","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:02:21.868425+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1392","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDKL5 were set to ","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:01:53.397755+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1391","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:01:23.214853+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1390","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:00:36.180617+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4266","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKL5 as ready","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:00:36.169440+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl5 has been classified as Green List (High Evidence).","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:00:32.646782+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4266","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDKL5 were changed from  to Developmental and epileptic encephalopathy 2, MIM# 300672","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T10:00:05.110720+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4265","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDKL5 were set to ","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:59:31.543830+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4264","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:58:55.725125+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4263","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:57:52.868518+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.408","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKL5 as ready","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:57:52.857685+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.408","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl5 has been classified as Green List (High Evidence).","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:57:46.294562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.408","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDKL5 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 to Developmental and epileptic encephalopathy 2, MIM# 300672","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:57:34.957273+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.407","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDKL5 were set to 19793311","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:57:34.541696+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.407","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDKL5 were set to ","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:57:20.672562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"CDKL5","entity_type":"gene"},{"created":"2021-11-12T09:55:00.725930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDK13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDK13","entity_type":"gene"},{"created":"2021-11-12T09:54:18.888845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.405","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"CDK13","entity_type":"gene"},{"created":"2021-11-12T09:54:09.275251+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.405","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK13 as ready","entity_name":"CDK13","entity_type":"gene"},{"created":"2021-11-12T09:54:09.259076+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.405","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk13 has been classified as Green List (High Evidence).","entity_name":"CDK13","entity_type":"gene"},{"created":"2021-11-12T09:54:04.141861+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.405","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDK13 were changed from Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360","entity_name":"CDK13","entity_type":"gene"},{"created":"2021-11-12T09:53:52.455096+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDK13 were set to ","entity_name":"CDK13","entity_type":"gene"},{"created":"2021-11-12T09:53:00.867605+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9707","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH3 as ready","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:53:00.856488+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9707","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh3 has been classified as Green List (High Evidence).","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:52:52.234312+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9707","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH3 were changed from  to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:52:11.456592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9706","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH3 were set to ","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:51:51.080554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9705","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:51:32.045347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9704","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:50:25.798810+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH3 as ready","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:50:25.788440+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh3 has been classified as Green List (High Evidence).","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:50:22.030122+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH3 were changed from EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:50:09.535735+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH3 were set to ","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:49:52.668680+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805154, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH3","entity_type":"gene"},{"created":"2021-11-12T09:29:25.958106+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH1 as ready","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:29:25.947917+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh1 has been classified as Green List (High Evidence).","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:29:23.644065+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH1 were changed from Blepharocheilodontic syndrome 1; BLEPHAROCHEILODONTIC to Blepharocheilodontic syndrome 1, MIM# 119580","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:29:14.248489+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH1 were set to 27566442; 28301459","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:29:05.694656+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:28:53.861134+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:27:50.616845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH1 as ready","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:27:50.605792+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh1 has been classified as Green List (High Evidence).","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:27:46.562965+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, MIM# 119580","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:27:34.241913+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH1 were set to ","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:27:22.575201+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:27:09.890630+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-12T09:24:58.952110+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC6 as ready","entity_name":"CDC6","entity_type":"gene"},{"created":"2021-11-12T09:24:58.943389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc6 has been classified as Red List (Low Evidence).","entity_name":"CDC6","entity_type":"gene"},{"created":"2021-11-12T09:24:54.419933+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5 (MIM#613805)","entity_name":"CDC6","entity_type":"gene"},{"created":"2021-11-12T09:24:41.789525+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDC6 were set to ","entity_name":"CDC6","entity_type":"gene"},{"created":"2021-11-12T09:24:29.901525+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC6 as Red List (low evidence)","entity_name":"CDC6","entity_type":"gene"},{"created":"2021-11-12T09:24:29.879876+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc6 has been classified as Red List (Low Evidence).","entity_name":"CDC6","entity_type":"gene"},{"created":"2021-11-12T09:23:42.900107+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC45 as ready","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:23:42.890380+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc45 has been classified as Green List (High Evidence).","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:23:38.681269+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC45 as Green List (high evidence)","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:23:38.664068+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc45 has been classified as Green List (High Evidence).","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:23:29.977903+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDC45 was added\ngene: CDC45 was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC45 were set to 31474763; 27374770\nPhenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, MIM 617063\nReview for gene: CDC45 was set to GREEN\nAdded comment: More than 10 families reported, short stature is a defining feature. \nSources: Expert Review","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:21:35.255341+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC45 as ready","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:21:35.239435+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc45 has been classified as Green List (High Evidence).","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:21:31.644474+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDC45 were changed from Meier-Gorlin Syndrome and Craniosynostosis to Meier-Gorlin syndrome 7, MIM 617063","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:21:17.972721+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDC45 were set to ","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:21:03.644379+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 31474763, 27374770; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDC45","entity_type":"gene"},{"created":"2021-11-12T09:14:49.270808+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: EFHC1.","entity_name":"EFHC1","entity_type":"gene"},{"created":"2021-11-12T09:14:23.502243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9704","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: EFHC1.","entity_name":"EFHC1","entity_type":"gene"},{"created":"2021-11-11T20:23:12.528650+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9704","user_name":"Zornitza Stark","item_type":"entity","text":"Tag refuted tag was added to gene: CPA6.\nTag disputed tag was added to gene: CPA6.","entity_name":"CPA6","entity_type":"gene"},{"created":"2021-11-11T20:22:40.553536+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Tag refuted tag was added to gene: CPA6.\nTag disputed tag was added to gene: CPA6.","entity_name":"CPA6","entity_type":"gene"},{"created":"2021-11-11T20:21:41.296498+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN9A were set to 19763161; 29500686; 30834459; 23895530","entity_name":"SCN9A","entity_type":"gene"},{"created":"2021-11-11T20:20:25.074754+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9704","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MICAL1 as ready","entity_name":"MICAL1","entity_type":"gene"},{"created":"2021-11-11T20:20:25.063323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9704","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mical1 has been classified as Amber List (Moderate Evidence).","entity_name":"MICAL1","entity_type":"gene"},{"created":"2021-11-11T20:19:42.732414+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLNC were set to 31924696","entity_name":"FLNC","entity_type":"gene"},{"created":"2021-11-11T20:19:11.047461+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLNC as Green List (high evidence)","entity_name":"FLNC","entity_type":"gene"},{"created":"2021-11-11T20:19:11.038249+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flnc has been classified as Green List (High Evidence).","entity_name":"FLNC","entity_type":"gene"},{"created":"2021-11-11T20:16:55.830883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9704","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"EFHC1","entity_type":"gene"},{"created":"2021-11-11T20:16:29.710645+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RYR3 as ready","entity_name":"RYR3","entity_type":"gene"},{"created":"2021-11-11T20:16:29.701574+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ryr3 has been classified as Amber List (Moderate Evidence).","entity_name":"RYR3","entity_type":"gene"},{"created":"2021-11-11T18:58:41.007169+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1389","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SLC46A1 as ready","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2021-11-11T18:58:40.996947+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1389","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc46a1 has been classified as Green List (High Evidence).","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2021-11-11T18:57:54.153658+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1389","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SLC46A1 as Green List (high evidence)","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2021-11-11T18:57:54.143092+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1389","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc46a1 has been classified as Green List (High Evidence).","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2021-11-11T18:49:24.618655+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1388","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RYR3 as Amber List (moderate evidence)","entity_name":"RYR3","entity_type":"gene"},{"created":"2021-11-11T18:49:24.608177+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1388","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ryr3 has been classified as Amber List (Moderate Evidence).","entity_name":"RYR3","entity_type":"gene"},{"created":"2021-11-11T18:48:37.505373+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1387","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RYR3 was added\ngene: RYR3 was added to Genetic Epilepsy. Sources: ClinGen\nMode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RYR3 were set to 25262651\nPhenotypes for gene: RYR3 were set to undetermined early-onset epileptic encephalopathy (MONDO:0018614)\nReview for gene: RYR3 was set to AMBER\nAdded comment: 2 probands with different de novo missense variants in a single publication. Classified as Limited by ClinGen Epilepsy GCEP - Classification - 06/19/2018. \nSources: ClinGen","entity_name":"RYR3","entity_type":"gene"},{"created":"2021-11-11T18:36:35.824125+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9704","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EFHC1 as Red List (low evidence)","entity_name":"EFHC1","entity_type":"gene"}]}