{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2074","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2072","results":[{"created":"2019-12-05T00:14:30.928442+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.315","user_name":"chirag patel","item_type":"entity","text":"Gene: znf462 has been classified as Green List (High Evidence).","entity_name":"ZNF462","entity_type":"gene"},{"created":"2019-12-05T00:14:11.341354+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.314","user_name":"chirag patel","item_type":"entity","text":"gene: ZNF462 was added\ngene: ZNF462 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF462 were set to PubMed: 31361404; 28513610\nPhenotypes for gene: ZNF462 were set to Weiss-Kruszka syndrome; OMIM# 618619\nReview for gene: ZNF462 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"ZNF462","entity_type":"gene"},{"created":"2019-12-05T00:04:33.578002+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.313","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from XPA.\nSource Expert list was added to XPA.\nMode of inheritance for gene XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPA were changed from  to Xeroderma pigmentosum, group A; OMIM# 278700","entity_name":"XPA","entity_type":"gene"},{"created":"2019-12-05T00:03:59.631050+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.312","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A, OMIM# 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPA","entity_type":"gene"},{"created":"2019-12-05T00:00:51.664537+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.312","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from XYLT1.\nSource Expert list was added to XYLT1.\nMode of inheritance for gene XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT1 were changed from  to Desbuquois dysplasia 2; OMIM# 615777\nPublications for gene XYLT1 were changed from PubMed: 24581741; 22711505; 23982343 to PubMed: 24581741; 22711505; 23982343","entity_name":"XYLT1","entity_type":"gene"},{"created":"2019-12-04T23:59:56.887537+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.311","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24581741, 22711505, 23982343; Phenotypes: Desbuquois dysplasia 2, OMIM# 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XYLT1","entity_type":"gene"},{"created":"2019-12-04T23:57:24.585795+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.311","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZC3H14 as Amber List (moderate evidence)","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2019-12-04T23:57:24.578248+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.311","user_name":"chirag patel","item_type":"entity","text":"Gene: zc3h14 has been classified as Amber List (Moderate Evidence).","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2019-12-04T23:57:10.649157+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.310","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from ZC3H14.\nSource Expert list was added to ZC3H14.\nMode of inheritance for gene ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZC3H14 were changed from  to Mental retardation, autosomal recessive 56; OMIM# 617125\nPublications for gene ZC3H14 were changed from PubMed: 21734151 to PubMed: 21734151","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2019-12-04T23:56:21.751316+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.309","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21734151; Phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZC3H14","entity_type":"gene"},{"created":"2019-12-04T23:53:35.590526+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.309","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZCCHC12 as Red List (low evidence)","entity_name":"ZCCHC12","entity_type":"gene"},{"created":"2019-12-04T23:53:35.583170+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.309","user_name":"chirag patel","item_type":"entity","text":"Gene: zcchc12 has been classified as Red List (Low Evidence).","entity_name":"ZCCHC12","entity_type":"gene"},{"created":"2019-12-04T23:53:22.349370+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.308","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZCCHC12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ZCCHC12","entity_type":"gene"},{"created":"2019-12-04T23:52:40.893248+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.308","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZDHHC15 as Red List (low evidence)","entity_name":"ZDHHC15","entity_type":"gene"},{"created":"2019-12-04T23:52:40.885927+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.308","user_name":"chirag patel","item_type":"entity","text":"Gene: zdhhc15 has been classified as Red List (Low Evidence).","entity_name":"ZDHHC15","entity_type":"gene"},{"created":"2019-12-04T23:52:15.737446+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.307","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ZDHHC15","entity_type":"gene"},{"created":"2019-12-04T23:46:26.061521+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.307","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZFP57 as Red List (low evidence)","entity_name":"ZFP57","entity_type":"gene"},{"created":"2019-12-04T23:46:26.052714+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.307","user_name":"chirag patel","item_type":"entity","text":"Gene: zfp57 has been classified as Red List (Low Evidence).","entity_name":"ZFP57","entity_type":"gene"},{"created":"2019-12-04T23:46:12.126202+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.306","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from ZFP57.\nSource Expert list was added to ZFP57.\nMode of inheritance for gene ZFP57 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPhenotypes for gene: ZFP57 were changed from  to {Diabetes mellitus, transient neonatal, 1}; OMIM# 601410","entity_name":"ZFP57","entity_type":"gene"},{"created":"2019-12-04T23:45:45.503463+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.305","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZFP57: Rating: RED; 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":"2019-12-04T23:42:57.735469+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.305","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZMYM3 as Red List (low evidence)","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2019-12-04T23:42:57.727854+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.305","user_name":"chirag patel","item_type":"entity","text":"Gene: zmym3 has been classified as Red List (Low Evidence).","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2019-12-04T23:42:40.534691+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.304","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZMYM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24721225; Phenotypes: ; Mode of inheritance: None","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2019-12-04T23:40:02.537717+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.304","user_name":"chirag patel","item_type":"entity","text":"Publications for gene ZNF335 were changed from PubMed: 23178126; 27540107; 29652087 to PubMed: 23178126; 27540107; 29652087","entity_name":"ZNF335","entity_type":"gene"},{"created":"2019-12-04T23:39:29.433515+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.303","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from ZNF335.\nSource Expert list was added to ZNF335.\nMode of inheritance for gene ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF335 were changed from  to Microcephaly 10, primary, autosomal recessive; OMIM #615095","entity_name":"ZNF335","entity_type":"gene"},{"created":"2019-12-04T23:38:46.877273+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.302","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM #615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZNF335","entity_type":"gene"},{"created":"2019-12-04T23:29:48.894923+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.302","user_name":"chirag patel","item_type":"entity","text":"changed review comment from: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of 2 other ZNF41 mutations (314995.0001-314995.0002) that were not found in healthy control individuals.  Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.; to: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals.  Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.","entity_name":"ZNF41","entity_type":"gene"},{"created":"2019-12-04T23:28:46.698288+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.302","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZNF41: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 14628291, 23871722; Phenotypes: ; Mode of inheritance: None","entity_name":"ZNF41","entity_type":"gene"},{"created":"2019-12-04T23:27:13.434921+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.302","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZNF41 as Red List (low evidence)","entity_name":"ZNF41","entity_type":"gene"},{"created":"2019-12-04T23:27:13.427384+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.302","user_name":"chirag patel","item_type":"entity","text":"Gene: znf41 has been classified as Red List (Low Evidence).","entity_name":"ZNF41","entity_type":"gene"},{"created":"2019-12-04T23:24:30.501122+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.301","user_name":"chirag patel","item_type":"entity","text":"Marked gene: ZNF423 as ready","entity_name":"ZNF423","entity_type":"gene"},{"created":"2019-12-04T23:24:30.493916+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.301","user_name":"chirag patel","item_type":"entity","text":"Gene: znf423 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF423","entity_type":"gene"},{"created":"2019-12-04T23:24:18.610552+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.301","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZNF423 as Amber List (moderate evidence)","entity_name":"ZNF423","entity_type":"gene"},{"created":"2019-12-04T23:24:18.603271+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.301","user_name":"chirag patel","item_type":"entity","text":"Gene: znf423 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF423","entity_type":"gene"},{"created":"2019-12-04T23:24:04.214516+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.300","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from ZNF423.\nSource Expert list was added to ZNF423.\nMode of inheritance for gene ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF423 were changed from  to Joubert syndrome 19, OMIM# 614844\nPublications for gene ZNF423 were changed from PMID: 22863007 to PMID: 22863007","entity_name":"ZNF423","entity_type":"gene"},{"created":"2019-12-04T23:23:19.381888+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.299","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ZNF423","entity_type":"gene"},{"created":"2019-12-04T23:18:05.070189+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.299","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZNF507 as Red List (low evidence)","entity_name":"ZNF507","entity_type":"gene"},{"created":"2019-12-04T23:18:05.062735+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.299","user_name":"chirag patel","item_type":"entity","text":"Gene: znf507 has been classified as Red List (Low Evidence).","entity_name":"ZNF507","entity_type":"gene"},{"created":"2019-12-04T23:17:52.497347+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.298","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZNF507: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ZNF507","entity_type":"gene"},{"created":"2019-12-04T23:16:10.588609+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.298","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZNF674 as Amber List (moderate evidence)","entity_name":"ZNF674","entity_type":"gene"},{"created":"2019-12-04T23:16:10.581339+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.298","user_name":"chirag patel","item_type":"entity","text":"Gene: znf674 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF674","entity_type":"gene"},{"created":"2019-12-04T23:15:56.812648+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.297","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from ZNF674.\nSource Expert list was added to ZNF674.\nMode of inheritance for gene ZNF674 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZNF674","entity_type":"gene"},{"created":"2019-12-04T23:15:29.418355+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.296","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZNF674: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16385466; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZNF674","entity_type":"gene"},{"created":"2019-12-04T23:10:31.492719+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.296","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZNF804A as Red List (low evidence)","entity_name":"ZNF804A","entity_type":"gene"},{"created":"2019-12-04T23:10:31.485197+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.296","user_name":"chirag patel","item_type":"entity","text":"Gene: znf804a has been classified as Red List (Low Evidence).","entity_name":"ZNF804A","entity_type":"gene"},{"created":"2019-12-04T23:10:20.169783+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.295","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from ZNF804A.\nSource Expert list was added to ZNF804A.","entity_name":"ZNF804A","entity_type":"gene"},{"created":"2019-12-04T23:10:01.541938+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.294","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZNF804A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ZNF804A","entity_type":"gene"},{"created":"2019-12-04T23:07:13.867185+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.294","user_name":"chirag patel","item_type":"entity","text":"Classified gene: ZNHIT6 as Red List (low evidence)","entity_name":"ZNHIT6","entity_type":"gene"},{"created":"2019-12-04T23:07:13.856934+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.294","user_name":"chirag patel","item_type":"entity","text":"Gene: znhit6 has been classified as Red List (Low Evidence).","entity_name":"ZNHIT6","entity_type":"gene"},{"created":"2019-12-04T23:04:31.981104+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.293","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: ZNHIT6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ZNHIT6","entity_type":"gene"},{"created":"2019-12-04T21:37:17.848534+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAQ as ready","entity_name":"GNAQ","entity_type":"gene"},{"created":"2019-12-04T21:37:17.841262+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnaq has been classified as Amber List (Moderate Evidence).","entity_name":"GNAQ","entity_type":"gene"},{"created":"2019-12-04T21:37:12.903414+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAQ were changed from  to Sturge-Weber syndrome, somatic, mosaic, MIM#185300","entity_name":"GNAQ","entity_type":"gene"},{"created":"2019-12-04T21:36:55.848673+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNAQ as Amber List (moderate evidence)","entity_name":"GNAQ","entity_type":"gene"},{"created":"2019-12-04T21:36:55.839549+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnaq has been classified as Amber List (Moderate Evidence).","entity_name":"GNAQ","entity_type":"gene"},{"created":"2019-12-04T21:36:40.730467+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, MIM#185300; Mode of inheritance: Other","entity_name":"GNAQ","entity_type":"gene"},{"created":"2019-12-04T21:31:22.769463+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNA14 as ready","entity_name":"GNA14","entity_type":"gene"},{"created":"2019-12-04T21:31:22.762296+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gna14 has been classified as Red List (Low Evidence).","entity_name":"GNA14","entity_type":"gene"},{"created":"2019-12-04T21:31:17.412921+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNA14 as Red List (low evidence)","entity_name":"GNA14","entity_type":"gene"},{"created":"2019-12-04T21:31:17.405056+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gna14 has been classified as Red List (Low Evidence).","entity_name":"GNA14","entity_type":"gene"},{"created":"2019-12-04T21:31:04.213253+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNA14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"GNA14","entity_type":"gene"},{"created":"2019-12-04T21:27:44.956250+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLUD1 as ready","entity_name":"GLUD1","entity_type":"gene"},{"created":"2019-12-04T21:27:44.948398+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glud1 has been classified as Red List (Low Evidence).","entity_name":"GLUD1","entity_type":"gene"},{"created":"2019-12-04T21:27:39.909914+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLUD1 were changed from  to Hyperinsulinism-hyperammonemia syndrome, MIM#606762","entity_name":"GLUD1","entity_type":"gene"},{"created":"2019-12-04T21:27:27.552377+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLUD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLUD1","entity_type":"gene"},{"created":"2019-12-04T21:27:18.211337+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLUD1 as Red List (low evidence)","entity_name":"GLUD1","entity_type":"gene"},{"created":"2019-12-04T21:27:18.203988+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glud1 has been classified as Red List (Low Evidence).","entity_name":"GLUD1","entity_type":"gene"},{"created":"2019-12-04T21:27:04.069375+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLUD1","entity_type":"gene"},{"created":"2019-12-04T20:49:55.295661+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLIS3 as ready","entity_name":"GLIS3","entity_type":"gene"},{"created":"2019-12-04T20:49:55.287717+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glis3 has been classified as Green List (High Evidence).","entity_name":"GLIS3","entity_type":"gene"},{"created":"2019-12-04T20:49:50.424334+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLIS3 were changed from  to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199","entity_name":"GLIS3","entity_type":"gene"},{"created":"2019-12-04T20:49:33.619302+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLIS3 were set to ","entity_name":"GLIS3","entity_type":"gene"},{"created":"2019-12-04T20:49:20.295160+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLIS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLIS3","entity_type":"gene"},{"created":"2019-12-04T20:49:06.653178+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLIS3","entity_type":"gene"},{"created":"2019-12-04T20:43:44.915992+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB1 as ready","entity_name":"GJB1","entity_type":"gene"},{"created":"2019-12-04T20:43:44.908865+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb1 has been classified as Red List (Low Evidence).","entity_name":"GJB1","entity_type":"gene"},{"created":"2019-12-04T20:43:38.301697+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB1 were changed from  to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800","entity_name":"GJB1","entity_type":"gene"},{"created":"2019-12-04T20:43:26.739086+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJB1 as Red List (low evidence)","entity_name":"GJB1","entity_type":"gene"},{"created":"2019-12-04T20:43:26.732097+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb1 has been classified as Red List (Low Evidence).","entity_name":"GJB1","entity_type":"gene"},{"created":"2019-12-04T20:43:11.274617+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other","entity_name":"GJB1","entity_type":"gene"},{"created":"2019-12-04T20:40:31.640777+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJA1 as ready","entity_name":"GJA1","entity_type":"gene"},{"created":"2019-12-04T20:40:31.633467+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja1 has been classified as Red List (Low Evidence).","entity_name":"GJA1","entity_type":"gene"},{"created":"2019-12-04T20:40:27.181697+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJA1 were changed from  to Atrioventricular septal defect 3, MIM#600309; Craniometaphyseal dysplasia, autosomal recessive, MIM#218400; Erythrokeratodermia variabilis et progressiva 3, MIM#617525; Hypoplastic left heart syndrome 1, MIM#241550; Oculodentodigital dysplasia, MIM#164200; Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Palmoplantar keratoderma with congenital alopecia, MIM#104100; Syndactyly, type III, MIM# 186100","entity_name":"GJA1","entity_type":"gene"},{"created":"2019-12-04T20:40:13.447952+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJA1","entity_type":"gene"},{"created":"2019-12-04T20:40:01.915514+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJA1 as Red List (low evidence)","entity_name":"GJA1","entity_type":"gene"},{"created":"2019-12-04T20:40:01.906115+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja1 has been classified as Red List (Low Evidence).","entity_name":"GJA1","entity_type":"gene"},{"created":"2019-12-04T20:39:48.917131+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Erythrokeratodermia variabilis et progressiva 3, MIM#617525, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJA1","entity_type":"gene"},{"created":"2019-12-04T20:35:07.867869+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GHR as ready","entity_name":"GHR","entity_type":"gene"},{"created":"2019-12-04T20:35:07.860217+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ghr has been classified as Red List (Low Evidence).","entity_name":"GHR","entity_type":"gene"},{"created":"2019-12-04T20:34:55.708841+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GHR were changed from  to Growth hormone insensitivity, partial, MIM#604271; Laron dwarfism, MIM#262500","entity_name":"GHR","entity_type":"gene"},{"created":"2019-12-04T20:34:42.649917+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GHR","entity_type":"gene"},{"created":"2019-12-04T20:34:34.696850+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GHR as Red List (low evidence)","entity_name":"GHR","entity_type":"gene"},{"created":"2019-12-04T20:34:34.687655+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ghr has been classified as Red List (Low Evidence).","entity_name":"GHR","entity_type":"gene"},{"created":"2019-12-04T20:34:21.769095+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity, partial, MIM#604271, Laron dwarfism, MIM#262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GHR","entity_type":"gene"},{"created":"2019-12-04T20:31:38.520891+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCSH as ready","entity_name":"GCSH","entity_type":"gene"},{"created":"2019-12-04T20:31:38.513250+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcsh has been classified as Red List (Low Evidence).","entity_name":"GCSH","entity_type":"gene"},{"created":"2019-12-04T20:31:34.277624+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCSH were changed from  to Glycine encephalopathy, MIM#605899","entity_name":"GCSH","entity_type":"gene"},{"created":"2019-12-04T20:31:01.934302+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCSH were set to ","entity_name":"GCSH","entity_type":"gene"},{"created":"2019-12-04T20:30:38.409801+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCSH","entity_type":"gene"},{"created":"2019-12-04T20:30:06.982439+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCSH as Red List (low evidence)","entity_name":"GCSH","entity_type":"gene"}]}