{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=462","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=460","results":[{"created":"2024-05-02T13:49:51.837301+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1759","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ephx1 has been classified as Green List (High Evidence).","entity_name":"EPHX1","entity_type":"gene"},{"created":"2024-05-02T13:14:40.871114+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: 19375058, 26081641, 31821167, 11562630; Phenotypes: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840; Mode of inheritance: Unknown","entity_name":"COQ9","entity_type":"gene"},{"created":"2024-05-02T13:03:06.345097+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TREX1 as ready","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-02T13:03:06.324734+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-02T13:02:07.265270+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TREX1 as Green List (high evidence)","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-02T13:02:07.255756+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-02T13:01:20.165061+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POLG as ready","entity_name":"POLG","entity_type":"gene"},{"created":"2024-05-02T13:01:20.146373+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polg has been classified as Red List (Low Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2024-05-02T12:56:49.646888+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLG as Red List (low evidence)","entity_name":"POLG","entity_type":"gene"},{"created":"2024-05-02T12:56:49.633133+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polg has been classified as Red List (Low Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2024-05-02T12:54:38.057831+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: COL4A2 as ready","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-05-02T12:54:38.037281+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: col4a2 has been classified as Red List (Low Evidence).","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-05-02T12:54:07.864081+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COL4A2 as Red List (low evidence)","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-05-02T12:54:07.845835+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: col4a2 has been classified as Red List (Low Evidence).","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-05-02T12:52:35.483092+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: COL4A1 as ready","entity_name":"COL4A1","entity_type":"gene"},{"created":"2024-05-02T12:52:35.472343+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: col4a1 has been classified as Green List (High Evidence).","entity_name":"COL4A1","entity_type":"gene"},{"created":"2024-05-02T12:52:11.934406+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COL4A1 as Green List (high evidence)","entity_name":"COL4A1","entity_type":"gene"},{"created":"2024-05-02T12:52:11.919647+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: col4a1 has been classified as Green List (High Evidence).","entity_name":"COL4A1","entity_type":"gene"},{"created":"2024-05-02T12:48:58.172598+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33861982, 12469120, 34828384, 15198949, 33016646; Phenotypes: hemochromatosis type 2B MONDO:0013220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAMP","entity_type":"gene"},{"created":"2024-05-02T12:40:22.707558+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802645, 12130528, 35065677, 29985876, 26029709, 24055163; Phenotypes: hemochromatosis type 3 MONDO:0011417; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TFR2","entity_type":"gene"},{"created":"2024-05-02T12:24:51.584025+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: 8696333, 10575540, 20301613, 38560130; Phenotypes: hemochromatosis type 1 MONDO:0021001; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HFE","entity_type":"gene"},{"created":"2024-05-02T12:13:28.782427+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.16","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EPHX1","entity_type":"gene"},{"created":"2024-05-02T12:13:24.880630+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EPHX1","entity_type":"gene"},{"created":"2024-05-02T12:13:17.271091+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1758","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EPHX1","entity_type":"gene"},{"created":"2024-05-02T12:08:40.639424+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16715098, 21139041, 35394098; Phenotypes: neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLIS3","entity_type":"gene"},{"created":"2024-05-02T11:44:14.305460+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11137992, 32234571, 11137993, 33614561; Phenotypes: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-05-02T11:28:41.302131+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33486469, 34630333, 34654017, 32738013, 29767246; Phenotypes: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2024-05-02T10:59:35.140928+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"changed review comment from: Established gene disease association for Woodhouse-Sakati syndrome (also referred to as C2ORF37 gene), diabetes mellitus common presentation is syndrome; to: Established gene disease association for Woodhouse-Sakati syndrome (also referred to as C2ORF37 gene), diabetes mellitus common presentation of syndrome","entity_name":"DCAF17","entity_type":"gene"},{"created":"2024-05-02T10:59:21.215053+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome MONDO:0009419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCAF17","entity_type":"gene"},{"created":"2024-05-02T10:45:45.196360+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23770608, 33369179, 32826474, 30023403, 29199204, 28791128; Phenotypes: mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLD1","entity_type":"gene"},{"created":"2024-05-02T10:32:11.357155+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10739754, 17846994, 25056293, 25371195, 7490992; Phenotypes: Wolfram syndrome 2 MONDO:0011502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CISD2","entity_type":"gene"},{"created":"2024-05-02T09:57:58.441739+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941369, 17594715; Phenotypes: Alstrom syndrome MONDO:0008763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALMS1","entity_type":"gene"},{"created":"2024-05-02T08:32:21.902338+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.73","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: HOXD12 was added\ngene: HOXD12 was added to Hand and foot malformations. Sources: Other\nMode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXD12 were set to 38663984\nPhenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342\nMode of pathogenicity for gene: HOXD12 was set to Other\nReview for gene: HOXD12 was set to GREEN\nAdded comment: Novel gene-disease association with non-syndromic clubfoot.\r\n\r\n10 variants in HOXD12 have been reported in individuals with clubfoot (variants are predominantly missense variants however one rare deletion has been reported). \r\n\r\nPMID: 38663984\r\nAround 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate. \r\n\r\nN-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot. \r\nLoss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed. \nSources: Other","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T08:26:49.363424+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1758","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: HOXD12 was added\ngene: HOXD12 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXD12 were set to 38663984\nPhenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342\nMode of pathogenicity for gene: HOXD12 was set to Other\nReview for gene: HOXD12 was set to GREEN\nAdded comment: Novel gene-disease association with non-syndromic clubfoot.\r\n\r\n10 variants in HOXD12 have been reported in individuals with clubfoot (variants are predominantly missense variants however one rare deletion has been reported). \r\n\r\nPMID: 38663984\r\nAround 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate. \r\n\r\nN-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot. \r\nLoss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed. \nSources: Other","entity_name":"HOXD12","entity_type":"gene"},{"created":"2024-05-02T08:17:51.248907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1758","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: PKHD1L1: Changed publications: 38459354","entity_name":"PKHD1L1","entity_type":"gene"},{"created":"2024-05-01T16:37:28.860584+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2614","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MBOAT7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MBOAT7","entity_type":"gene"},{"created":"2024-05-01T16:36:52.324321+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2613","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MBOAT7","entity_type":"gene"},{"created":"2024-05-01T13:53:22.857046+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1758","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: PKHD1L1 was added\ngene: PKHD1L1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: PKHD1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1L1 were set to non syndromic hearing loss (MONDO:0020678)\nReview for gene: PKHD1L1 was set to GREEN\nAdded comment: At least 4 individuals from unrelated families with sensorineural hearing loss (SNHL) (2 of the reported probands were from consanguineous parents). \r\nThe individuals are either homozygous or compound heterozygous for mutations in PKHD1L1 (missense, frameshift and nonsense mutations have been reported).\r\n\r\nIn vitro functional assessment as well as a mini-gene assay of Gly605Arg was conducted. The  mini-gene assay on Gly605Arg showed that exon skipping occurs resulting in an in-frame deletion of 48 aa. Both studies didn't use a positive control however loss of function or disruption to protein stability is the speculated mechanism of disease. \nSources: Other","entity_name":"PKHD1L1","entity_type":"gene"},{"created":"2024-05-01T12:36:04.142738+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1758","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RAB32 as ready","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-05-01T12:36:04.126483+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1758","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rab32 has been classified as Red List (Low Evidence).","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-05-01T12:33:31.792307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1758","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RAB32 was added\ngene: RAB32 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB32 were set to 38614108\nPhenotypes for gene: RAB32 were set to Parkinson disease MONDO:0005180\nMode of pathogenicity for gene: RAB32 was set to Other\nReview for gene: RAB32 was set to RED\nAdded comment: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls). The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase. The variant is reported as a novel reduced penetrance PD risk factor. The 95% CI for the OR estimate are very wide. A confirmatory study is required for this variant. \nSources: Literature","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-05-01T12:18:19.225005+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.1","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RAB32 as ready","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-05-01T12:18:19.207715+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.1","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rab32 has been classified as Red List (Low Evidence).","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-05-01T12:09:52.815535+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.1","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls).\r\nThe variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase. \nSources: Literature; to: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls).\r\nThe variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase. \r\nThe variant is reported as a novel reduced penetrance PD risk factor. The 95% CI for the OR estimate are very wide. A confirmatory study is required for this variant.\r\nSources: Literature","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-05-01T11:51:50.770564+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.1","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: RAB32: Changed rating: RED","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-04-30T18:48:26.915734+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNF1B as ready","entity_name":"HNF1B","entity_type":"gene"},{"created":"2024-04-30T18:48:26.895773+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1b has been classified as Green List (High Evidence).","entity_name":"HNF1B","entity_type":"gene"},{"created":"2024-04-30T18:48:24.322720+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNF1B were changed from RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700 to renal cysts and diabetes syndrome MONDO:0007669","entity_name":"HNF1B","entity_type":"gene"},{"created":"2024-04-30T18:48:09.779789+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HNF1B were set to ","entity_name":"HNF1B","entity_type":"gene"},{"created":"2024-04-30T18:48:00.085919+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: HNF1B.","entity_name":"HNF1B","entity_type":"gene"},{"created":"2024-04-30T18:47:36.988310+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT2 as ready","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-04-30T18:47:36.974725+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt2 has been classified as Red List (Low Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-04-30T18:47:34.286068+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes to Diabetes mellitus, type II, 125853","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-04-30T18:46:13.794064+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AKT2 as Red List (low evidence)","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-04-30T18:46:13.773215+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt2 has been classified as Red List (Low Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-04-30T18:38:20.862435+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3; Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal diabetes mellitus (Dominant) to permanent neonatal diabetes mellitus MONDO:0100164","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2024-04-30T18:37:59.720630+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNJ11 were set to ","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2024-04-30T18:37:12.169987+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLA as ready","entity_name":"GLA","entity_type":"gene"},{"created":"2024-04-30T18:37:12.156256+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gla has been classified as Green List (High Evidence).","entity_name":"GLA","entity_type":"gene"},{"created":"2024-04-30T18:37:07.026584+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLA as Green List (high evidence)","entity_name":"GLA","entity_type":"gene"},{"created":"2024-04-30T18:37:07.013623+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gla has been classified as Green List (High Evidence).","entity_name":"GLA","entity_type":"gene"},{"created":"2024-04-30T18:36:00.873838+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5793","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CYHR1.","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T18:35:47.845078+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.258","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CYHR1.","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T18:35:32.677204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1757","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CYHR1.","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T18:24:29.022485+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.1","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RAB32 was added\ngene: RAB32 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB32 were set to 38614108\nPhenotypes for gene: RAB32 were set to Parkinson disease MONDO:0005180\nMode of pathogenicity for gene: RAB32 was set to Other\nReview for gene: RAB32 was set to AMBER\nAdded comment: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls).\r\nThe variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase. \nSources: Literature","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-04-30T18:06:33.659105+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1757","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CCDC91 as ready","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:06:33.647051+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1757","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc91 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:06:22.968640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1757","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCDC91 as Amber List (moderate evidence)","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:06:22.955017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1757","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc91 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:06:06.278661+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A single 3 generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. \nSources: Literature; to: A single 3-generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-human skin fibroblasts cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates.\r\nSources: Literature","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:06:01.710640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1756","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CCDC91 was added\ngene: CCDC91 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC91 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCDC91 were set to 38627542\nPhenotypes for gene: CCDC91 were set to Punctate palmoplantar keratoderma type III MONDO:0007047\nReview for gene: CCDC91 was set to AMBER\nAdded comment: A single 3-generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-human skin fibroblasts cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates \nSources: Literature","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:02:26.255893+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CCDC91 as ready","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:02:26.232009+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc91 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:02:05.287123+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCDC91 as Amber List (moderate evidence)","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:02:05.266480+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc91 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T18:01:04.137542+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CCDC91 was added\ngene: CCDC91 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: CCDC91 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCDC91 were set to 38627542\nPhenotypes for gene: CCDC91 were set to Punctate palmoplantar keratoderma type III MONDO:0007047\nReview for gene: CCDC91 was set to AMBER\nAdded comment: A single 3 generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. \nSources: Literature","entity_name":"CCDC91","entity_type":"gene"},{"created":"2024-04-30T17:45:13.175553+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1755","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related to Neurodevelopmental disorder, MONDO:0700092, ZTRAF1-related","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:44:03.892852+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1754","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CYHR1 were set to ","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:43:59.402542+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5793","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CYHR1 as Green List (high evidence)","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:43:59.389656+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5793","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cyhr1 has been classified as Green List (High Evidence).","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:41:44.387346+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5792","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CYHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38641995; Phenotypes: neurodevelopmental disorder MONDO:0700092, ZTRAF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:40:47.295367+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.258","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CYHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38641995; Phenotypes: neurodevelopmental disorder MONDO:0700092, ZTRAF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:38:34.291704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1753","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CYHR1 as Green List (high evidence)","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:38:34.270813+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1753","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cyhr1 has been classified as Green List (High Evidence).","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:38:10.799847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1752","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CYHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38641995; Phenotypes: neurodevelopmental disorder MONDO:0700092, ZTRAF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYHR1","entity_type":"gene"},{"created":"2024-04-30T17:06:16.241424+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.15","user_name":"Lynn Tan","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GLA were set to 36927868; 38254927; 9213072; 23949010; 32510623\nPhenotypes for gene: GLA were set to Fabry disease\tMONDO:0010526\nReview for gene: GLA was set to GREEN\ngene: GLA was marked as current diagnostic\nAdded comment: PMID 36927868 (2023)\r\nIndex patient with GLA T410A (α-Gal A activity 32%) developed dementia and died of stroke in her 70s\r\n\r\nPMID: 9213072 (1997)\r\n47M biochemically confirmed Fabry’s with predominant manifestation being a dementing illness\r\n\r\nPMID: 23949010 (2014)\r\nSystematic review on cognitive dysfunction in Fabry's disease: patients with Fabry disease may be impaired in: executive functioning assessed by two standardised tests, the Stroop test and the Trail Making test part B, information processing speed and attention. Five case studies documenting neuropsychological impairment also described. \r\n\r\nPMID: 32510623\r\nProspective cohort study to describe cognitive function changes in Fabry's over a year. Eighty‐one patients were included of which 76 patients (94%) completed both assessments (age: 44 years, 34% men, 75% classical phenotype). Four patients (5.3%) showed reliable decrease in cognitive functioning, two women and one man with classical disease and one woman with non‐classical disease (age range: 19‐41 years). Changes were from excellent to good/average and from good to average. None had a history of stroke or extensive WMLs. Follow‐up CESD scores were similar in two patients (+0 and +1) and increased in two others (+6, +11).\r\n\r\nPMID: 38254927 (2023)\r\n\"This vasculopathy, along with elevating the risk of cerebral ischemia and stroke, is likely the pathophysiological basis for cognitive impairments in FD patients. Nevertheless, there is currently insufficient evidence indicating a direct association between neuropsychological findings and alterations in morphology in the CNS of FD patients as determined by brain imaging techniques such as magnetic resonance imaging.\" \nSources: Literature","entity_name":"GLA","entity_type":"gene"},{"created":"2024-04-30T17:01:27.222100+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.52","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30086875, 20922570, 28824061, 15115830, 23626843; Phenotypes: permanent neonatal diabetes mellitus MONDO:0100164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2024-04-30T16:31:37.488229+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.52","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: None; Publications: 37105912, 28341696, 15166380; Phenotypes: type 2 diabetes mellitus MONDO:0005148; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-04-30T16:07:44.405762+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.52","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25536396, 9703339, 10484768; Phenotypes: renal cysts and diabetes syndrome MONDO:0007669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF1B","entity_type":"gene"},{"created":"2024-04-30T15:59:59.799630+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.311","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2024-04-30T15:59:17.888119+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.241","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2024-04-30T15:59:12.731962+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1752","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: EHBP1L1 were changed from non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2024-04-30T15:58:51.238992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1751","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2024-04-30T15:56:38.072253+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.15","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2024-04-30T15:55:38.762148+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.14","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2024-04-30T15:53:52.034735+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.52","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8945471, 11590126; Phenotypes: maturity-onset diabetes of the young type 1 MONDO:0007452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF4A","entity_type":"gene"},{"created":"2024-04-30T15:47:42.289312+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.117","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: IL27RA as ready","entity_name":"IL27RA","entity_type":"gene"},{"created":"2024-04-30T15:47:42.263742+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.117","user_name":"Ain Roesley","item_type":"entity","text":"Gene: il27ra has been classified as Amber List (Moderate Evidence).","entity_name":"IL27RA","entity_type":"gene"},{"created":"2024-04-30T15:47:35.144926+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1750","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: IL27RA as ready","entity_name":"IL27RA","entity_type":"gene"},{"created":"2024-04-30T15:47:35.130001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1750","user_name":"Ain Roesley","item_type":"entity","text":"Gene: il27ra has been classified as Amber List (Moderate Evidence).","entity_name":"IL27RA","entity_type":"gene"}]}