{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=936","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=934","results":[{"created":"2022-03-16T16:08:39.562392+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ino80 has been classified as Amber List (Moderate Evidence).","entity_name":"INO80","entity_type":"gene"},{"created":"2022-03-16T16:08:25.784066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11430","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INO80 were changed from  to Primary immunodeficiency, MONDO:0003778","entity_name":"INO80","entity_type":"gene"},{"created":"2022-03-16T16:08:00.529250+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11429","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INO80 were set to ","entity_name":"INO80","entity_type":"gene"},{"created":"2022-03-16T16:07:39.052860+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11428","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INO80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INO80","entity_type":"gene"},{"created":"2022-03-16T16:07:20.535100+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11427","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INO80 as Amber List (moderate evidence)","entity_name":"INO80","entity_type":"gene"},{"created":"2022-03-16T16:07:20.523640+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ino80 has been classified as Amber List (Moderate Evidence).","entity_name":"INO80","entity_type":"gene"},{"created":"2022-03-16T16:07:17.361803+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11426","user_name":"Manny Jacobs","item_type":"entity","text":"reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21933806; Phenotypes: # 603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TYMP","entity_type":"gene"},{"created":"2022-03-16T16:06:56.549791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11426","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INO80: Rating: AMBER; Mode of pathogenicity: None; Publications: 25312759; Phenotypes: Primary immunodeficiency, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INO80","entity_type":"gene"},{"created":"2022-03-16T16:02:29.657327+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IMPAD1 as ready","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-03-16T16:02:29.647611+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impad1 has been classified as Green List (High Evidence).","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-03-16T16:02:12.409327+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IMPAD1 were changed from  to Chondrodysplasia with joint dislocations, GPAPP type MIM#614078","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-03-16T16:01:45.137245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11425","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IMPAD1 were set to ","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-03-16T16:01:24.343186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11424","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IMPAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-03-16T16:01:02.161695+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their review","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-03-16T16:00:48.566506+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-03-16T15:53:29.870704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Cannot find evidence for association with Mendelian disease.; to: Limited data to support association with autism: two variants in a large ASD cohort and other supportive evidence. Assessed as 'strong candidate' by SFARI.","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:53:13.203894+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ILF2 as ready","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:53:13.193351+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ilf2 has been classified as Red List (Low Evidence).","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:53:04.057901+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ILF2 were changed from  to Autism","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:52:35.709722+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ILF2 were set to ","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:52:33.242729+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ILF2: Changed publications: 26402605; Changed phenotypes: Autism","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:51:44.203775+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ILF2 as Red List (low evidence)","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:51:44.194519+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ilf2 has been classified as Red List (Low Evidence).","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:50:56.787727+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ILF2 as Red List (low evidence)","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:50:56.778692+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ilf2 has been classified as Red List (Low Evidence).","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:50:14.857800+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ILF2: Rating: RED; Mode of pathogenicity: None; Publications: 26402605; Phenotypes: Autism; Mode of inheritance: None","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:47:13.320754+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ILF2 as ready","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:47:13.311681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ilf2 has been classified as Red List (Low Evidence).","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T15:28:14.049410+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Manny Jacobs","item_type":"entity","text":"reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17980020; Phenotypes: Albinism, oculocutaneous, type IA, OMIM 203100, Albinism, oculocutaneous, type IB, OMIM 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TYR","entity_type":"gene"},{"created":"2022-03-16T15:15:52.754569+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Samantha Ayres","item_type":"entity","text":"reviewed gene: SALL4: Rating: ; Mode of pathogenicity: None; Publications: 20301547; Phenotypes: Duane-radial ray syndrome, MIM# 607323, MONDO:0011812, IVIC syndrome, MIM# 147750, MONDO:0007836; Mode of inheritance: None","entity_name":"SALL4","entity_type":"gene"},{"created":"2022-03-16T14:39:10.154201+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Manny Jacobs","item_type":"entity","text":"reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27904822; Phenotypes: # 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TYROBP","entity_type":"gene"},{"created":"2022-03-16T14:30:26.498470+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ILF2 as Red List (low evidence)","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T14:30:26.487532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ilf2 has been classified as Red List (Low Evidence).","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T14:30:07.556331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ILF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ILF2","entity_type":"gene"},{"created":"2022-03-16T11:51:53.895322+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.711","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2022-03-16T11:51:42.040604+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.403","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2022-03-16T11:50:04.548793+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1481","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2022-03-16T11:49:18.033934+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2022-03-16T11:44:50.467219+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NDST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25125150, 21937992, 32878022, 28211985; Phenotypes: Mental retardation, autosomal recessive 46 - MIM#616116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDST1","entity_type":"gene"},{"created":"2022-03-16T11:44:39.030507+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4572","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NDST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25125150, 21937992, 32878022, 28211985; Phenotypes: Mental retardation, autosomal recessive 46 - MIM#616116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDST1","entity_type":"gene"},{"created":"2022-03-16T11:43:38.807393+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1481","user_name":"Krithika Murali","item_type":"entity","text":"gene: NDST1 was added\ngene: NDST1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDST1 were set to 25125150; 21937992; 32878022; 28211985\nPhenotypes for gene: NDST1 were set to Mental retardation, autosomal recessive 46 - MIM#616116\nReview for gene: NDST1 was set to GREEN\nAdded comment: At least 8 unrelated families reported. Biallelic NDST1 variants associated with intellectual disability, muscular hypotonia, epilepsy (feature noted in majority of published individuals, onset in infancy/childhood), and postnatal growth deficiency \nSources: Literature","entity_name":"NDST1","entity_type":"gene"},{"created":"2022-03-16T10:22:57.890884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Manny Jacobs","item_type":"entity","text":"reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: None; Current diagnostic: yes","entity_name":"TYRP1","entity_type":"gene"},{"created":"2022-03-15T21:08:29.253901+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NCR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NCR3","entity_type":"gene"},{"created":"2022-03-15T21:06:34.018404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NCOA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NCOA4","entity_type":"gene"},{"created":"2022-03-15T21:01:20.570847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692703, 16880254, 29969437; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCF4","entity_type":"gene"},{"created":"2022-03-15T20:58:36.431537+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.67","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCF2","entity_type":"gene"},{"created":"2022-03-15T20:56:01.291421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCF2","entity_type":"gene"},{"created":"2022-03-15T19:06:48.988797+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFNGR2 as ready","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:06:48.977534+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifngr2 has been classified as Green List (High Evidence).","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:06:46.683476+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFNGR2 were changed from  to Immunodeficiency 28, mycobacteriosis, MIM# 614889","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:06:14.660952+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFNGR2 were set to ","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:05:29.452145+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFNGR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:04:57.326757+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15924140, 18625743, 31222290; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM# 614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:02:21.610878+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFNGR2 as ready","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:02:21.601019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifngr2 has been classified as Green List (High Evidence).","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:02:06.146942+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11422","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFNGR2 were changed from  to Immunodeficiency 28, mycobacteriosis, MIM# 614889","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:01:45.868758+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11421","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFNGR2 were set to ","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:01:26.088880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11420","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFNGR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T19:01:05.295941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11419","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15924140, 18625743, 31222290; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM# 614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2022-03-15T18:56:46.848369+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFNGR1 as ready","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:56:46.836802+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifngr1 has been classified as Green List (High Evidence).","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:56:44.522509+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFNGR1 were changed from  to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:56:18.673250+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFNGR1 were set to ","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:55:49.071503+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFNGR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:55:17.845655+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7815885, 8960475, 9389728, 10811850, 10192386, 12244188, 15589309; Phenotypes: Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950, Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:54:23.732828+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11419","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFNGR1 as ready","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:54:23.723110+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11419","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifngr1 has been classified as Green List (High Evidence).","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:54:15.702958+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11419","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFNGR1 were changed from  to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:53:55.243841+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11418","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFNGR1 were set to ","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:53:31.634451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11417","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFNGR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:53:13.476599+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11416","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7815885, 8960475, 9389728, 10811850, 10192386, 12244188, 15589309; Phenotypes: Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950, Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2022-03-15T18:48:34.840576+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11416","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFITM3 as ready","entity_name":"IFITM3","entity_type":"gene"},{"created":"2022-03-15T18:48:34.828491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifitm3 has been classified as Red List (Low Evidence).","entity_name":"IFITM3","entity_type":"gene"},{"created":"2022-03-15T18:48:26.021754+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11416","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFITM3 were changed from  to {Influenza, severe, susceptibility to} 614680","entity_name":"IFITM3","entity_type":"gene"},{"created":"2022-03-15T18:48:05.895072+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11415","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFITM3 as Red List (low evidence)","entity_name":"IFITM3","entity_type":"gene"},{"created":"2022-03-15T18:48:05.884690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifitm3 has been classified as Red List (Low Evidence).","entity_name":"IFITM3","entity_type":"gene"},{"created":"2022-03-15T18:47:45.253061+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11414","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFITM3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Influenza, severe, susceptibility to} 614680; Mode of inheritance: None","entity_name":"IFITM3","entity_type":"gene"},{"created":"2022-03-15T17:28:15.447628+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.3","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DSPP as Green List (high evidence)","entity_name":"DSPP","entity_type":"gene"},{"created":"2022-03-15T17:28:15.437806+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.3","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dspp has been classified as Green List (High Evidence).","entity_name":"DSPP","entity_type":"gene"},{"created":"2022-03-15T17:28:03.262684+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: DSPP was added\ngene: DSPP was added to Amelogenesis imperfecta. Sources: Literature\nMode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DSPP were set to PMID: 18456718, 11175779\nPhenotypes for gene: DSPP were set to Dentinogenesis imperfecta, Shields type II, OMIM #125490\nReview for gene: DSPP was set to GREEN\nAdded comment: Dentinogenesis imperfecta presents with blue-gray/amber brown and opalescent teeth, bulbous crowns, narrow roots, small/obliterated  pulp chambers and root canals, and split enamel. Heterozygous mutations in DSPP gene identified in 5 families. Dspp knockout mice developed tooth defects similar to those of human DGI-III, including enlarged pulp chambers, increased width of predentin zone, hypomineralization, and pulp exposure \nSources: Literature","entity_name":"DSPP","entity_type":"gene"},{"created":"2022-03-15T17:06:10.710651+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11414","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDH3B as ready","entity_name":"IDH3B","entity_type":"gene"},{"created":"2022-03-15T17:06:10.698848+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idh3b has been classified as Green List (High Evidence).","entity_name":"IDH3B","entity_type":"gene"},{"created":"2022-03-15T17:06:02.265156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11414","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDH3B were changed from  to Retinitis pigmentosa 46, MIM# 612572","entity_name":"IDH3B","entity_type":"gene"},{"created":"2022-03-15T17:05:42.432819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11413","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IDH3B were set to ","entity_name":"IDH3B","entity_type":"gene"},{"created":"2022-03-15T17:05:21.117493+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11412","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IDH3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDH3B","entity_type":"gene"},{"created":"2022-03-15T17:05:02.022519+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11411","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18806796, 31736247; Phenotypes: Retinitis pigmentosa 46, MIM# 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDH3B","entity_type":"gene"},{"created":"2022-03-15T17:03:08.918597+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11411","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDH2 as ready","entity_name":"IDH2","entity_type":"gene"},{"created":"2022-03-15T17:03:08.907464+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idh2 has been classified as Green List (High Evidence).","entity_name":"IDH2","entity_type":"gene"},{"created":"2022-03-15T17:02:51.737006+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11411","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDH2 were changed from  to D-2-hydroxyglutaric aciduria 2, MIM# 613657","entity_name":"IDH2","entity_type":"gene"},{"created":"2022-03-15T17:02:30.888554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11410","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IDH2 were set to ","entity_name":"IDH2","entity_type":"gene"},{"created":"2022-03-15T17:02:10.706547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11409","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IDH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IDH2","entity_type":"gene"},{"created":"2022-03-15T17:01:52.597343+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11408","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 27142242, 20847235, 24049096; Phenotypes: D-2-hydroxyglutaric aciduria 2, MIM# 613657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IDH2","entity_type":"gene"},{"created":"2022-03-15T16:59:32.473663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11408","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICOS as ready","entity_name":"ICOS","entity_type":"gene"},{"created":"2022-03-15T16:59:32.461986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11408","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: icos has been classified as Green List (High Evidence).","entity_name":"ICOS","entity_type":"gene"},{"created":"2022-03-15T16:59:24.811548+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11408","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ICOS were changed from  to Immunodeficiency, common variable, 1 MIM# 607594","entity_name":"ICOS","entity_type":"gene"},{"created":"2022-03-15T16:59:06.327258+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11407","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ICOS were set to ","entity_name":"ICOS","entity_type":"gene"},{"created":"2022-03-15T16:58:47.459178+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11406","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ICOS","entity_type":"gene"},{"created":"2022-03-15T16:58:28.222962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11405","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577056, 15507387, 19380800, 28861081, 31858365, 11343122, 16982935; Phenotypes: Immunodeficiency, common variable, 1 MIM# 607594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ICOS","entity_type":"gene"},{"created":"2022-03-15T16:56:43.720576+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11405","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICAM4 as ready","entity_name":"ICAM4","entity_type":"gene"},{"created":"2022-03-15T16:56:43.708649+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11405","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: icam4 has been classified as Red List (Low Evidence).","entity_name":"ICAM4","entity_type":"gene"}]}