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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=936",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=934",
"results": [
{
"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"
},
{
"created": "2022-03-15T16:56:36.119124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ICAM4 were changed from to [Blood group, Landsteiner-Wiener] 111250",
"entity_name": "ICAM4",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:56:15.486129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ICAM4 as Red List (low evidence)",
"entity_name": "ICAM4",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:56:15.470670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: icam4 has been classified as Red List (Low Evidence).",
"entity_name": "ICAM4",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:55:57.423828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ICAM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Landsteiner-Wiener] 111250; Mode of inheritance: None",
"entity_name": "ICAM4",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:53:49.744132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACACA as ready",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:53:49.732280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acaca has been classified as Red List (Low Evidence).",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:53:41.965983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACACA were changed from to Acetyl-CoA carboxylase deficiency MIM#613933",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:53:19.327382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACACA were set to ",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:52:59.583737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACACA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:52:37.610160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACACA as Red List (low evidence)",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:52:37.601026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acaca has been classified as Red List (Low Evidence).",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:48:40.975719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABL1 as ready",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:48:40.964416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:48:03.630626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCG8 as ready",
"entity_name": "ABCG8",
"entity_type": "gene"
}
]
}