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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1241",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1239",
"results": [
{
"created": "2021-08-13T10:45:55.256422+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rogdi has been classified as Green List (High Evidence).",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:45:50.335435+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROGDI were changed from to Kohlschutter-Tonz syndrome, MIM# 226750",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:45:35.518596+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROGDI were set to ",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:44:42.641397+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ROGDI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:44:11.500493+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 33866847; Phenotypes: Kohlschutter-Tonz syndrome, MIM# 226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:43:29.910216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROGDI as ready",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:43:29.899268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rogdi has been classified as Green List (High Evidence).",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:43:21.566241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROGDI were changed from to Kohlschutter-Tonz syndrome, MIM# 226750",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:43:01.902141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROGDI were set to ",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:42:43.402344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ROGDI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:42:25.310206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 33866847; Phenotypes: Kohlschutter-Tonz syndrome, MIM# 226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:40:27.633228+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROGDI as ready",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:40:27.622447+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rogdi has been classified as Green List (High Evidence).",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:40:24.499505+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROGDI were changed from Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome, 226750 to Kohlschutter-Tonz syndrome MIM #226750; Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:39:28.534068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELT as ready",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:39:28.524876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: relt has been classified as Green List (High Evidence).",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:39:14.814949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RELT as Green List (high evidence)",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:39:14.804815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: relt has been classified as Green List (High Evidence).",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:38:57.861240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELT was added\ngene: RELT was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RELT were set to 30506946\nPhenotypes for gene: RELT were set to Amelogenesis imperfecta, type IIIC, MIM# 618386\nReview for gene: RELT was set to GREEN\nAdded comment: Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. At least 3 families and a mouse model. \nSources: Expert Review",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:37:44.075872+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELT as ready",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:37:44.065405+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: relt has been classified as Green List (High Evidence).",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:37:19.437380+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RELT were changed from amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386 to Amelogenesis imperfecta, type IIIC, MIM# 618386",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:37:04.820443+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RELT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30506946; Phenotypes: Amelogenesis imperfecta, type IIIC, MIM# 618386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:34:43.713339+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:34:43.702008+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Green List (High Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:34:41.361889+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863 to Heimler syndrome 2, MIM# 616617",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:34:31.025858+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to 26387595; 27302843; 16530715",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:34:07.747681+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26387595, 27633571, 27302843; Phenotypes: Heimler syndrome 2, MIM# 616617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:33:06.534847+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PEX1: Changed publications: 26387595, 27633571, 27302843",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:32:54.645824+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX1 as ready",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:32:54.635089+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex1 has been classified as Green List (High Evidence).",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:32:21.526260+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta to Heimler syndrome 1, MIM# 234580",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:32:06.282173+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heimler syndrome 1, MIM# 234580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:00:22.013477+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORAI1 as ready",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:00:21.990171+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orai1 has been classified as Green List (High Evidence).",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:00:18.938478+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORAI1 were changed from Immunodeficiency 9, 612782 to Immunodeficiency 9, MIM# 612782; Hypocalcified amelogenesis imperfecta",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:59:57.882351+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26469693, 16582901, 20004786; Phenotypes: Immunodeficiency 9, MIM# 612782; Mode of inheritance: None",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:49:27.143007+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP20 as ready",
"entity_name": "MMP20",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:49:27.127326+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp20 has been classified as Green List (High Evidence).",
"entity_name": "MMP20",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:49:25.077041+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMP20 were changed from Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive to Amelogenesis imperfecta, type IIA2, MIM# 612529",
"entity_name": "MMP20",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:49:09.813810+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMP20: Rating: GREEN; Mode of pathogenicity: None; Publications: 23625376, 26124219, 28659819, 19966041, 26502894, 28473773, 23355523, 18096894, 16246936, 15744043; Phenotypes: Amelogenesis imperfecta, type IIA2, MIM# 612529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP20",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:46:20.903333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:45:26.818094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMB3 were set to 11023379; 7706760",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:45:05.728636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:44:48.423437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAMB3: Changed publications: 11023379, 7706760, 23958762, 7706760, 23632796, 26502894, 27220909, 25769099, 24494736; Changed phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:43:49.055767+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB3 as ready",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:43:49.044678+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb3 has been classified as Green List (High Evidence).",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:43:46.642351+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB3 were changed from Amelogenesis Imperfecta, Type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 26700; Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:43:31.260241+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAMB3: Changed publications: 23958762, 7706760, 23632796, 26502894, 27220909, 25769099, 24494736",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:37:35.712916+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:34:35.122708+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0753 were changed from Short-rib skeletal dysplasia to Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:34:13.541715+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0753 were set to 29138412",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:33:39.237029+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0753: Added comment: Additional families reported.; Changed publications: 29138412, 31816441, 33875766, 34016807; Changed phenotypes: Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:32:48.211215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV, MIM# 617127; Joubert syndrome 38, MIM# 619476 to Orofaciodigital syndrome XV, MIM# 617127; Joubert syndrome 38, MIM# 619476; Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:32:24.809817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0753 were set to 31816441; 28220259; 29138412; 26643951",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:32:01.662462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0753: Added comment: At least 5 families reported with a skeletal ciliopathy.; Changed publications: 29138412, 31816441, 33875766, 34016807; Changed phenotypes: Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:30:53.384072+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM#\t619476 to Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM#\t619476; Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:30:12.533917+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0753 were set to 31816441; 28220259; 29138412; 26643951",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:29:35.881072+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0753: Added comment: At least 5 families reported with a skeletal ciliopathy.; Changed rating: GREEN; Changed publications: 29138412, 31816441, 33875766, 34016807; Changed phenotypes: Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:27:48.817519+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN1 were changed from Neurodevelopmental Syndrome to Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:27:02.887359+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN1 were changed from Neurodevelopmental Syndrome to Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:26:28.995090+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475; Mode of inheritance: None",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:26:10.238642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN1 were changed from Neurodevelopmental Syndrome; Intellectual disability; Seizures to Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475; Neurodevelopmental Syndrome; Intellectual disability; Seizures",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:25:45.393597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475; Mode of inheritance: None",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-13T09:24:44.225195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for STR: NIID were changed from Neuronal intranuclear inclusion disease\tMIM#603472; Tremor, hereditary essential, 6\tMIM#618866 to Neuronal intranuclear inclusion disease\tMIM#603472; Tremor, hereditary essential, 6\tMIM#618866; Oculopharyngodistal myopathy 3, MIM# 619473",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-13T09:24:17.558863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed STR: NIID: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 3, MIM# 619473; Mode of inheritance: None",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-13T09:21:46.400823+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for STR: NIID were changed from Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866 to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866; Oculopharyngodistal myopathy 3, MIM# 619473",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-13T09:21:03.618074+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed STR: NIID: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 3, MIM#\t619473; Mode of inheritance: None",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-12T20:36:35.719067+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA3 as ready",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:36:35.709288+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama3 has been classified as Green List (High Evidence).",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:36:26.694564+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA3 were changed from Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:35:56.985777+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:35:33.337412+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Laryngoonychocutaneous syndrome, MIM# 245660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:20:18.826457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLK4 as ready",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:20:18.808610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk4 has been classified as Green List (High Evidence).",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:20:00.461806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLK4 were changed from to Amelogenesis imperfecta, type IIA1, MIM# 204700",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:19:42.887012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLK4 were set to ",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:19:25.233793+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:19:04.513540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15235027, 23355523, 28611678, 27066511; Phenotypes: Amelogenesis imperfecta, type IIA1, MIM# 204700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:18:09.130144+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:18:09.117361+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Green List (High Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:18:06.516957+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT3 were changed from to Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Lymphoproliferation; solid organ autoimmunity; recurrent infections; short stature; eczema; delayed puberty; dental abnormalities; autoimmune interstitial lung disease; juvenile-onset arthritis; primary hypothyroidism",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:17:38.937281+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLK4 as ready",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:17:38.925566+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk4 has been classified as Green List (High Evidence).",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:17:36.399176+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLK4 were changed from Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700 to Amelogenesis imperfecta, type IIA1, MIM# 204700",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:17:26.921440+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T20:17:06.719421+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15235027, 23355523, 28611678, 27066511; Phenotypes: Amelogenesis imperfecta, type IIA1, MIM# 204700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:33:22.860101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB6 as ready",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:33:22.849534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb6 has been classified as Green List (High Evidence).",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:33:14.095255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITGB6 as Green List (high evidence)",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:33:14.084845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb6 has been classified as Green List (High Evidence).",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:32:58.265937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB6 was added\ngene: ITGB6 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ITGB6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098\nPhenotypes for gene: ITGB6 were set to Amelogenesis imperfecta, type IH, MIM# 616221\nReview for gene: ITGB6 was set to GREEN\nAdded comment: At least 3 unrelated families reported. \nSources: Expert Review",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:32:31.440559+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:31:39.683895+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB6 as ready",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:31:39.670266+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb6 has been classified as Green List (High Evidence).",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:31:32.888406+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB6 were changed from Amelogenesis imperfecta, type IH, 616221; amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221 to Amelogenesis imperfecta, type IH, MIM# 616221",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:31:06.989960+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24305999, 24319098; Phenotypes: Amelogenesis imperfecta, type IH, MIM# 616221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:29:46.286348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:29:46.276924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Green List (High Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:29:32.570033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT3 were changed from to Hyper-IgE recurrent infection syndrome MIM# 147060; Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952",
"entity_name": "STAT3",
"entity_type": "gene"
}
]
}