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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1855",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1853",
"results": [
{
"created": "2020-04-17T18:54:22.799629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAG1 as ready",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:54:22.791147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dag1 has been classified as Green List (High Evidence).",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:52:35.404354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:52:15.966213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DAG1 were set to ",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:52:01.533024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:51:09.359104+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPYD as ready",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:51:09.349624+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Green List (High Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:51:05.788664+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPYD were changed from to Dihydropyrimidine dehydrogenase deficiency, MIM# 274270",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:50:36.423555+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPYD were set to ",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:50:16.817614+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:49:50.400462+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DPYD.",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:49:41.090908+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 19296131, 10071185; Phenotypes: Dihydropyrimidine dehydrogenase deficiency, MIM# 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:45:03.734571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPYD as ready",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:45:03.725913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Green List (High Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:44:54.137745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPYD were changed from to 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:44:39.709178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPYD were set to ",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:44:25.490386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:43:20.001109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD8 as ready",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:43:19.987707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:40:10.053543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:39:55.219227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD8 were set to ",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:39:36.500884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:38:43.847872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NF1 as ready",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:38:43.834365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:38:35.922235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NF1 were changed from to Leukemia, juvenile myelomonocytic 607785; Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321; Watson syndrome 193520",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:38:16.010978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:37:27.156286+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECTA as ready",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:37:27.143090+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecta has been classified as Green List (High Evidence).",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:37:22.080118+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:36:58.998686+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TECTA were set to ",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:36:31.398137+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:36:00.890099+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:34:56.599086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECTA as ready",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:34:56.592690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Both recessive and dominant deafness associations assessed as DEFINITIVE by ClinGen.",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:34:56.545299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecta has been classified as Green List (High Evidence).",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:34:46.344531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:34:13.879554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TECTA were set to ",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:33:30.890022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TECTA was changed from to Other",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:32:49.508722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:31:23.807481+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC9 as ready",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:31:23.793722+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:31:18.849458+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC9 were changed from to Mental retardation, autosomal recessive 13, MIM# 613192",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:30:55.749585+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC9 were set to ",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:30:22.509301+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:27:18.748935+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763, 30853973; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:26:13.760473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:24:55.351709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC9 as ready",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:24:55.343165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:22:17.091545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC9 were changed from to Mental retardation, autosomal recessive 13, MIM# 613192",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:21:40.904135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC9 were set to ",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:21:16.975156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:20:55.052389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:18:35.610614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS1 as ready",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:18:35.604255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: The association with Noonan syndrome is well established; the association with gingival fibromatosis is questionable.",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:18:35.557486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Green List (High Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:18:27.725651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS1 were changed from to ?Fibromatosis, gingival, 1, 135300; Noonan syndrome 4, 610733",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:17:47.761355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS1 were set to ",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:17:31.666405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:17:17.626807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:16:01.327259+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F11 as ready",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:16:01.312919+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f11 has been classified as Green List (High Evidence).",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:15:58.338132+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:15:19.507265+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F11 were set to ",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:14:50.663717+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:14:18.277638+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: 18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive, MIM#612416; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:13:21.300332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F11 as ready",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:13:21.291883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f11 has been classified as Green List (High Evidence).",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:13:12.451509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:12:23.114237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F11 were set to ",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:12:01.305957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:10:16.082682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED13L as ready",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:10:16.078558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: The evidence for isolated CHD much less compelling than the association with a neurodevelopmental syndrome.",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:10:16.048462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med13l has been classified as Green List (High Evidence).",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:06:56.094146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED13L were changed from to Mental retardation and distinctive facial features with or without cardiac defects 616789; Transposition of the great arteries, dextro-looped 1 608808",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:06:47.092456+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: FMR1.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:05:49.339323+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: FMR1.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:05:39.228936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: FMR1.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:05:21.787453+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2524",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: FMR1.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T18:02:56.376521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: DMPK.",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:59:08.901647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED13L were set to ",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:58:54.358511+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED13L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:58:08.902158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROKR2 as ready",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:58:08.893631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prokr2 has been classified as Green List (High Evidence).",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:57:06.713172+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROKR2 as ready",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:57:06.699719+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prokr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:57:03.080111+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:56:33.170674+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:56:10.097724+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PROKR2 as Amber List (moderate evidence)",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:56:10.084239+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prokr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:55:46.201545+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: C9orf72.",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:55:39.921815+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:54:54.988864+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: C9orf72 as ready",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:54:54.975106+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c9orf72 has been classified as Green List (High Evidence).",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:54:43.647571+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C9orf72 as Green List (high evidence)",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:54:43.637100+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c9orf72 has been classified as Green List (High Evidence).",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:53:08.220661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: BEAN1.",
"entity_name": "BEAN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:51:28.744948+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:49:19.148022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCT5 as Amber List (moderate evidence)",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:49:19.132902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cct5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2020-04-17T17:48:50.742735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCT5",
"entity_type": "gene"
}
]
}