HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1619",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1617",
"results": [
{
"created": "2020-09-02T08:09:16.809981+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHCHD10 as ready",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:09:16.798753+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chchd10 has been classified as Green List (High Evidence).",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:09:13.053964+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHCHD10 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048; Myopathy, isolated mitochondrial, autosomal dominant 616209",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:08:49.434036+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHCHD10 were set to ",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:08:22.442048+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CHCHD10 was changed from to Other",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:07:56.603430+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:07:33.466253+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CHCHD10.",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:07:24.399374+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24934289, 25428574, 25193783, 32042922, 31690696, 30877432, 30874923, 31261376; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911, Spinal muscular atrophy, Jokela type 615048, Myopathy, isolated mitochondrial, autosomal dominant 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:06:02.917214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHCHD10 as ready",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:06:02.907587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chchd10 has been classified as Green List (High Evidence).",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:05:55.043199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CHCHD10.",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:05:41.598544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHCHD10 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048; Myopathy, isolated mitochondrial, autosomal dominant 616209",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:05:21.026818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHCHD10 were set to ",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:04:56.488330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CHCHD10 was changed from to Other",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:04:39.865173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:04:19.898126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24934289, 25428574, 25193783, 32042922, 31690696, 30877432, 30874923; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911, Spinal muscular atrophy, Jokela type 615048, Myopathy, isolated mitochondrial, autosomal dominant 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:51:52.703007+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADARB1 were changed from Intellectual disability; microcephaly; seizures to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Intellectual disability; microcephaly; seizures",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:51:17.242796+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADARB1 were set to 32220291",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:50:23.879418+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADARB1 as ready",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:50:23.869028+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adarb1 has been classified as Green List (High Evidence).",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:50:20.349817+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADARB1 were changed from Intellectual disability; microcephaly; seizures to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Intellectual disability; microcephaly; seizures",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:49:50.408345+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADARB1 were set to 32220291",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:49:00.089337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADARB1 were changed from Intellectual disability; microcephaly; seizures to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Intellectual disability; microcephaly; seizures",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:46:53.488053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADARB1 were set to 32220291",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:45:37.973369+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADARB1 as ready",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:45:37.963652+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adarb1 has been classified as Green List (High Evidence).",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:45:34.677306+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADARB1 were changed from Intellectual disability; microcephaly; seizures to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Intellectual disability; microcephaly; seizures",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:45:01.827237+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADARB1 were set to 32220291",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T03:26:12.043995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).; to: PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T03:16:03.462131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CTNND1: Rating: ; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T02:27:05.011428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T02:03:13.763044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RIPOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32631815; Phenotypes: Sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T01:49:03.446202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: NOTCH3 was added\ngene: NOTCH3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NOTCH3 were set to 31960911\nPhenotypes for gene: NOTCH3 were set to CADASIL\nReview for gene: NOTCH3 was set to AMBER\nAdded comment: PMID: 31960911 - Gravesteijn et al 2020 - describe a family with a unique cysteine-altering NOTCH3 variant in exon 9 in 5 individuals, which is predicted to cause natural exon 9 skipping. This mimics the therapeutic NOTCH3 cysteine correction approach and allows the effect of cysteine corrective exon skipping on NOTCH3 protein aggregation and disease severity in humans to be studied. In this family the CADASIL phenotype was mild. \r\n\r\nNote this gene is rated green on the Neurodegenerative disorders - adult onset panel in the Genomics England instance of PanelApp https://panelapp.genomicsengland.co.uk/panels/474/gene/NOTCH3/ \nSources: Literature",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T01:32:08.711425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: TET2",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-02T00:49:56.434921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: TRPM7: PMID: 31423533 - Cartwright et al 2020 - functional studies on four heterozygous nonsynonymous variants that were observed in TRPM7 in four individual cases of unexplained still birth which were screened for variants in 35 candidate genes in PMID: 29874177 (Munroe et al 2018). TRPM7 is a ubiquitously expressed ion channel known to regulate cardiac development and repolarization in mice. They found two variants in TRPM7, p.G179V and p.T860M, reduce ion channel current expression, which in the case of p.T860M is likely due to rapid degradation mediated by the proteasome. In addition, the p.R494Q TRPM7 variant significantly increases TRPM7 ion channel current, in a cell-type specific manner. They believe that TRPM7 may play a key role in ensuring correct cardiac development of the fetus.",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-09-02T00:30:18.593463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ZFYVE19 was added\ngene: ZFYVE19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE19 were set to 32737136\nPhenotypes for gene: ZFYVE19 were set to Cholestasis\nReview for gene: ZFYVE19 was set to GREEN\nAdded comment: PMID: 32737136 (2020) - Nine Han Chinese children from seven families with biallelic, predicted complete LoF variants in ZFYVE19. All patients had high-GGT intrahepatic cholestasis, portal hypertension, and histopathological features of the ductal plate malformation/congenital hepatic fibrosis.\r\n\r\nZFYVE19 depletion in cultured cells from one patient yielded centriolar and axonemal abnormalities, and immunostaining for two ciliary proteins DCDC2 and ACALT showed abnormal localisation in patient cholangiocytes, indicating this as a novel ciliopathy disorder. \nSources: Literature",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T00:26:39.534850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 31423533, 29874177; Phenotypes: still birth, cardiac development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-09-01T23:31:24.657772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-01T22:55:40.737321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291, 32719099; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-01T22:55:07.814362+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2917",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291, 32719099; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-01T22:54:55.152891+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.828",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291, 32719099; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-01T22:54:34.702784+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.266",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291, 32719099; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:27:10.489693+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC8 as ready",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:27:10.473920+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Green List (High Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:27:05.349885+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC8 as Green List (high evidence)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:27:05.341766+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Green List (High Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:26:33.604904+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC8 was added\ngene: HDAC8 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: HDAC8 were set to 24403048\nPhenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, MIM#\t300882\nReview for gene: HDAC8 was set to GREEN\nAdded comment: Over 35 individuals reported, ~30% had microcephaly. \nSources: Expert list",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:21:30.279974+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: IARS.",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:21:08.436903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: IARS.",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:20:23.816795+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IARS as ready",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:20:23.806924+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Green List (High Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:20:11.731451+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: IARS.",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:20:04.164600+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IARS as Green List (high evidence)",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:20:04.155030+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Green List (High Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:19:21.004440+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS was added\ngene: IARS was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS were set to 27426735; 27891590\nPhenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#\t617093\nReview for gene: IARS was set to GREEN\nAdded comment: Microcephaly -3 to -5SD is part of the phenotype of this autosomal recessive multisystem disorder characterised by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present. At least 4 families reported. Note HGNC approved name is IARS1. \nSources: Expert list",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:15:08.581368+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1 as ready",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:15:08.570294+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:15:04.383873+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGF1 as Green List (high evidence)",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:15:04.375691+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:14:41.832955+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1 was added\ngene: IGF1 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGF1 were set to 15769976; 14684690; 8857020\nPhenotypes for gene: IGF1 were set to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM#\t608747\nReview for gene: IGF1 was set to GREEN\nAdded comment: Severe growth retardation including significant microcephaly. \nSources: Expert list",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:11:12.227571+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1R as ready",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:11:12.217374+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1r has been classified as Green List (High Evidence).",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:11:07.951232+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGF1R as Green List (high evidence)",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:11:07.942738+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1r has been classified as Green List (High Evidence).",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:10:26.186969+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1R was added\ngene: IGF1R was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: IGF1R were set to 14657428; 25040157; 23045302; 26252249; 15928254\nPhenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, MIM#\t270450\nReview for gene: IGF1R was set to GREEN\nAdded comment: Severe IUGR including significant microcephaly, both mono-allelic and bi-allelic variants reported. \nSources: Expert list",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:54:25.506536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A3 as ready",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:54:25.497928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:54:17.929450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, MIM#612379; Kahrizi syndrome, MIM# 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:54:05.368021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A3 were set to ",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:53:45.429835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:53:27.913434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:53:20.942071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRD5A3: Added comment: Over 25 families reported, well established gene-disease association for CDG. Allelic disorder Kahrizi syndrome has overlapping features, may not be distinct entity.; Changed publications: 32424323; Changed phenotypes: Congenital disorder of glycosylation, type Iq, MIM#612379, Kahrizi syndrome, MIM# 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:52:05.594715+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A3 as ready",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:52:05.583104+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:51:45.798736+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, MIM# 612379; Kahrizi syndrome, MIM# 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:51:23.091442+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A3 were set to ",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:50:57.216298+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:50:34.103080+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424323; Phenotypes: Congenital disorder of glycosylation, type Iq, MIM# 612379, Kahrizi syndrome, MIM# 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:45:30.567207+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF14 as ready",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:45:30.555624+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Green List (High Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:45:26.433333+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from to Microcephaly 20, primary, autosomal recessive, MIM# 617914; Meckel syndrome 12, MIM# 616258",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:45:02.062359+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF14 were set to ",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:44:37.944970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:44:06.308292+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892560, 29343805; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM# 617914, Meckel syndrome 12, MIM# 616258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:42:12.937968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF14 as ready",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:42:12.927992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Green List (High Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:42:06.543363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from to Microcephaly 20, primary, autosomal recessive, MIM# 617914; Meckel syndrome 12, MIM# 616258",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:41:49.643889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF14 were set to ",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:41:32.667718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:41:14.806322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892560, 29343805, 24128419; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM# 617914, Meckel syndrome 12, MIM# 616258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:39:16.643440+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF14 as ready",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:39:16.633062+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Green List (High Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:38:27.537292+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from to Microcephaly 20, primary, autosomal recessive, MIM# 617914",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:36:54.997668+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF14 were set to ",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:36:32.564312+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:36:08.195668+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892560, 29343805; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM# 617914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:40.980530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1BP as ready",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:40.968769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Green List (High Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:34.208323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome, MIM# 609460",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:16.938623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1BP were set to ",
"entity_name": "KIF1BP",
"entity_type": "gene"
}
]
}